Allelic heterogeneity

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

Freq.	Gene	Related Diseases
15	COL2A1	Stickler syndrome, type I Kniest dysplasia Achondrogenesis-hypochondrogenesis, type II Osteoarthrosis SMED Strudwick type SMD SED congenita Spondyloperipheral dysplasia Epiphyseal dysplasia, multiple, with myopia and deafness Vitreoretinopathy with phalangeal epiphyseal dysplasia Platyspondylic skeletal dysplasia, Torrance type Spondyloperipheral dysplasia Otospondylomegaepiphyseal dysplasia Avascular necrosis of the femoral head Osteoarthritis with mild chondrodysplasia
13	LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B	Emery-Dreifuss muscular dystrophy, AD Cardiomyopathy, dilated, 1A Lipodystrophy, familial partial Emery-Dreifuss muscular dystrophy, AR Charcot-Marie-Tooth disease, type 2B1 Muscular dystrophy, limb-girdle, type 1B Mandibuloacral dysplasia Hutchinson-Gilford progeria LDHCP syndrome Werner syndrome, atypical Myopathy, early-onset, and progeroid features Restrictive dermopathy, lethal Cardiomyopathy, dilated, with quadriceps myopathy
12	PTEN, MMAC1	Cowden disease Lhermitte-Duclos syndrome Prostate cancer Endometrial carcinoma Thyroid carcinoma, follicular Bannayan-Riley-Ruvalcaba syndrome Oligodendroglioma Meningioma VATER association with hydrocephalus Proteus syndrome Macrocephaly/autism syndrome Juvenile polyposis syndrome, infantile form
12	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
11	PAX6, AN2, MGDA	Peters anomaly Cataract, congenital, with late-onset corneal dystrophy Foveal hypoplasia, isolated Ectopia pupillae Keratitis Eye anomalies, multiplex Aniridia, type II Morning glory disc anomaly Optic nerve hypoplasia/aplasia Coloboma, ocular Coloboma of optic nerve
11	TP53, P53, LFS1	Colorectal cancer Li-Fraumeni syndrome Hepatocellular carcinoma Osteosarcoma Histiocytoma Thyroid carcinoma Nasopharyngeal carcinoma Pancreatic cancer Adrenal cortical carcinoma Multiple malignancy syndrome Breast cancer
11	FGFR3, ACH	Achondroplasia Hypochondroplasia Thanatophoric dysplasia, types I and II Crouzon syndrome with acanthosis nigricans Muenke syndrome Bladder cancer Colorectal cancer, somatic Cervical cancer, somatic LADD syndrome CATSHL syndrome Nevus, keratinocytic, nonepidermolytic
11	SLC4A1, AE1, EPB3	Ovalocytosis Spherocytosis Hemolytic anemia Malaria, resistance to Renal tubular acidosis, distal, AD Renal tubular acidosis, distal, AR Blood group, Diego Blood group, Waldner Blood group, Wright Blood group, Froese Blood group, Swann
10	COL1A1	Osteogenesis imperfecta, type I OI type II OI type III OI type IV Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type VII Osteoporosis Dissection of cervical arteries Caffey disease OI/EDS combined syndrome
8	MSH2, COCA1, FCC1, HNPCC1	Colorectal cancer, hereditary nonpolyposis, type 1 Ovarian cancer Muir-Torre syndrome Cafe-au-lait spots, multiple, with leukemia Glioblastoma, early-onset Lymphoma, T-cell Neurofibromatosis, type I, with leukemia Lynch cancer family syndrome II
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	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	KRAS2, RASK2, NS3	Lung cancer Bladder cancer Breast cancer, somatic Pancreatic carcinoma, somatic Stomach cancer Leukemia, acute myelogenous Noonan syndrome 3 Costello syndrome
8	APC, GS, FPC	Gardner syndrome Adenomatous polyposis coli Colorectal cancer Desmoid disease, hereditary Turcot syndrome Adenomatous polyposis coli, attenuated Gastric cancer Adenoma, periampullary
8	GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO	Pseudohypoparathyroidism, type Ia McCune-Albright syndrome Somatotrophinoma Pituitary ACTH secreting adenoma Osseous heteroplasia, progressive Acromegaly Pseudohypoparathyroidism, type Ib Prolonged bleeding time, brachydactyly and mental retardation
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
8	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
7	TP73L, TP63, 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	Obesity, severe Obesity, resistance to Diabetes mellitus, insulin-resistant, with acanthosis nigricans and hypertension Glioblastoma, susceptibility to Insulin resistance, severe, digenic Lipodystrophy, familial partial Abdominal body fat distribution, modifier of
7	SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2	Long QT syndrome-3 Brugada syndrome Heart block, progressive, type IA Heart block, nonprogressive Ventricular fibrillation, idiopathic Sick sinus syndrome Cardiomyopathy, dilated, 1E
7	ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43	Infantile spasm syndrome Myoclonic epilepsy with mental retardation and spasticity Lissencephaly, X-linked with ambiguous genitalia Mental retardation, X-linked 36/43/54 Proud syndrome Partington syndrome Otahara syndrome
7	FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS	Heterotopia, periventricular Otopalatodigital syndrome, type I Otopalatodigital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular nodular, with frontometaphyseal dysplasia Heterotopia, periventricular, ED variant
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	RDS, RP7, PRPH2, PRPH, AVMD, AOFMD	Retinitis pigmentosa-7 Retinitis punctata albescens Butterfly dystrophy, retinal Macular dystrophy, vitelliform Foveomacular dystrophy, adult-onset, with choroidal neovascularization Macular dystrophy Retinitis pigmentosa, digenic
7	NF1, VRNF, WSS, NFNS	Neurofibromatosis, type 1 Watson syndrome Leukemia, juvenile myelomonocytic Melanoma, desmoplastic neurotropic Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Pseudarthrosis, tibial, in NF1
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	HBB	Sickle cell anemia Thalassemias, beta- Erythremias, beta- Methemoglobinemias, beta- Heinz body anemias, beta- HPFH, deletion type Thalassemia-beta, dominant inclusion-body
7	GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID	Deafness, autosomal recessive 1 Deafness, autosomal dominant 3 Vohwinkel syndrome Keratoderma, palmoplantar, with deafness Keratitis-ichthyosis-deafness syndrome Hystrix-like ichthyosis with deafness Bart-Pumphrey syndrome
6	TREX1, AGS1, AGS5, CRV, HERNS	Aicardi-Goutieres syndrome 1 Aicardi-Goutieres syndrome 5 Cree encephalitis Chilblain lupus Vasculopathy, retinal, with cerebral leukodystrophy Systemic lupus erythematosus, susceptibility to
6	SCN4A, HYPP, NAC1A	Hyperkalemic periodic paralysis Paramyotonia congenita Myotonia congenita, atypical, acetazolamide-responsive Cramps, familial, potassium-aggravated Hypokalemic periodic paralysis Myasthenic syndrome
6	BCL10	Lymphoma, MALT Lymphoma, follicular Mesothelioma Germ cell tumor Sezary syndrome Colon cancer
6	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	Muscular dystrophy, limb-girdle, type IC Rippling muscle disease Creatine phosphokinase, elevated serum Creatine phosphokinase, elevated serum Myopathy, distal, with decreased caveolin 3 Cardiomyopathy, familial hypertrophic
6	BRCA2, FANCD1	Breast cancer 2, early onset Fanconi anemia, complementation group D1 Prostate cancer Pancreatic cancer Breast cancer, male, susceptibility to Wilms tumor
6	AR, DHTR, TFM, SBMA, KD, SMAX1	Androgen insensitivity Spinal and bulbar muscular atrophy of Kennedy Prostate cancer Breast cancer, male, with Reifenstein syndrome Prostate cancer, susceptibility to Hypospadias, perineal
6	RPGR, RP3, CRD, RP15, COD1	Retinitis pigmentosa-3 Cone-rod dystrophy Cone dystrophy-1 Retinitis pigmentosa, X-linked, with recurrent respiratory infections Macular degeneration, X-linked atrophic Retinitis pigmentosa, X-linked with deafness and sinorespiratory infections
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	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	CDH1, UVO, LCAM, ECAD	Endometrial carcinoma Ovarian carcinoma Breast cancer, lobular Gastric cancer, familial diffuse Listeria monocytogenes, susceptibility to Cleft lip with or without cleft palate, with gastric cancer, familial diffuse
6	TGFBR2, HNPCC6, AAT3, MFS2	Colon cancer Colorectal cancer, hereditary nonpolyposis, type 6 Esophageal cancer Loeys-Dietz syndrome Aortic aneurysm, familial thoracic 3 Marfan syndrome, type II
6	SCN1A, GEFSP2, SMEI, FEB3	Epilepsy, generalized, with febrile seizures plus, type 2 Epilepsy, severe myoclonic, of infancy Migraine, familial hemiplegic, 3 Epilepsy, intractable childhood, with generalized tonic-clonic seizures Febrile convulsions, familial, 3 Antiepileptic drugs, response to
6	HTR2A	Schizophrenia, susceptibility to Obsessive-compulsive disorder, susceptibility to Seasonal affective disorder, susceptibility to Alcohol dependence, susceptibility to Anorexia nervosa, susceptibility to Major depressive disorder, response to citalopram therapy in
6	PIK3CA	Ovarian cancer, somatic Breast cancer, somatic Colorectal cancer, somatic Gastric cancer, somatic Hepatocellular carcinoma, somatic Nonsmall cell lung cancer, somatic
6	CCND1, PRAD1, BCL1	Parathyroid adenomatosis 1 Centrocytic lymphoma Multiple myeloma von Hippel-Lindau disease, modification of Colorectal cancer, susceptibility to Leukemia/lymphoma, chronic B-cell
6	KIT, PBT	Piebaldism Mast cell leukemia Mastocytosis with associated hematologic disorder Germ cell tumors Gastrointestinal stromal tumor, somatic Leukemia, acute myeloid
6	RET, MEN2A	Multiple endocrine neoplasia IIA Medullary thyroid carcinoma Multiple endocrine neoplasia IIB Hirschsprung disease Central hypoventilation syndrome, congenital Pheochromocytoma
6	NOS3	Coronary spasms, susceptibility to Alzheimer disease, late-onset, susceptibility to Hypertension, susceptibility to Hypertension, pregnancy-induced Placental abruption Ischemic stroke, susceptibility to
6	MYH9, MHA, FTNS, DFNA17	May-Hegglin anomaly Fechtner syndrome Sebastian syndrome Deafness, autosomal dominant 17 Epstein syndrome Macrothrombocytopenia and progressive sensorineural deafness
6	MAPT, MTBT1, DDPAC, MSTD	Dementia, frontotemporal, with or without parkinsonism Pick disease Supranuclear palsy, progressive Supranuclear palsy, progressive atypical Parkinson disease Tauopathy and respiratory failure
6	MC1R	UV-induced skin damage, susceptibility to Red hair/fair skin Analgesia from kappa-opioid receptor agonist, female-specific Oculocutaneous albinism, type II, modifier of Melanoma, susceptiblity to Blond/light brown hair and/or fair skin
6	JAK2	Polycythemia vera Thrombocythemia, essential Myelofibrosis, idiopathic Budd-Chiari syndrome Leukemia, acute myelogenous Myeloproliferative disorder with erythrocytosis
6	IFNG, IFG, IFI	Interferon, immune, deficiency TSC2 angiomyolipomas, renal, modifier of Tuberculosis, susceptibility to Aplastic anemia AIDS, rapid progression to Hepatitis C virus, resistance to
6	HOXD13, HOX4I, SPD, BDSD	Synpolydactyly, type II Brachydactyly, type E Brachydactyly, type D Synpolydactyly with foot anomalies Syndactyly, type V Brachydactyly-syndactyly syndrome
6	KRT1	Epidermolytic hyperkeratosis Cyclic ichthyosis with epidermolytic hyperkeratosis Keratosis palmoplantaria striata Ichthyosis histrix, Curth-Macklin type Unna-Thost disease, nonepidermolytic Keratosis palmoplantaris striata III
6	GH1, GHN	Growth hormone deficiency Growth hormone deficiency, isolated, type IA Growth hormone deficiency, isolated, type IB Growth hormone deficiency, isolated, type II Kowarski syndrome Short stature, familial
6	FBN1, MFS1, WMS	Marfan syndrome Shprintzen-Goldberg syndrome Ectopia lentis, familial MASS syndrome Weill-Marchesani syndrome, dominant Aortic aneurysm, ascending, and dissection
6	ESR1, ESR	Breast cancer Estrogen resistance HDL response to hormone replacement, augmented Migraine, susceptibility to Atherosclerosis, susceptibility to Myocardial infarction, susceptibility to
6	ACE, DCP1, ACE1	Myocardial infarction, susceptibility to Alzheimer disease, susceptibility to Diabetic nephropathy, susceptibility to 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	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, ATFB1, SQT2	Long QT syndrome-1 Jervell and Lange-Nielsen syndrome Atrial fibrillation, familial Torsades de pointes, drug-associated Short QT syndrome-2
5	WT1	Wilms tumor, type 1 Denys-Drash syndrome Mesangial sclerosis, isolated diffuse WAGR syndrome Frasier syndrome
5	SLC26A2, DTD, DTDST, D5S1708, EDM4	Diastrophic dysplasia Atelosteogenesis II Achondrogenesis Ib Epiphyseal dysplasia, multiple, 4 Diastrophic dysplasia, broad bone-platyspondylic variant
5	GBA	Gaucher disease, type I Gaucher disease, type II Gaucher disease, type III Gaucher disease, type IIIC Gaucher disease, perinatal lethal
5	CHEK2, RAD53, CHK2, CDS1, LFS2	Li-Fraumeni syndrome Osteosarcoma, somatic Breast cancer, susceptibility to Prostate cancer, familial Breast and colorectal cancer, susceptibility to
5	FLNB, SCT, AOI, LRS1	Spondylocarpotarsal synostosis syndrome Larson syndrome Atelostogenesis, type I Atelosteogenesis, type III Boomerang dysplasia
5	TSHR	Hypothyroidism, congenital, nongoitrous, 1 275200 Thyroid adenoma, hyperfunctioning, somatic Hyperthyroidism, nonautoimmune Thyroid carcinoma with thyrotoxicosis Hyperthyroidism, familial gestational
5	SDHD, PGL1	Paragangliomas, familial nonchromaffin, 1, with or without deafness Pheochromocytoma Carcinoid tumors, intestinal Merkel cell carcinoma, somatic Paraganglioma and gastric stromal sarcoma
5	CFTR, ABCC7, CF, MRP7	Cystic fibrosis Congenital bilateral absence of vas deferens Sweat chloride elevation without CF Pancreatitis, idiopathic Hypertrypsinemia, neonatal
5	FOXC2, FKHL14, MFH1	Lymphedema-distichiasis syndrome Lymphedema, hereditary II Yellow nail syndrome Lymphedema and ptosis Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
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	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	FOXC1, FKHL7, FREAC3	Iridogoniodysgenesis Anterior segment mesenchymal dysgenesis Rieger anomaly Axenfeld anomaly Iris hypoplasia and glaucoma
5	HMGA2, HMGIC, BABL, LIPO, STQTL9	Lipoma Salivary adenoma Uterine leiomyoma Lipomatosis, multiple Stature quantitative trait locus 9
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	TNF, TNFA	Malaria, cerebral, susceptibility to Septic shock, susceptibility to Asthma, susceptibility to Dementia, vascular, susceptibility to Migraine without aura, susceptibility to
5	TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF	Cardiomyopathy, familial hypertrophic, 9 Cardiomyopathy, dilated, 1G Tibial muscular dystrophy, tardive Muscular dystrophy, limb-girdle, type 2J Myopathy, proximal, with early respiratory muscle involvement
5	PRKAR1A, TSE1, CNC1, CAR, PPNAD1	Carney complex, type 1 Myxoma, intracardiac Thyroid carcinoma, papillary Pigmented adrenocortical disease, primary, 1 Adrenocortical tumor, somatic
5	RLBP1	Retinitis pigmentosa, AR Fundus albipunctatus Retinitis punctata albescens Newfoundland rod-cone dystrophy Bothnia retinal dystrophy
5	PRNP, PRIP	Creutzfeldt-Jakob disease Gerstmann-Straussler disease Insomnia, fatal familial Prion disease with protracted course Huntington disease-like 1
5	CD36, CHDS7	Macrothrombocytopenia Platelet glycoprotein IV deficiency Malaria, cerebral, susceptibility to Malaria, cerebral, reduced risk of Coronary heart disease, susceptibility to, 7
5	GLI3, PAPA, PAPB, ACLS	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polydactyly, preaxial, type IV Polydactyly, postaxial, types A1 and B Acrocallosal syndrome
5	BRAF	Melanoma, melignant, somatic Colorectal cancer, somatic Adenocarcinoma of lung, somatic Nonsmall cell lung cancer, somatic Cardiofaciocutaneous syndrome
5	LHCGR	Precocious puberty, male Pseudohermaphroditism, male, with Leydig cell hypoplasia Hypogonadotropic hypogonadism Micropenis Leydig cell adenoma, with precocious puberty
5	IRF1, MAR	Macrocytic anemia, refractory, of 5q- syndrome Myelodysplastic syndrome, preleukemic Myelogenous leukemia, acute Gastric cancer Nonsmall cell lung cancer
5	HBA2	Thalassemia, alpha- Erythrocytosis Heinz body anemia Hemoglobin H disease Hypochromic microcytic anemia
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	Hemolytic-uremic syndrome Factor H and factor H-like 1 Membranoproliferative glomerulonephritis with CFH deficiency Macular degeneration, age-related, 4 Complement factor H deficiency
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	COL1A2	Osteogenesis imperfecta, 3 clinical forms, 166200, 166210 Ehlers-Danlos syndrome, type VIIB Osteoporosis, postmenopausal Marfan syndrome, atypical Ehlers-Danlos syndrome, cardiac valvular form
5	CTNNB1	Colorectal cancer Hepatoblastoma Pilomatricoma Ovarian carcinoma, endometrioid type 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
5	APOE, AD2	Hyperlipoproteinemia, type III Myocardial infarction susceptibility Sea-blue histiocyte disease Alzheimer disease-2 Macular degeneration, age-related
5	APOA1	ApoA-I and apoC-III deficiency, combined Hypertriglyceridemia, one form Hypoalphalipoproteinemia Corneal clouding, autosomal recessive Amyloidosis, 3 or more types
4	GLB1	GM1-gangliosidosis, type I GM1-gangliosidosis, type II GM1-gangliosidosis, type III Morquio syndrome B
4	OCA2, P, PED, D15S12, BOCA, EYCL3	Albinism, oculocutaneous, type II Albinism, brown oculocutaneous Eye color 3, blue/nonblue Hair color 3, fair/brown
4	CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10	Joubert syndrome 5 Senior-Loken syndrome 6 Leber congenital amaurosis, type X Meckel syndrome type 4
4	ERCC6, CKN2, COFS1, CSB, ARMD5	Cockayne syndrome, type B Cerebrooculofacioskeletal syndrome 1 De Sanctis-Cacchione syndrome Macular degeneration, age-related, susceptibility to 5
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	Albinism, oculocutaneous, type IA Waardenburg syndrome/albinism, digenic Albinism, oculocutaneous, type IB Skin pigmentation, variation in
4	TPO, TPX	Thyroid hormone organification defect IIA Goiter, congenital Hyperthyroidism, congenital Total iodide organification defect
4	NSD1, ARA267, STO	Sotos syndrome Leukemia, acute myeloid Weaver syndrome Beckwith-Wiedemann syndrome
4	GDAP1, CMT4A, CMT2K, CMT2G	Charcot-Marie-Tooth disease, type 4A Charcot-Marie-Tooth disease, type 2G Charcot-Marie-Tooth disease, type 2K Charcot-Marie-Tooth disease, mixed axonal and demyelinating type
4	PAX3, WS1, HUP2, CDHS	Waardenburg syndrome, type I Waardenburg syndrome, type III Rhabdomyosarcoma, alveolar Craniofacial-deafness-hand syndrome
4	FKRP, MDC1C, LGMD2I	Muscular dystrophy, congenital, 1C Muscular dystrophy, limb-girdle, type 2I Muscle-eye-brain disease Walker-Warburg syndrome
4	CTNS	Cystinosis, nephropathic Cystinosis, ocular nonnephropathic Cystinosis, late-onset juvenile or adolescent nephropathic Cystinosis, atypical nephropathic
4	TIRAP	Pneumococcal disease, invasive, protection against Bacteremia, protection against Malaria, protection against Tuberculosis, protection against
4	WFS1, WFRS, WFS, DFNA6	Wolfram syndrome Hearing loss, low-frequency sensorineural 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	LMBR1, ACHP, C7orf2, PPD2	Acheiropody Polydactyly, preaxial type II Triphalangeal thumb, type I Triphalangeal thumb-polysyndactyly syndrome
4	BCS1L, FLNMS, GRACILE, BJS, PTD	Mitochondrial complex III deficiency GRACILE syndrome Leigh syndrome Bjornstad syndrome
4	GJB3, CX31, DFNA2	Erythrokeratodermia variabilis Deafness, autosomal dominant 2 Deafness, autosomal recessive Deafness, autosomal dominant, with peripheral neuropathy
4	TLR4, ARMD10	Endotoxin hyporesponsiveness Macular degeneration, age-related, 10 Longevity, susceptibility to Colorectal cancer, susceptibility to
4	NOG, SYM1, SYNS1	Symphalangism, proximal Synostoses syndrome, multiple, 1 Tarsal-carpal coalition syndrome Stapes ankylosis syndrome without symphalangism
4	PITX3, CTPP4	Anterior segment mesenchymal dysgenesis Cataract, posterior polar, 4 Cataract, congenital Cataract, posterior polar, 4, syndromic
4	PRKN, PARK2, PDJ, LPRS2	Parkinson disease, juvenile, type 2 Adenocarcinoma of lung, somatic Adenocarcinoma, ovarian, somatic Leprosy, susceptibility to
4	SOX10, WS4, WS2E	Waardenburg-Shah syndrome Yemenite deaf-blind hypopigmentation syndrome PCWH Waardenburg syndrome, type IIE
4	STK11, PJS, LKB1	Peutz-Jeghers syndrome Melanoma, malignant sporadic Pancreatic cancer, sporadic Testicular tumor, sporadic
4	CASP8, MCH5, ALPS2B	Autoimmune lymphoproliferative syndrome, type IIB Hepatocellular carcinoma, somatic Breast cancer, protection against Lung cancer, protection against
4	PTCH1, NBCCS, BCNS, HPE7	Basal cell nevus syndrome Basal cell carcinoma, somatic Holoprosencephaly-7 Medulloblastoma, somatic
4	CASR, HHC1, PCAR1, FIH	Hypocalciuric hypercalcemia, type I Hyperparathyroidism, neonatal Hypocalcemia, autosomal dominant Hypocalcemia, autosomal dominant, with Bartter syndrome
4	CACNA1A, CACNL1A4, SCA6	Hemiplegic migraine, familial Episodic ataxia, type 2 Spinocerebellar ataxia-6 Cerebellar ataxia, pure
4	GHR	Laron dwarfism Short stature, idiopathic Short stature, autosomal dominant, with normal serum growth hormone binding protein Increased responsiveness to growth hormone
4	KCNJ11, BIR, PHHI, HHF2, TNDM3	Hyperinsulinemic hypoglycemia, familial, 2 Diabetes, permanent neonatal Diabetes mellitus, permanent neonatal, with neurologic features, 606176, Diabetes mellitus, type 2, susceptibility to} Diabetes mellitus, transient neonatal, 3
4	HADHA, MTPA	LCHAD deficiency Trifunctional protein deficiency, type 1 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	MSH6, GTBP, HNPCC5	Cancer susceptibility Endometrial carcinoma Colorectal cancer, hereditary nonpolyposis, type 5 Ovarian cancer, endometrial type
4	HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7	Ectodermal dysplasia, Margarita Island type Zlotogora-Ogur syndrome Cleft lip/palate ectodermal dysplasia syndrome Orofacial cleft 7
4	CLCN2, EGMA, ECA3, EGI3	Epilepsy with grand mal seizures on awakening Epilepsy, juvenile myoclonic Epilepsy, childhood absence Epilepsy, juvenile absence
4	SMN1, SMA1, SMA2, SMA3, SMA4	Spinal muscular atrophy-1 Spinal muscular atrophy-2 Spinal muscular atrophy-3 Spinal muscular atrophy-4
4	PRPS1, CMTX5	Gout, PRPS-related Phosphoribosylpyrophosphate synthetase superactivity Charcot-Marie-Tooth disease, X-linked recessive, 5 Arts syndrome
4	GATA1, GF1, ERYF1, NFE1	Dyserythropoietic anemia with thrombocytopenia Macrothrombocytopenia Leukemia, megakaryoblastic, with or without Down syndrome Leukemia, megakaryoblastic, of Down syndrome
4	TAZ, EFE2, BTHS, CMD3A, LVNCX	Endocardial fibroelastosis-2 Barth syndrome Cardiomyopathy, dilated, 3A Noncompaction of left ventricular myocardium, isolated
4	WAS, IMD2, THC	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	F5	Hemorrhagic diathesis due to factor V deficiency Thromboembolism susceptibility due to factor V Leiden Thrombophilia due to factor V Liverpool Budd-Chiari syndrome
4	UGT1A1, UGT1, GNT1	Crigler-Najjar syndrome, type I Gilbert syndrome Crigler-Najjar syndrome, type II Hyperbilirubinemia, familial transcient neonatal
4	TCF2, HNF2, MODY5, FJHN	Renal cysts and diabetes syndrome Diabetes mellitus, noninsulin-dependent Prostate cancer, susceptibility to Diabetes, type 2, protection against
4	TG, AITD3	Hypothyroidism, hereditary congenital Goiter, adolescent multinodular Goiter, nonendemic, simple Autoimmune thyroid disease, susceptibility to 3
4	RB1	Retinoblastoma Osteosarcoma Bladder cancer Pinealoma with bilateral retinoblastoma
4	TTR, PALB	Amyloid neuropathy, familial, several allelic types Dystransthyretinemic hyperthyroxinemia Amyloidosis, senile systemic Carpal tunnel syndrome, familial
4	POLG, POLG1, POLGA, PEO, SANDO, SCAE	Progressive external ophthalmoplegia with mitochondrial DNA deletions Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Alpers syndrome Spinocerebellar ataxia with epilepsy
4	PLG	Plasminogen Tochigi disease Thrombophilia, dysplasminogenemic Plasminogen deficiency, types I and II Conjunctivitis, ligneous
4	ENPP1, PDNP1, NPPS, M6S1, PCA1	Ossification of posterior longitudinal ligament of spine Diabetes mellitus, non-insulin-dependent, susceptibility to Obesity, susceptibility to Arterial calcification, generalized, of infancy
4	PTHR1, PTHR	Metaphyseal chondrodysplasia, Murk Jansen type Enchondromatosis, Ollier type Chondrodysplasia, Blomstrand type Eiken syndrome
4	ERBB2, NGL, NEU, HER2	Adenocarcinoma of lung, somatic Glioblastoma, somatic Gastric cancer, somatic Ovarian cancer, somatic,
4	AKT1	Breast cancer, somatic Colorectal cancer, somatic Ovarian cancer, somatic Schizophrenia, susceptibility to
4	MYH7, CMH1, MPD1, CMD1S	Cardiomyopathy, familial hypertrophic, 1 Cardiomyopathy, dilated, 1S Myopathy, myosin storage Myopathy, Laing distal
4	CCL2, SCYA2, MCP1, MCAF	HIV-1, resistance to Spina bifida, susceptiblity to Coronary artery disease, modifier of Mycobacterium tuberculosis, susceptibility to
4	MTR	Methylcobalamin deficiency, cblG type Neural tube defects, folate-sensitive, susceptibility to Down syndrome, susceptibility to Cleft lip/palate, susceptibility to
4	MBL2, MBL, MBP1	Mannose-binding protein deficiency Diabetes mellitus, gestational, susceptibility to Meningococcal disease, susceptibility to Chronic infections, due to MBL deficiency
4	KRT14	Epidermolysis bullosa simplex, Koebner, Dowling-Meara, and Weber-Cockayne types, 131900, 131760 Epidermolysis bullosa simplex, recessive Naegeli-Franceschetti-Jadassohn syndrome Dermatopathia pigmentosa reticularis
4	INSR, HHF5	Leprechaunism Rabson-Mendenhall syndrome Diabetes mellitus, insulin-resistant, with acanthosis nigricans Hyperinsulinemic hypoglycemia, familial, 5
4	MSX1, HOX7, HYD1, OFC5	Hypodontia, autosomal dominant Hypodontia with orofacial cleft Witkop syndrome Cleft lip/palate, nonsyndromic
4	HLA-DR1B	Pemphigoid, susceptibility to Sarcoidosis, susceptibility to Multiple sclerosis, susceptibility to Rheumatoid arthritis, susceptibility to
4	TCF1, HNF1A, MODY3	MODY, type III Diabetes mellitus, noninsulin-dependent, 2 Diabetes mellitus, insulin-dependent Hepatic adenoma
4	HBA1	Thalassemias, alpha- Methemoglobinemias, alpha- Erythremias, alpha- Heinz body anemias, alpha-
4	GABRG2, GEFSP3, CAE2, ECA2	Epilepsy, generalized, with febrile seizures plus, type 3 Epilepsy, childhood absence, 2 Febrile convulsions, familial, 8 Myoclonic epilepsy, severe, of infancy
4	FSHR, ODG1	Ovarian dysgenesis 1 Ovarian sex cord tumors Ovarian response to FSH stimulation Ovarian hyperstimulation syndrome
4	FGA	Dysfibrinogenemia, alpha type, causing bleeding diathesis Dysfibrinogenemia, alpha type, causing recurrent thrombosis Amyloidosis, hereditary renal Afibrinogenemia, congenital
4	EPHX1	Fetal hydantoin syndrome Diphenylhydantoin toxicity Hypercholanemia, familial Preeclampsia, susceptibility to
4	DRD4	Autonomic nervous system dysfunction Novelty seeking personality Attention deficit-hyperactivity disorder Parkinson disease, protection against
4	DSPP, DPP, DGI1, DFNA39, DTDP2	Dentinogenesis imperfecta, Shields type II Deafness, autosomal dominant 36, with dentinogenesis Dentinogenesis imperfecta, Shields type III Dentin dysplasia, type II
4	CYP11B2	Hypoaldosteronism, congenital, due to CMO II deficiency Hypoaldosteronism, congenital, due to CMO I deficiency Low renin hypertension, susceptibility to Aldosterone to renin ratio raised
4	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	Graves disease, susceptibility to 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	GJA1, CX43, ODDD, SDTY3, ODOD	Oculodentodigital dysplasia Syndactyly, type III Hypoplastic left heart syndrome Atrioventricular septal defect
4	CR1, C3BR	CR1 deficiency SLE susceptibility Blood group, Knops system Malaria, severe, resistance to
4	MLH1, COCA2, HNPCC2	Colorectal cancer, hereditary nonpolyposis, type 2 Turcot syndrome with glioblastoma Muir-Torre syndrome Cafe-au-lait spots with glioma or leukemia
4	COL11A2, STL3, DFNA13	Stickler syndrome, type III Otospondylomegaepiphyseal dysplasia Weissenbacher-Zweymuller syndrome Deafness, autosomal dominant 13
4	CETP, HDLCQ10	CETP deficiency Longevity, exceptional Hyperalphalipoproteinemia High density lipoprotein cholesterol level QTL 10
4	BRCA1, PSCP	Breast cancer-1 Ovarian cancer Breast-ovarian cancer Papillary serous carcinoma of the peritoneum
4	IFNGR1	Mycobacterial infection, atypical, familial disseminated BCG infection, generalized familial H. pylori infection, susceptibility to Tuberculosis, susceptibility to
4	PI, AAT, SERPINA1	Emphysema-cirrhosis Hemorrhagic diathesis due to \`antithrombin\' Pittsburgh Emphysema Pulmonary disease, chronic obstructive, susceptibility to
4	ACTA1, ASMA, NEM3, NEM1, CFTD1	Myopathy, nemaline, 3 Myopathy, actin, congenital, with excess of thin myofilaments Myopathy, actin, congenital, with cores Myopathy, congenital, with fiber-type disporportion 1
3	LPL, LIPD, HDLCQ11	Lipoprotein lipase deficiency Combined hyperlipidemia, familial High density lipoprotein cholesterol level QTL 11
3	DBH	Dopamine-beta-hydroxylase activity levels, plasma Parkinson disease, resistance to Dopamine beta-hydroxylase deficiency
3	PEX26	Adrenoleukodystrophy, neonatal Refsum disease, infantile form Zellweger syndrome
3	SOX9, CMD1, SRA1	Campomelic dysplasia with autosomal sex reversal Acampomelic campomelic dysplasia Campomelic dysplasia
3	BEST1, VMD2	Macular dystrophy, vitelliform type Maculopathy, bull's-eye Vitelliform macular dystrophy, adult-onset
3	LEMD3, MAN1	Osteopoikilosis Buschke-Ollendorff syndrome Melorheostosis with osteopoikilosis
3	POMT1	Walker-Warburg syndrome Muscular dystrophy, limb-girdle, type 2K Muscular dystrophy, congenital, plus mental retardation
3	NF2	Neurofibromatosis, type 2 Meningioma, NF2-related, somatic Schwannomatosis
3	IRF6, VWS, LPS, PIT, PPS, OFC6	van der Woude syndrome Popliteal pterygium syndrome Orofacial cleft 6
3	NPHP1, NPH1, SLSN1, JBTS4	Nephronophthisis, juvenile Senior-Loken syndrome-1 Joubert syndrome 4
3	MPO	Myeloperoxidase deficiency Alzheimer disease, susceptibility to Lung cancer, protection against, in smokers
3	HEXA, TSD	Tay-Sachs disease GM2-gangliosidosis, several forms Hex A pseudodeficiency
3	GP1BA	Bernard-Soulier syndrome, type A von Willebrand disease, platelet-type Nonarteritic anterior ischemic optic neuropathy, susceptibility to
3	ENAM, AIH2	Amelogenesis imperfecta 2, hypoplastic local Amelogenesis imperfecta, hypoplastic, and openbite malocclusion Hypoplastic enamel pitting, localized
3	CIAS1, FCU, FCAS, NALP3, PYPAF1	Cold-induced autoinflammatory syndrome, familial Muckle-Wells syndrome CINCA syndrome
3	ALS2, ALSJ, PLSJ, IAHSP	Amyotrophic lateral sclerosis, juvenile Primary lateral sclerosis, juvenile Spastic paralysis, infantile onset ascending
3	BSCL2, SPG17, HMN5	Lipodystrophy, congenital generalized, type 2 Silver spastic paraplegia syndrome Neuropathy, distal hereditary motor, type V
3	LDB3, ZASP, CYPHER, KIAA01613	Myopathy, myofibrillar, ZASP-related Cardiomyopathy, dilated Cardiomyopathy, dilated, with left ventricular noncompaction
3	FOXL2, BPES, BPES1, PFRK, POF3	Blepharophimosis, epicanthus inversus, and ptosis, type 1 Blepharophimosis, epicanthus inversus, and ptosis, type 2 Premature ovarian failure 3
3	CDH23, USH1D, USH1H	Usher syndrome, type 1D Deafness, autosomal recessive 12 Usher syndrome, type 1H
3	PCDH15, DFNB23, USH1H	Usher syndrome, type 1F Deafness, autosomal recessive 23 Usher syndrome, type 1H
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	MUTYH, MYH	Adenomas, multiple colorectal Gastric cancer, somatic Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
3	CD209, CDSIGN	Dengue fever, protection against HIV type 1, susceptibility to Mycobacterium tuberculosis, susceptibility to
3	FBLN5, ARMD3	Cutis laxa, autosomal recessive Cutis laxa, autosomal dominant Macular degeneration, age-related, 3
3	GJB6, CX30, DFNA3, HED, ED2	Deafness, autosomal dominant 3 Ectodermal dysplasia 2, hidrotic Deafness, nonsyndromic neurosensory, digenic
3	AIPL1, LCA4	Leber congenital amaurosis 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 VIII Pigmented paravenous chorioretinal atrophy
3	TTID, MYOT	Muscular dystrophy, limb-girdle, type 1A Myotilinopathy Myopathy, spheroid body
3	SEPT9, MSF, MSF1, NAPB	Leukemia, acute myeloid, therapy-related Ovarian carcinoma Amyotrophy, hereditary neuralgic
3	PMX2B, NBPHOX, PHOX2B	Central hypoventilation syndrome, congenital Hirschsprung disease, short-segment Neuroblastoma
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	Lymphoma, non-Hodgkin Breast cancer, invasive intraductal Colon adenocarcinoma
3	PLA2G6, IPLA2, INAD1	Infantile neuroaxonal dystrophy 1 Neurodegeneration with brain iron accumulation Karak syndrome
3	SCN9A, NENA, PN1	Erythermalgia, primary Insensitivity to pain, channelopathy-associated Paroxysmal extreme pain disorder
3	TLR5, TIL3, SLEB1	Legionaire disease, susceptibility to Systemic lupus erythematosus, resistance to Systemic lupus erythematosus, susceptibility to, 1
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	SLC22A1L, BWSCR1A, IMPT1	Breast cancer Rhabdomyosarcoma Lung cancer
3	TECTA, DFNA8, DFNA12, DFNB21	Deafness, autosomal dominant 8 Deafness, autosomal dominant 12 Deafness, autosomal recessive 21
3	CTSC, CPPI, PALS, PLS, HMS, JPD	Papillon-Lefevre syndrome Haim-Munk syndrome Periodontitis, juvenile
3	CRX, CORD2, CRD, LCA7	Cone-rod retinal dystrophy-2 Leber congenital amaurosis VII Retinitis pigmentosa, late-onset dominant
3	SNAI2, SLUG, WS2D	Waardenburg syndrome, type IID Melanoma metastasis, modification of Piebaldism
3	PEX1, ZWS1	Zellweger syndrome-1 Adrenoleukodystrophy, neonatal Refsum disease, infantile
3	MATN3, EDM5, HOA	Epiphyseal dysplasia, multiple, 5 Osteoarthritis, hand, susceptibility to Spondyloepimetaphyseal dysplasia
3	TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR	Conotruncal anomaly face syndrome DiGeorge syndrome Velocardiofacial syndrome
3	CACNB4, EJM, EA5	Epilepsy, juvenile myoclonic Epilepsy, generalized idiopathic Episodic ataxia, type 5
3	JAG1, AGS, AHD	Alagille syndrome Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon
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	MYOC, TIGR, GLC1A, JOAG, GPOA	Glaucoma 1A, primary open angle, juvenile-onset Glaucoma 1A, primary open angle, recessive Glaucoma, early-onset, digenic
3	PITX2, IDG2, RIEG1, RGS, IGDS2	Rieger syndrome Iridogoniodysgenesis syndrome-2 Ring dermoid of cornea
3	BMPR1A, ACVRLK3, ALK3	Polyposis, juvenile intestinal Polyposis syndrome, hereditary mixed, 2 Juvenile polyposis syndrome, infantile form
3	MADH4, DPC4, SMAD4, JIP	Pancreatic cancer Polyposis, juvenile intestinal Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
3	MYO6, DFNA22, DFNB37	Deafness, autosomal dominant 22 Deafness, autosomal recessive 37 Deafness, sensorineural, with hypertrophic cardiomyopathy
3	GDNF	Hirschsprung disease Central hypoventilation syndrome Pheochromocytoma, modifier of
3	LAMA3, LOCS	Epidermolysis bullosa, junctional, Herlitz type Epidermolysis bullosa, generalized atrophic benign Laryngoonychocutaneous syndrome
3	BMPR2, PPH1	Pulmonary hypertension, familial primary Pulmonary venoocclusive disease Pulmonary hypertension, primary, fenfluramine-associated
3	IPF1	Pancreatic agenesis MODY, type IV Diabetes mellitus, type II, susceptibility to
3	PTPN22, PEP, PTPN8, LYP	Diabetes mellitus, insulin-dependent, susceptibility to Rheumatoid arthritis, susceptibility to Systemic lupus erythematosus, susceptibility to
3	CPT2	Myopathy due to CPT II deficiency CPT deficiency, hepatic, type II CPT II deficiency, lethal neonatal
3	TITF1, NKX2A, TTF1	Goiter, familial, due to TTF-1 defect Chorea, hereditary benign Choreoathetosis, hypothyroidism, and neonatal respiratory distress
3	NKX2E, CSX	Atrial septal defect with atrioventricular conduction defects Tetrology of Fallot Atrioventricular block, idiopathic second-degree
3	GCNT2	Blood group, Ii Adult i phenotype with congenital cataract Adult i phenotype without cataract
3	PMS2, PMSL2, HNPCC4	Turcot syndrome with glioblastoma Colorectal cancer, hereditary nonpolyposis, type 4 Neuroectodermal tumors, supratentorial primitive, with cafe-au-lait spots
3	TBP, SCA17	Spinocerebellar ataxia 17 Parkinson disease Huntington disease-like-4
3	ABCA1, ABC1, HDLDT1, TGD	Tangier disease HDL deficiency, familial Coronary artery disease in familial hypercholesterolemia, protection against
3	MHC2TA, C2TA	Bare lymphocyte syndrome, type II, complementation group A Rheumatoid arthritis, susceptibility to Multiple sclerosis, susceptibility to
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	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	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, MRXS3, SHS, SFM1, MRXHF1	Alpha-thalassemia/mental retardation syndrome Alpha-thalassemia myelodysplasia syndrome, somatic Mental retardation-hypotonic facies syndrome, X-linked
3	ATP7A, MNK, MK, OHS	Menkes disease Occipital horn syndrome Cutis laxa, neonatal
3	MYO7A, USH1B, DFNB2, DFNA11	Usher syndrome, type 1B Deafness, autosomal recessive 2, neurosensory Deafness, autosomal dominant 11, neurosensory
3	IDUA, IDA	Mucopolysaccharidosis Ih Mucopolysaccharidosis Is Mucopolysaccharidosis Ih/s
3	KNG	Kininogen deficiency High-molecular-weight kininogen deficiency Fitzgerald factor deficiency
3	DHS	Dehydrated hereditary stomatocytosis Pseudohyperkalemia, familial Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema
3	UMOD, HNFJ, FJHN, MCKD2, ADMCKD2	Hyperuricemic nephropathy, familial juvenile Medullary cystic kidney disease 2 Glomerulocystic kidney disease with hyperuricemia and isosthenuria
3	TGM1, ICR2, LI1	Ichthyosis, lamellar, autosomal recessive Ichthyosiform erythroderma, congenital Self-healing collodion baby
3	TGFBR1, ALK5, AAT5	Loeys-Dietz syndrome Furlong syndrome Aortic aneurysm, familial thoracic 5
3	PDGFB, SIS	Meningioma, SIS-related Dermatofibrosarcoma protuberans Giant-cell fibroblastoma
3	HRAS	Bladder cancer, somatic Costello syndrome Thyroid carcinoma, follicular, somatic
3	TERT, TCS1, EST2	Aplastic anemia, susceptibility to Pulmonary fibrosis,idiopathic, susceptibility to Dyskeratosis congenita
3	SDHB, SDH1, SDHIP, PGL4	Paraganglioma, familial chromaffin, 4 Pheochromocytoma Paraganglioma and gastric stromal sarcoma
3	SPTB	Elliptocytosis-3 Spherocytosis-1 Anemia, neonatal hemolytic, fatal and near-fatal
3	SPTA1	Elliptocytosis-2 Pyropoikilocytosis Spherocytosis, recessive
3	ATP1A2, FHM2, MHP2	Migraine, familial hemiplegic, 2 Alternating hemiplegia of childhood Migraine, familial basilar
3	RHO, RP4, OPN2	Retinitis pigmentosa-4, autosomal dominant Retinitis pigmentosa, autosomal recessive Night blindness, congenital stationery, rhodopsin-related
3	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
3	F2	Hypoprothrombinemia Dysprothrombinemia Hyperprothrombinemia
3	PTPN11, PTP2C, SHP2, NS1	Noonan syndrome 1 Leopard syndrome Leukemia, juvenile myelomonocytic
3	POMC	ACTH deficiency Obesity, adrenal insufficiency, and red hair Abdominal body fat distribution, modifier of
3	PSAP, SAP1	Metachromatic leukodystrophy due to deficiency of SAP-1 Gaucher disease, atypical Combined SAP deficiency
3	INS	Diabetes mellitus, rare form MODY, one form Hyperproinsulinemia, familial
3	ALPL, HOPS, TNSALP	Hypophosphatasia, infantile Hypophosphatasia, childhood Odontohypophosphatasia
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	MET, AUTS9	Renal cell carcinoma, papillary, familial and sporadic Hepatocellular carcinoma, childhood type Autism, suseptibility to, 9
3	SNCA, NACP, PARK1, PARK4	Parkinson disease, familial Parkinson disease 4, autosomal dominant Lewy body Dementia, Lewy body
3	IL12B, NKSF2	BCG and salmonella infection, disseminated Asthma, susceptibility to Psoriasis, susceptibility to
3	NDUFV1, UQOR1	Leigh syndrome Alexander disease Mitochondrial complex I deficiency
3	RMRP, RMRPR, CHH	Cartilage-hair hypoplasia Metaphyseal dysplasia without hypotrichosis Anauxetic dysplasia
3	MITF, WS2A	Waardenburg syndrome, type IIA Waardenburg syndrome/ocular albinism, digenic Tietz syndrome
3	KCNH2, LQT2, HERG, SQT1	Long QT syndrome-2 Long QT syndrome, acquired, susceptibility to Short QT syndrome-1
3	PTPRC, CD45, LCA	Multiple sclerosis, susceptibility to Severe combined immunodeficiency due to PTPRC deficiency Hepatitic C virus, susceptibility to
3	RUNX1, CBFA2, AML1	Leukemia, acute myeloid Platelet disorder, familial, with associated myeloid malignancy Rheumatoid arthritis, susceptibility to
3	KRT10	Epidermolytic hyperkeratosis Nevus, epidermal, epidermolytic hyperkeratotic type Ichthyosis, cyclic, with epidermolytic hyperkeratosis
3	KRT16	Pachyonychia congenita, Jadassohn-Lewandowsky type Palmoplantar keratoderma, nonepidermolytic Palmoplantar verrucous nevus, unilateral
3	KRT5, DDD	Epidermolysis bullosa simplex, Koebner, Dowling-Meara, and Weber-Cockayne types, 131900, 131760 Epidermolysis bullosa simplex with mottled pigmentation Dowling-Degos disease
3	ITGB4	Epidermolysis bullosa, junctional, with pyloric atresia Epidermolysis bullosa, generalized atrophic benign Epidermolysis bullosa of hands and feet
3	FCGR3A, CD16, IGFR3	Lupus erythematosus, systemic, susceptibility Neutropenia, alloimmune neonatal Viral infections, recurrent
3	HLA-B, SPDA1	Spondyloarthropathy, susceptibility to, 1 Stevens-Johnson syndrome, carbamazepine-induced, susceptibility to Abacavir hypersensitivity, susceptibility to
3	HLA-A	Ankylosing spondylitis, susceptibility to, 1 Stevens-Johnson syndrome, susceptibility to Abacavir hypersensitivity, susceptibility to
3	RASA1, GAP, CMAVM, PKWS	Basal cell carcinoma, somatic Parkes Weber syndrome Capillary malformation-arteriovenous malformation
3	GLRA1, STHE	Startle disease/hyperekplexia, autosomal dominant Startle disease, autosomal recessive Hyperekplexia and spastic paraparesis
3	FH	Fumarase deficiency Multiple cutaneous and uterine leiomyomata Leiomyomatosis and renal cell cancer
3	FLT3	Leukemia, acute myeloid, reduced survival in Leukemia, acute myeloid Leukemia, acute lymphoblastic
3	FGFR1, FLT2, KAL2	Pfeiffer syndrome Jackson-Weiss syndrome Kallmann syndrome 2
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	EWSR1, EWS	Ewing sarcoma Neuroepithelioma Chondrosarcoma, extraskeletal myxoid
3	EGFR	Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in Adenocarcinoma of lung, response to tyrosine kinase inhibitor in Nonsmall cell lung cancer, susceptibility to
3	EDNRB, HSCR2, ABCDS	Hirschsprung disease-2 ABCD syndrome Waardenburg-Shah syndrome
3	EDN3	Shah-Waardenburg syndrome Central hypoventilation syndrome, congenital Hirschsprung disease
3	SELE, ELAM1	IgA nephropathy, susceptiblity to Atherosclerosis, susceptibility to Blood pressure regulation QTL
3	EGR2, KROX20	Neuropathy, congenital hypomyelinating, 1 Charcot-Marie-Tooth disease, type 1D Dejerine-Sottas neuropathy
3	DRD5, DRD1B, DRD1L2	Blepharospasm, primary benign Dystonia, primary cervical Attention deficit-hyperactivity disorder, susceptibility to
3	ERCC2, EM9, XPD, COFS2	Xeroderma pigmentosum, group D Trichothiodystrophy Cerebrooculofacioskeletal syndrome 2
3	IL10, CSIF	HIV-1, susceptibility to Graft-versus-host disease, protection against Rheumatoid arthritis, progression of
3	CYP2D@, CYP2D, P450C2D	Parkinsonism, susceptibility to Debrisoquine sensitivity Codeine sensitivity
3	CYP2C, CYP2C19	Mephenytoin poor metabolizer Opremazole poor metabolizer Proguanil poor metabolizer
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	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	COL6A1, OPLL	Bethlem myopathy Ullrich congenital muscular dystrophy Ossification of the posterior longitudinal spinal ligaments
3	COL3A1	Ehlers-Danlos syndrome, type IV Ehlers-Danlos syndrome, type III Aneurysm, familial arterial
3	CLCN1	Myotonia congenita, recessive Myotonia congenita, dominant Myotonia levior, recessive
3	CP	Hypoceruloplasminemia, hereditary Cerebellar ataxia Hemosiderosis, systemic, due to aceruloplasminemia
3	CACNA1S, CACNL1A3, CCHL1A3	Hypokalemic periodic paralysis Malignant hyperthermia susceptibility 5 Thyrotoxic periodic paralysis, susceptibility to
3	ADRB2	Asthma, nocturnal, susceptibility to Obesity, susceptibility to Beta-2-adrenoreceptor agonist, reduced response to
3	CYP19A1, CYP19, ARO	Aromatase deficiency Aromatase excess syndrome Pseudohermaphroditism, female, due to placental aromatase deficiency
3	APOB, FLDB	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	Amyloidosis, cerebroarterial, Dutch type Alzheimer disease-1, APP-related Amyloidosis, cerebroarterial, Iowa type
3	NAGA	Schindler disease, type I Kanzaki disease Schindler disease, type III
3	ALB	Analbuminemia Dysalbuminemic hyperthyroxinemia Dysalbuminemic hyperzincemia
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
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	RAXL1, QRX, CORD11, ARMD6	Macular degeneration, age-related, 6 Cone-rod dystrophy 11
2	PALB2, FANCN	Fanconi anemia, complementation group N Breast cancer, susceptibility to
2	SLC4A11, BTR1, NABC1, CHED2, CDPD	Corneal endothelial dystrophy 2 Corneal endothelial dystrophy and perceptive deafness
2	VANGL1, STBM2	Caudal regression syndrome Neural tube defects
2	TMEM67, MKS3, JBTS6	Meckel syndrome, type 3 Joubert syndrome 6
2	HMBS, PBGD, UPS	Porphyria, acute intermittent Porphyria, acute intermittent, nonerythroid variant
2	HPD	Tyrosinemia, type III Hawkinsinuria
2	CHMP2B, DMT1, VPS2B	Dementia, familial, nonspecific Amyotrophic lateral sclerosis, CHMP2B-related
2	ESCO2	Roberts syndrome SC phocomelia syndrome
2	CYP17A1, CYP17, P450C17	17-alpha-hydroxylase/17,20-lyase deficiency 17,20-lyase deficiency, isolated
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	CHD7, IS3	CHARGE syndrome Scoliosis, idiopathic 3
2	ARL6, BBS3	Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 1, modifier of
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	USH2A, RP39	Usher syndrome, type 2A Retinitis pigmentosa-39
2	NEU1, NEU, SIAL1	Sialidosis, type I Sialidosis, type II
2	EXT1	Exostoses, multiple, type 1 Chondrosarcoma
2	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	GNPTAB, GNPTA	Mucolipidosis IIIA Mucolipidosis II
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	ITGA2B, GP2B, CD41B	Glanzmann thrombasthenia, type A Thrombocytopenia, neonatal alloimmune
2	SARA2, SAR1B, CMRD	Anderson disease Chylomicron retention disease
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	MGR6, FHM3	Migraine, familial hemiplegic Migraine with or without aura, susceptibility to
2	DYM, FLJ90130, DMC, SMC	Dyggve-Melchior-Clausen disease Smith-McCort dysplasia
2	FKTN, FCMD	Muscular dystrophy, Fukuyama congenital Walker-Warburg syndrome
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	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	LCAT	Norum disease Fish-eye disease
2	IRAK4, REN64, IPD1	IRAK4 deficiency Invasive pneumococcal disease, recurrent isolated, 1
2	HEXB	Sandhoff disease, infantile, juvenile, and adult forms Spinal muscular atrophy, juvenile
2	FXN, FRDA, FARR, X25	Friedreich ataxia Friedreich ataxia with retained reflexes
2	PRODH, PRODH2, SCZD4	Hyperprolinemia, type I Schizophrenia, susceptibility to, 4 600850
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	OPA3, MGA3	3-methylglutaconic aciduria, type III Optic atrophy and cataract
2	ZMPSTE24, FACE1, STE24, MADB	Mandibuloacral dysplasia with type B lipodystrophy Restrictive dermopathy, lethal
2	HAMP, LEAP1, HEPC, HFE2	Hemochromatosis, juvenile Hemochromatosis, juvenile, digenic
2	EIF2B2	Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy
2	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	SHANK3, PSAP2, PROSAP2, KIAA1650	Chromosome 22q13.3 deletion syndrome Autism, chromosome 22q13.3 deletion syndrome-related
2	SLC45A2, MATP, AIM1	Oculocutaneous albinism, type IV Skin pigmentation, variation in
2	PANK2, NBIA1, PKAN, HARP	Neurodegeneration, pantothenate kinase-associated HARP syndrome
2	C10orf2, TWINKLE, PEO1, PEOA3, SANDO	Progressive external ophthalmoplegia with mitochondrial DNA deletions Sensory ataxia neuropathy, dysarthria, and ophthalmoparesis
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	SOST, VBCH	Sclerosteosis Van Buchem disease
2	VAPB, VAPC, ALS8	Amyotrophic lateral sclerosis 8 Spinal muscular atrophy, late-onset, Finkel type
2	SLC26A4, PDS, DFNB4	Pendred syndrome Enlarged vestibular aqueduct
2	RETN, RSTN, FIZZ3	Diabetes mellitus, noninsulin-dependent, susceptibility to Hypertension, insulin resistance-related, susceptibility to
2	ELOVL4, ADMD, STGD2, STGD3	Stargardt disease 3 Macular dystrophy, autosomal dominant, chromosome 6-linked
2	TMPRSS3, ECHOS1, DFNB8, DFNB10	Deafness, autosomal recessive 8, childhood onset Deafness, autosomal recessive 10, congenital
2	CRTAP, CASP	Osteogenesis imperfecta, type IIB Osteogenesis imperfecta, type VII
2	RPGRIP1, LCA6, CORD9	Leber congenital amaurosis VI Cone-rod dystrophy 9
2	IL21R	Lymphoma, diffuse large B-cell IgE, elevated level of
2	USH1C, DFNB18	Usher syndrome, type 1C Deafness, autosomal recessive 18
2	DISC1, SCZD9	Schizophrenia, susceptibility to Schizoaffective disorder, susceptibility to
2	ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD	Craniometaphyseal dysplasia Chondrocalcinosis 2
2	AASS	Hyperlysinemia Saccharopinuria
2	CNGB3, ACHM3	Achromatopsia-3 Macular degeneration, juvenile
2	SPINK5, LEKTI	Netherton syndrome Atopy
2	TBCE, KCS, KCS1, HRD	Kenny-Caffey syndrome-1 Hypoparathyroidism-retardation-dysmorphism syndrome
2	TNFRSF13B, TACI, CVID	Immunoglobulin A deficiency Common variable immunodeficiency
2	MKKS, HMCS, KMS, MKS, BBS6	McKusick-Kaufman syndrome Bardet-Biedl syndrome 6
2	TBX21, TBET	Asthma, aspirin-induced, susceptibility to Asthma and nasal polyps
2	EVC	Ellis-van Creveld syndrome Weyers acrodental dysostosis
2	KL	Coronary artery disease, susceptibility to Tumoral calcinosis, hyperphosphatemic
2	LGI1, EPT, ETL1	Epilepsy, partial, with auditory features Glioblastoma, somatic
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	TCAP, LGMD2G, CMD1N	Muscular dystrophy, limb-girdle, type 2G Cardiomyopathy, dilated, 1N
2	NR2E3, PNR, ESCS	Enhanced S-cone syndrome Retinitis pigmentosa-37
2	SP110, IFI41, IFI75, VODI	Hepatic venoocclusive disease with immunodeficiency Mycobacterium tuberculosis, susceptibility to
2	FACL6, ACS2	Myelodysplastic syndrome Myelogenous leukemia, acute
2	MLH3, HNPCC7	Colorectal cancer, somatic Colon cancer, hereditary nonpolypopsis, type 7
2	TRPS1	Trichorhinophalangeal syndrome, type I Trichorhinophalangeal syndrome, type III
2	DNAI1, CILD1, ICS, PCD	Ciliary dyskinesia, primary, 1 Kartagener syndrome
2	SLC17A5, SIASD, SLD	Salla disease Sialic acid storage disorder, infantile
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	SLC22A4, OCTN1	Rheumatoid arthritis, susceptibility to Crohn disease, susceptibility to
2	SLC7A9, CSNU3	Cystinuria, type III Cystinuria, type II
2	EDAR, DL, ED3, EDA3	Ectodermal dysplasia, hypohidrotic, autosomal dominant Ectodermal dysplasia, hypohidrotic, autosomal recessive
2	DLEC1, DLC1	Lung cancer Esophageal cancer
2	AXIN2	Colorectal cancer Oligodontia-colorectal cancer syndrome
2	EIF2B5, LVWM, CACH, CLE	Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy
2	RP1, ORP1	Retinitis pigmentosa-1 Hypertriglyceridemia, susceptibility to
2	GPH, KIAA1385, GEPH	Molybdenum cofactor deficiency, type C Hyperekplexia
2	HABP2, PHBP, HGFAL, FSAP	Carotid stenosis, susceptibility to Venous thromboembolism, susceptibility to
2	ITM2B, BRI, ABRI, FBD	Dementia, familial British Dementia, familial Danish
2	SLC25A13, CTLN2	Citrullinemia, adult-onset type II Citrullinemia, type II, neonatal-onset
2	AXIN1, AXIN	Hepatocellular carcinoma, somatic Caudal duplication anomaly
2	KCNE2, MIRP1, LQT6	Long QT syndrome-6 Atrial fibrillation, familial
2	ALOX5AP, FLAP	Myocardial infarction, susceptibility to Stroke, susceptibility to
2	ZFPM2, FOG2, DIH3	Tetralogy of Fallot Diaphragmatic hernia 3
2	PTCH2	Medulloblastoma Basal cell carcinoma, somatic
2	COX15	Cardiomyopathy, hypertrophic, early-onset fatal Leigh syndrome due to cytochrome c oxidase deficiency
2	LARGE, KIAA0609, MDC1D	Muscular dystrophy, congenital, type 1D Walker-Warburg syndrome
2	EYA4, DFNA10, CMD1J	Deafness, autosomal dominant 10 Cardiomyopathy, dilated, 1J
2	TNFRSF11A, RANK, ODFR, OFE	Osteolysis, familial expansile Paget disease of bone
2	WISP3, PPAC, PPD	Arthropathy, progressive pseudorheumatoid, of childhood Spondyloepiphyseal dysplasia tarda with progressive arthropathy
2	DNAH11, DNAHC11	Situs inversus viscerum Kartagener syndrome
2	DNAH5, HL1, PCD, CILD3	Ciliary dyskinesia, primary, 3 608644 Kartagener syndrome
2	ABCC6, ARA, ABC34, MLP1, PXE	Pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste
2	BFSP2, CP49, CP47	Cataract, juvenile-onset Cataract, congenital
2	COCH, DFNA9	Deafness, autosomal dominant 9 Meniere disease 156000
2	B3GALT3, GLCT3, P	Blood group, P system Urinary tract infection, susceptibility to
2	TLR2, TIL4	Leprosy, susceptibility to Colorectal cancer, susceptibility to
2	CALM, CLTH	Leukemia, acute myeloid Leukemia, acute T-cell lymphoblastic
2	PEX10, NALD	Zellweger syndrome Adrenoleukodystrophy, neonatal
2	MASS1, VLGR1, KIAA0686, FEB4, USH2C	Convulsions, familial febrile, 4 Usher syndrome, type IIC
2	PRKAG2, WPWS, CMH6	Wolff-Parkinson-White syndrome Cardiomyopathy, hypertrophic 6, with WPW
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	G6PT1	Glycogen storage disease Ib Glycogen storage disease Ic
2	NBS1, NBS	Nijmegen breakage syndrome Leukemia, acute lymphoblastic
2	TGIF, HPE4	Holoprosencephaly-4 Hypotrichosis simplex, contiguous gene syndrome with
2	LMX1B, NPS1	Nail-patella syndrome Nail-patella syndrome with open-angle glaucoma
2	MTRR	Homocystinuria-megaloblastic anemia, cbl E type Neural tube defects, folate-sensitive, susceptibility to
2	DJ1, PARK7	Parkinson disease 7, autosomal recessive early-onset Amyotrophic lateral sclerosis-Parkinsonism/dementia complex 2
2	HSF4, CTM	Cataract, Marner type Cataract, lamellar
2	OPTN, GLC1E, FIP2, HYPL, NRP	Glaucoma 1, open angle, E Glaucoma, normal tension, susceptibility to
2	SDHC, PGL3	Paragangliomas, familial nonchromaffin, 3 Paraganglioma and gastric stromal sarcoma
2	AF10	Leukemia, acute myeloid Leukemia, acute T-cell lymphoblastic
2	ATP8B1, FIC1, BRIC, PFIC1	Cholestasis, progressive familial intrahepatic 1 Cholestasis, benign recurrent intrahepatic
2	DNM2, CMTDIB, CMTDI1	Charcot-Marie-Tooth disease, dominant intermediate B Myopathy, centronuclear
2	ROR2, BDB1, BDB, NTRKR2	Brachydactyly, type B1 Robinow syndrome, autosomal recessive
2	TERC, TRC3, TR	Dyskeratosis congenita, autosomal dominant Aplastic anemia
2	AGRP, ART, AGRT	Obesity, late-onset Leanness, inherited
2	HR, AU	Alopecia universalis Atrichia with papular lesions
2	TRIM32, HT2A, LGMD2H, BBS11	Muscular dystrophy, limb-girdle, type 2H Bardet-Biedl syndrome 11
2	CD151, PETA3, SFA1, MER2	Nephropathy with pretibial epidermolysis bullosa and deafness Blood group, Raph
2	KCNQ2, EBN1	Epilepsy, benign, neonatal, type 1 Myokymia with neonatal epilepsy
2	SALL1, HSAL1, TBS	Townes-Brocks syndrome Townes-Brocks branchiootorenal-like syndrome
2	HSPB1, HSP27, CMT2F, HMN2B	Neuropathy, distal hereditary motor, type IIB Charcot-Marie-Tooth disease, axonal, type 2F
2	HTRA1, PRSS11, ARMD7	Macular degeneration, age-related, 7 Macular degeneration, age-related, neovascular type
2	FGF10	Aplasia of lacrimal and salivary glands LADD syndrome
2	KLF6, COPEB, BCD1, ZF9	Prostate cancer, somatic Gastric cancer, somatic
2	CLCNKB	Bartter syndrome, type 3 Bartter syndrome, type 4, digenic
2	DMBT1	Glioblastoma multiforme, somatic Medulloblastoma
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	MCM6	Hypolactasia, adult type Tall stature, susceptibility to
2	HESX1, RPX	Septooptic dysplasia Pituitary hormone deficiency, combined, HESX1-related
2	PEX13, ZWS, NALD	Zellweger syndrome Adrenoleukodystrophy, neonatal
2	VDR	Rickets, vitamin D-resistant, type IIA Osteoporosis, involutional
2	PEX7, RCDP1	Rhizomelic chondrodysplasia punctata, type 1 Refsum disease
2	GALNT3, HHS, HFTC	Tumoral calcinosis, hyperphosphatemic, familial Hyperostosis-hyperphosphatemia syndrome
2	TWIST, ACS3, SCS	Saethre-Chotzen syndrome Saethre-Chotzen syndrome with eyelid anomalies
2	HADHSC, SCHAD, HHF4	3-hydroxyacyl-CoA dehydrogenase deficiency Hyperinsulinemic hypoglycemia, familial, 4
2	SMARCB1, SNF5, INI1, RDT	Rhabdoid tumors Rhabdoid predisposition syndrome, familial
2	RAPSN, CMS1D, CMS1E	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency
2	WNT7A	Ulna and fibula, absence of, with sever limb deficiency Fuhrmann syndrome
2	PAFAH1B1, LIS1	Lissencephaly-1 Subcortical laminar heterotopia
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	CMKBR5, CCCKR5	HIV infection, susceptibility/resistance to West nile virus, susceptibility to
2	PLEC1, PLTN, EBS1	Muscular dystrophy with epidermolysis bullosa simplex Epidermolysis bullosa simplex, Ogna type
2	DTNA, D18S892E, DRP3, LVNC1	Left ventricular noncompaction with congenital heart defects Left ventricular noncompaction, familial isolated, 1
2	SIX1, BOS3, DFNA23	Brachiootic syndrome 3 Deafness, autosomal dominant 23
2	CCL11, SCYA11	HIV1, resistance to Asthma, susceptibility to
2	DCTN1, HMN7B	Neuropathy, distal hereditary motor, type VIIB Amyotrophic lateral sclerosis, susceptibility to
2	CYP2C9	Tolbutamide poor metabolizer Warfarin sensitivity
2	FOXE3, FKHL12, ASMD	Anterior segment mesenchymal dysgenesis Aphakia, congenital primary
2	GSS, GSHS	Hemolytic anemia due to glutathione synthetase deficiency Glutathione synthetase deficiency
2	TNXB, TNX, TNXB1, TNXBS, TNXB2	Ehlers-Danlos due to tenascin X deficiency Ehlers-Danlos syndrome, hypermobility type
2	NR3C2, MLR, MCR	Pseudohypoaldosteronism type I, autosomal dominant Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
2	MYBPC3, CMH4	Cardiomyopathy, familial hypertrophic, 4 Cardiomyopathy, dilated
2	CRYBB1, CATCN3	Cataract, pulverulent Cataract, congenital nuclear, autosomal recessive 3
2	GFI1, ZNF163	Neutropenia, severe congenital Neutropenia, nonimmune chronic idiopathic, of adults
2	SDHA, SDH2, SDHF	Leigh syndrome Mitochondrial respiratory chain complex II deficiency
2	SCNN1G, PHA1	Liddle syndrome Pseudohypoaldosteronism, type I
2	SCNN1B	Liddle syndrome Pseudohypoaldosteronism, type I
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	KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3	Long QT syndrome-7 Short QT syndrome-3
2	XRCC3	Melanoma, cutaneous malignant, susceptibility to Breast cancer, susceptibility to
2	FEOM3	Fibrosis of extraocular muscles, congenital, 3 Fibrosis, congenital, of vertically acting extraocular muscles
2	STAT4	Rheumatoid arthritis, association with Systemic lupus erythematous, association with
2	STAT1	Mycobacterial infection, atypical, familial disseminated STAT1 deficiency, complete
2	DLX3, TDO	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	RGR	Retinitis pigmentosa, autosomal recessive Retinitis pigmentosa, autosomal dominant
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	GCH1, DYT5	Phenylketonuria, atypical, due to GCH1 deficiency Dystonia-5, DOPA-responsive
2	RUNX2, CBFA1, PEBP2A1, AML3	Cleidocranial dysplasia Dental anomalies, isolated
2	GUCY2D, GUC2D, LCA1, CORD6	Leber congenital amaurosis I Cone-rod dystrophy 6
2	SGCA, ADL, DAG2, LGMD2D, DMDA2	Muscular dystrophy, limb-girdle, type 2D Adhalinopathy, primary
2	BAX	Colorectal cancer T-cell acute lymphoblastic leukemia
2	LBR, PHA	Pelger-Huet anomaly Greenberg dysplasia
2	MXI1	Neurofibrosarcoma Prostate cancer, susceptibility to
2	OPRM1	Response to morphine-6-glucuronide Epilepsy, idiopathic generalized, susceptibility to
2	XK	McLeod syndrome McLeod syndrome with neuroacanthosis
2	SOX3, MRGH	Mental retardation, X-linked, with isolated growth hormone deficiency Infundibular hypoplasia and hypopituitarism
2	VSPA	Turner syndrome-associated neurocognitive phenotype Visuospatial/perceptual abilities
2	RP2	Retinitis pigmentosa-2 Xp11.3 deletion syndrome
2	NDP, ND	Norrie disease Exudative vitreoretinopathy, X-linked
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	STS, ARSC1, ARSC, SSDD	Ichthyosis, X-linked Placental steroid sulfatase deficiency
2	HPRT1, HPRT	Lesch-Nyhan syndrome HPRT-related gout
2	F9, HEMB	Hemophilia B Warfarin sensitivity
2	PHKA2, PHK	Glycogenosis, X-linked hepatic, type I Glycogenosis, X-linked hepatic, type II
2	OPN1LW, RCP, CBP, CBBM	Colorblindness, protan Blue-cone monochromacy
2	OPN1MW, GCP, CBD, CBBM	Colorblindness, deutan Blue-cone monochromacy
2	GLA	Fabry disease Fabry disease, cardiac variant
2	FGD1, FGDY, AAS	Aarskog-Scott syndrome Mental retardation, X-linked nonsyndromic
2	AVPR2, DIR, DI1, ADHR	Diabetes insipidus, nephrogenic Nephrogenic syndrome of inappropriate antidiuresis
2	OCRL, LOCR, OCRL1, NPHL2	Lowe syndrome Dent syndrome
2	FAAP95, FAAP90, FLJ34064, FANCB	Fanconi anemia, complementation group B VACTERL association with hydrocephalus, X-linked
2	PDHA1, PHE1A	Pyruvate dehydrogenase deficiency Leigh syndrome, X-linked
2	DAX1, AHC, AHX, NROB1	Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism Dosage-sensitive sex reversal
2	PQBP1, NPW38, SHS, MRX55, MRXS3, RENS1, MRXS8	Renpenning syndrome Golabi-Ito-Hall syndrome
2	ED1, EDA, HED	Ectodermal dysplasia-1, anhidrotic Hypodontia, X-linked
2	PLP1, PMD	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 XLA and isolated growth hormone deficiency
2	FOXP3, IPEX, AIID, XPID, PIDX	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked Diabetes mellitus, type I, susceptibility to
2	BMP15, GDF9B, ODG2, POF4	Ovarian dysgenesis 2 Premature ovarian failure 4
2	CDKL5, STK9, ISSX	Rett syndrome, atypical Infantile spasm syndrome, X-linked
2	OFD1, CXorf5, SGBS2	Oral-facial-digital syndrome 1 Simpson-Golabi-Behmel syndrome, type 2
2	DKC1, DKC	Dyskeratosis congenita-1 Hoyeraal-Hreidarsson syndrome
2	DCX, DBCN, LISX	Lissencephaly, X-linked Subcortical laminal heteropia, X-linked
2	RPS6KA3, RSK2, MRX19	Coffin-Lowry syndrome Mental retardation, X-linked nonspecific, type 19
2	GPC3, SDYS, SGBS1	Simpson-Golabi-Behmel syndrome, type 1 Wilms tumor, somatic
2	LIPA	Wolman disease Cholesteryl ester storage disease
2	PRSS1, TRY1	Trypsinogen deficiency Pancreatitis, hereditary
2	DPYD, DPD	Thymine-uraciluria Fluorouracil toxicity, sensitivity to
2	F11	Factor XI deficiency, autosomal recessive Factor XI deficiency, autosomal dominant
2	PAH, PKU1	Phenylketonuria Hyperphenylalaninemia, mild
2	MVK, MVLK	Mevalonicaciduria Hyper-IgD syndrome
2	MAT1A, MATA1, SAMS1	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency Methionine adenosyltransferase deficiency, autosomal recessive
2	DIA1	Methemoglobinemia, type I Methemoglobinemia, type II
2	DLD, LAD, PHE3	Maple syrup urine disease, type III Leigh syndrome
2	CBS	Homocystinuria, B6-responsive and nonresponsive types Thrombosis, hyperhomocysteinemic
2	HFE, HLA-H, HFE1	Hemochromatosis Porphyria variegata
2	KLKB1, KLK3	Fletcher factor deficiency Prekallikrein deficiency
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	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	MTACR1, WT2	Wilms tumor, type 2 Adrenocortical carcinoma, hereditary
2	ITGA2, CD49B, BR	Neonatal alloimmune thrombocytopenia Glycoprotein Ia deficiency
2	NTRK1, TRKA, MTC	Insensitivity to pain, congenital, with anhidrosis Medullary thyroid carcinoma, familial
2	TSC2, LAM	Tuberous sclerosis-2 Lymphangioleiomyomatosis, somatic
2	TNNT2, CMH2, CMD1D	Cardiomyopathy, familial hypertrophic, 2 Cardiomyopathy, dilated, 1D
2	TNNI3, CMH7	Cardiomyopathy, familial hypertrophic, 7 Cardiomyopathy, familial restrictive
2	TPM2, TMSB, AMCD1, DA1	Arthrogryposis multiplex congenita, distal, type 1 Nemaline myopathy
2	NOTCH1, TAN1	Aortic valve disease Leukemia, T-cell acute lymphoblastic
2	TGFB1, DPD1, CED	Camurati-Engelmann disease Cystic fibrosis lung disease, modifier of
2	THRB, ERBA2, THR1	Thyroid hormone resistance Thyroid hormone resistance, autosomal recessive
2	TF	Atransferrinemia Iron deficiency anemia, susceptibility to
2	THBD, THRM	Thrombophilia due to thrombomodulin defect Myocardial infarction, susceptibility to
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	FTZF1, FTZ1, SF1	Sex reversal, XY, with adrenal failure Adrenocortical insufficiency without ovarian defect
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	SCN2A1, SCN2A	Seizures, afebrile Seizures, benign familial neonatal-infantile
2	SLC34A1, SLC17A2, NPT2	Urolithiasis, hypophosphatemic Osteoporosis, hypophosphatemic,
2	SLC6A4, HTT, OCD1	Anxiety-related personality traits Obsessive-compulsive disorder 1
2	FUT2, SE	Norwalk virus infection, resistance to Bombay phenotype
2	RYR2, VTSIP, ARVD2, ARVC2	Ventricular tachycardia, stress-induced polymorphic Arrhythmogenic right ventricular dysplasia 2
2	RYR1, MHS, CCO	Malignant hyperthermia susceptibility 1 Central core disease
2	RHAG, RH50A	Anemia, hemolytic, Rh-null, regulator type Rh-mod syndrome
2	PDE6B, PDEB, CSNB3	Night blindness, congenital stationary, type 3 Retinitis pigmentosa, autosomal recessive
2	RPE65, RP20	Leber congenital amaurosis-2 Retinitis pigmentosa-20
2	REN	Hyperproreninemia Renal tubular dysgenesis
2	RAG2	Severe combined immunodeficiency, B cell-negative Omenn syndrome
2	MAF	Cataract, pulverulent, juvenile-onset Cataract, congenital, cerulean type, 4
2	FECH, FCE	Protoporphyria, erythropoietic Protoporphyria, erythropoietic, recessive, with liver failure
2	PTPN1, PTP1B	Insulin resistance, susceptibility to Abdominal body fat distribution, modifier of
2	PROC	Thrombophilia due to protein C deficiency Purpura fulminans, neonatal
2	KCNE1, JLNS, LQT5	Jervell and Lange-Nielsen syndrome Long QT syndrome-5
2	UROD	Porphyria cutanea tarda Porphyria, hepatoerythropoietic
2	SELP, GRMP	Platelet alpha/delta storage pool deficiency Atopy, susceptibility to
2	PDGFRA	Gastrointestinal stromal tumor, somatic Hypereosinophilic syndrome, idiopathic, resistant to imatinib
2	PDGFRB, PDGFR	Myeloproliferative disorder with eosinophilia Myelomonocytic leukemia, chronic
2	PAI1, PLANH1, SERPINE1	Thrombophilia due to excessive plasminogen activator inhibitor Hemorrhagic diathesis due to PAI1 deficiency
2	JUP, DP3, PDGB, ARVD12	Naxos disease Arrhythmogenic right ventricular dysplasia, familial, 12
2	MTHFD, MTHFC	Spina bifida, folate-sensitive, susceptibility to Abruptio placentae, susceptibility to
2	GPI	Hemolytic anemia due to glucosephosphate isomerase deficiency Hydrops fetalis, one form
2	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	PON1, PON, ESA	Coronary artery disease, susceptibility to Coronary artery spasm, susceptibility to
2	PTH	Hypoparathyroidism, autosomal dominant Hypoparathyroidism, autosomal recessive
2	PAX9	Oligodontia Hypodontia
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	NRAS	Colorectal cancer Thyroid carcinoma, follicular
2	RAF1, CRAF, NS5	Noonan syndrome 5 LEOPARD syndrome 2
2	OAS1, OIAS	Viral infection, susceptibility to Diabetes mellitus, type 1, susceptibility to
2	LEP, OB	Obesity, severe, due to leptin deficiency Obesity, morbid, with hypogonadism
2	NPM1	Leukemia, acute promyelocytic, NPM/RARA type Leukemia, acute myeloid
2	NOS2A, NOS2	Hypertension, susceptibility to Malaria, resistance to
2	CXCR4, D2S201E, NPY3R, WHIM	WHIM syndrome Myelokathexis, isolated
2	NEFL, CMT2E, CMT1F	Charcot-Marie-Tooth disease, type 2E Charcot-Marie-Tooth disease, type 1F
2	NRL, D14S46E, RP27	Retinitis pigmentosa-27 Retinal degeneration, autosomal recessive, clumped pigment type
2	MYL2, CMH10	Cardiomyopathy, hypertrophic, mid-left ventricular chamber type Cardiomyopathy, familial hypertrophic, 10
2	MYH8	Carney complex variant Trismus-pseudocamptodactyly syndrome
2	MYH3	Arthrogryposis, distal, type 2A Arthrogryposis, distal, type 2B
2	MYH6, ASD3, MYHCA	Cardiomyopathy, familial hypertrophic Atrial septal defect 3
2	MYF6	Myopathy, centronuclear Becker muscular dystrophy modifier
2	MPL, TPOR, MPLV	Thrombocytopenia, congenital amegakaryocytic Thrombycytosis, susceptibility to
2	MTP	Abetalipoproteinemia Metabolic syndrome, protection against
2	LAMA2, LAMM	Muscular dystrophy, congenital merosin-deficient Muscular dystrophy, congenital, due to partial LAMA2 deficiency
2	MGP, NTI	Keutel syndrome Natural teeth remaining intact
2	PLOD, PLOD1	Ehlers-Danlos syndrome, type VI Nevo syndrome
2	LHB	Hypogonadism, hypergonadotropic Male pseudohermaphroditism due to defective LH
2	LOR	Vohwinkel syndrome with ichthyosis Erythrokeratoderma, progressive symmetric
2	ALOX5	Atherosclerosis, susceptibility to Asthma, diminished response to antileukotriene treatment in
2	LPA	Coronary artery disease, susceptibility to LPA deficiency, congenital
2	BCR, CML, PHL, ALL	Leukemia, chronic myeloid Leukemia, acute lymphocytic
2	LAMB2, LAMS	Nephrosis, congenital, with or without ocular abnormalities Pierson syndrome
2	LAMB3	Epidermolysis bullosa, Herlitz junctional type Epidermolysis bullosa, generalized atrophic benign
2	LAMC2, LAMNB2, LAMB2T	Epidermolysis bullosa, Herlitz junctional type Epidermolysis bullosa, generalized atrophic benign
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	IL6, IFNB2, BSF2	Osteopenia/osteoporosis Kaposi sarcoma, susceptibility to
2	IRS1	Diabetes mellitus, noninsulin-dependent Coronary artery disease, susceptibility to
2	IMPDH1, RP10, LCA11	Retinitis pigmentosa-10 Leber congenital amaurosis XI
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	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	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	SLC2A2, GLUT2	Diabetes mellitus, noninsulin-dependent Fanconi-Bickel syndrome
2	GGCX	Vitamin K-dependent coagulation defect Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
2	GABRA1, EJM, ECA4	Epilepsy, juvenile myoclonic Epilepsy, childhood absence, 4
2	FLT4, VEGFR3, PCL	Lymphedema, hereditary I Hemangioma, capillary infantile, somatic
2	FLG	Ichthyosis vulgaris Atopic dermatitis, susceptibility to
2	FTL	Hyperferritinemia-cataract syndrome Basal ganglia disease, adult-onset
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	MSSE, ESS1	Epithelioma, self-healing, squamous 1, Ferguson-Smith type Basal cell carcinoma
2	ELN	Supravalvar aortic stenosis Cutis laxa, AD
2	ELA2	Hematopoiesis, cyclic Neutropenia, congenital
2	SLC26A3, DRA, CLD	Colon cancer Chloride diarrhea, congenital, Finnish type
2	SLC6A3, DAT1	Attention-deficit hyperactivity disorder, susceptibility to Nicotine dependence, protection against
2	DRD3, ETM1, FET1	Schizophrenia, susceptibility to Essential tremor, susceptibility to
2	NQO1, DIA4, NMOR1	Benzene toxicity, susceptibility to Leukemia, post-chemotherapy, susceptibility to
2	DES, CMD1I	Myopathy, desmin-related, cardioskeletal Cardiomyopathy, dilated, 1I
2	ALAD	Porphyria, acute hepatic Lead poisoning, susceptibility to
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	CPO	Coproporphyria Harderoporphyrinuria
2	C9	C9 deficiency C9 deficiency with dermatomyositis
2	MCP, CD46	Hemolytic-uremic syndrome Measles, susceptibility to
2	C3, ARMD9	C3 deficiency Macular degeneration, age-related, 9
2	C1S	C1r/C1s deficiency, combined C1s deficiency, isolated
2	MME, CD10, CALLA, NEP	Neutral endopeptidase deficiency Membranous glomerulonephritis, antenatal
2	MMP2, CLG4A, MONA	Osteolysis, idiopathic, Saudi type Winchester syndrome
2	COL9A2, EDM2	Epiphyseal dysplasia, multiple, 2 Intervertebral disc disease, susceptibility to
2	COL8A2, FECD, PPCD2	Fuchs endothelial corneal dystrophy Corneal dystrophy, polymorphous posterior, 2
2	COL6A3	Bethlem myopathy Ullrich congenital muscular dystrophy
2	COL6A2	Bethlem myopathy Ullrich congenital muscular dystrophy
2	COL5A1	Ehlers-Danlos syndrome, type II Ehlers-Danlos syndrome, type I
2	COL4A4	Alport syndrome, autosomal recessive Hematuria, familial benign
2	COL4A1	Porencephaly Brain small vessel disease with hemorrhage
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	COMT	Schizophrenia, susceptibility to Panic disorder, susceptibility to
2	TYRP1, CAS2, GP75	Albinism, brown Albinism, rufous
2	NUP214, D9S46E, CAN, CAIN	Leukemia, acute myeloid Leukemia, T-cell acute lymphoblastic
2	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	LU, AU, BCAM	Blood group, Lutheran system Blood group, Auberger system
2	SLC14A1, JK, UTE, UT1	Urea transport defect, compensated Blood group, Kidd
2	GYPC, GE, GPC	Malaria, resistance to Blood group, Gerbich
2	FY, GPD	Blood group, Duffy system Malaria, vivax, protection against
2	ADRB1, ADRB1R, RHR	Resting heart rate congestive heart failure, susceptibility to
2	ATP2A2, ATP2B, DAR	Darier disease Acrokeratosis verruciformis
2	AQP1, CHIP28, CO	Blood group, Colton Aquaporin-1 deficiency
2	APOA2	Apolipoprotein A-II deficiency Hypercholesterolemia, familial, modification of
2	SERPINA3, AACT, ACT	Alpha-1-antichymotrypsin deficiency Cerebrovascular disease, occlusive
2	AGTR1, AGTR1A, AT2R1	Hypertension, essential Renal tubular dysgenesis
2	SLC3A1, ATR1, D2H, NBAT	Cystinuria Homozygous 2p16 deletion syndrome
2	AFP, HPAFP	AFP deficiency, congenital Hereditary persistence of alpha-fetoprotein
2	A2M	Emphysema due to alpha-2-macroglobulin deficiency Alzheimer disease, susceptibility to
2	H19, D11S813E, ASM1, BWS	Beckwith-Wiedemann syndrome Silver-Russell syndrome
2	ACTN3	Alpha-actinin-3 deficiency Elite sprint athletic performance
2	ACTC1, CMD1R	Cardiomyopathy, dilated, 1R Cardiomyopathy, familial hypertrophic
2	ASCL1, ASH1	Central hypoventilation syndrome, congenital Haddad syndrome
2	CHRND, ACHRD, SCCMS, CMS2A, FCCMS	Myasthenic syndrome, slow-channel congenital Myasthenic syndrome, fast-channel congenital
2	CHRNB1, ACHRB, SCCMS, CMS2A, CMS1D	Myasthenic syndrome, slow-channel congenital Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
2	CHRNA1, ACHRD, CMS2A, SCCMS, FCCMS	Myasthenic syndrome, slow-channel congenital Myasthenic syndrome, fast-channel congenital
2	ALDH2	Alcohol intolerance, acute Fetal alcohol syndrome

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