omimdefinitions
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| Spermatogenic failure 12, 615413 (3)
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| Combined oxidative phosphorylation deficiency 18, 615578 (3)
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| {Macular degeneration, age-related, 8}, 613778 (3)
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| {Otitis media, susceptibility to} (2)
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| Congenital disorder of glycosylation, type Ih, 608104 (3)
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| * 600098 RELATED RAS VIRAL ONCOGENE HOMOLOG 2| RRAS2
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| [AMP deaminase deficiency, erythrocytic], 612874 (3)
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| [Blood group, Indian system], 609027 (3)
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| Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3)
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| [Blood group, Raph], 179620 (3)
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| * 600856 CYCLIN-DEPENDENT KINASE INHIBITOR 1C| CDKN1C
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| IMAGE syndrome, 614732 (3)
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| Ceroid lipofuscinosis, neuronal, 10, 610127 (3)
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| Mental retardation, autosomal dominant 24, 615828 (3)
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| * 126452 DOPAMINE RECEPTOR D4| DRD4
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| [Novelty seeking personality], 601696 (1)
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| {Attention deficit-hyperactivity disorder}, 143465 (3)
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| * 103280 H19, IMPRINTED MATERNALLY EXPRESSED NONCODING TRANSCRIPT| H19
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| Silver-Russell syndrome, 180860 (3)
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| Wilms tumor 2, 194071 (3)
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| {Influenza, severe, susceptibility to}, 614680 (3)
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| Osteogenesis imperfecta, type V, 610967 (3)
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| Long QT syndrome 1, 192500 (3)
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| Jervell and Lange-Nielsen syndrome, 220400 (3)
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| Atrial fibrillation, familial, 3, 607554 (3)
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| Short QT syndrome 2, 609621 (3)
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| * 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1| KCNQ1
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| Thalassemia, Hispanic gamma-delta-beta, 613985 (3)
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| Sickle cell anemia, 603903 (3)
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| Thalassemias, beta-, 613985 (3)
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| Erythremias, beta- (3)
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| Methemoglobinemias, beta- (3)
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| Heinz body anemias, beta-, 140700 (3)
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| Thalassemia-beta, dominant inclusion-body, 603902 (3)
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| Hereditary persistence of fetal hemoglobin, 141749 (3)
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| Delta-beta thalassemia, 141749 (3)
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| {Malaria, resistance to}, 611162 (3)
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| * 142000 HEMOGLOBIN--DELTA LOCUS| HBD
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| Thalassemia due to Hb Lepore (3)
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| * 142200 HEMOGLOBIN, GAMMA A| HBG1
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| * 142250 HEMOGLOBIN, GAMMA G| HBG2
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| Cyanosis, transient neonatal, 613977 (3)
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| * 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG| HRAS
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| Costello syndrome, 218040 (3)
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| {Thyroid carcinoma, follicular, somatic}, 188470 (3)
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| Congenital myopathy with excess of muscle spindles, 218040 (3)
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| {Nevus sebaceous, somatic}, 162900 (3)
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| Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
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| Hyperproinsulinemia, familial, with or without diabetes (3)
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| Maturity-onset diabetes of the young, type 10, 613370 (3)
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| Diabetes mellitus, permanent neonatal, 606176 (3)
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| Diabetes mellitus, type 1, 125852 (3)
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| Diabetes mellitus, insulin-dependent, 2, 125852 (3)
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| * 604115 KCNQ1-OVERLAPPING TRANSCRIPT 1| KCNQ1OT1
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| Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)
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| Neutral lipid storage disease with myopathy, 610717 (3)
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| * 602631 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 18|
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| Rhabdomyosarcoma, somatic, 268210 (3)
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| Lung cancer, somatic, 211980 (3)
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| Epileptic encephalopathy, early infantile, 3, 609304 (3)
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| {Systemic lupus erythematosus with nephritis, susceptibility to, 3} (2)
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| Immunodeficiency 10, 612783 (3)
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| Myopathy, tubular aggregate, 1 160565 (3)
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| Stormorken syndrome, 185070 (3)
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| Segawa syndrome, recessive, 605407 (3)
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| * 191043 TROPONIN I, FAST-TWITCH SKELETAL MUSCLE ISOFORM| TNNI2
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| * 600692 TROPONIN T3, FAST SKELETAL| TNNT3
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| Ceroid lipofuscinosis, neuronal, 2, 204500 (3)
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| Spinocerebellar ataxia, autosomal recessive 7, 609270 (3)
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| Transaldolase deficiency, 606003 (3)
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| Van Maldergem syndrome 1, 601390 (3)
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| Glycogen storage disease XI, 612933 (3)
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| Mitral valve prolapse, myxomatous 2 (2)
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| Niemann-Pick disease, type A, 257200 (3)
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| Niemann-Pick disease, type B, 607616 (3)
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| * 168450 PARATHYROID HORMONE| PTH
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| Hypoparathyroidism, autosomal recessive, 146200 (3)
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| Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3)
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| Sveinsson choreoretinal atrophy, 108985 (3)
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| Hyperekplexia 3, 614618 (3)
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| * 601387 TUMOR SUSCEPTIBILITY GENE 101| TSG101
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| Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
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| Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
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| Diabetes mellitus, transient neonatal 2, 610374 (3)
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| * 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8| ABCC8
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| Diabetes mellitus, permanent neonatal, 606176 (3)
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| Cardiomyopathy, dilated, 1M, 607482 (3)
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| Cardiomyopathy, familial hypertrophic, 12, 612124 (3)
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| Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)
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| * 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11| KCNJ11
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| Diabetes mellitus, permanent neonatal, with neurologic features, 606176 (3)
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| {Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
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| Diabetes mellitus, transient neonatal, 3, 610582 (3)
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| Usher syndrome, type 1C, 276904 (3)
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| Deafness, autosomal recessive 18A, 602092 (3)
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| Fanconi anemia, complementation group F, 603467 (3)
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| Fibromatosis, gingival, 4 (2)
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| Hemihypertrophy (2)
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| * 186921 LIM DOMAIN ONLY 1| LMO1
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| Left ventricular noncompaction 2 (2)
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