omimdefinitions

| * 606609 3-PRIME @REPAIR EXONUCLEASE 1| TREX1
| Cardiomyopathy, dilated, 1Z, 611879 (3)
| Cardiomyopathy, familial hypertrophic, 13, 613243 (3)
| [IMPDH2 enzyme activity, variation in] (3)
| Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3)
| Glycine encephalopathy, 605899 (3)
| Septooptic dysplasia, 182230 (3)
| * 601802 HOMEOBOX GENE EXPRESSED IN ES CELLS| HESX1
| Growth hormone deficiency with pituitary anomalies, 182230 (3)
| * 600564 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 4| ITIH4
| Aminoacylase 1 deficiency, 609924 (3)
| Sinoatrial node dysfunction and deafness, 614896 (3)
| Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3)
| Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 (3)
| Congenital disorder of glycosylation, type In, 612015 (3)
| Systemic lupus erythematosus 16, 614420 (3)
| Chanarin-Dorfman syndrome, 275630 (3)
| {Celiac disease, susceptibility to, 9} (2)
| * 601267 CHEMOKINE, CC MOTIF, RECEPTOR 2| CCR2
| * 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5| CCR5
| {West nile virus, susceptibility to}, 610379 (3)
| {Hepatitis C virus, resistance to}, 609532 (3)
| {Diabetes mellitus, insulin-dependent, 22}, 612522 (3)
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3)
| D-glyceric aciduria, 220120 (3)
| * 139360 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE
| Ventricular tachycardia, idiopathic, 192605 (3)
| Night blindness, congenital stationary, autosomal dominant 3, 610444 (3)
| {Hirschsprung disease, susceptibility to, 6} (2)
| Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3)
| Pierson syndrome, 609049 (3)
| Cholangitis, primary sclerosing (2)
| Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3)
| Long QT syndrome-3, 603830 (3)
| Brugada syndrome 1, 601144 (3)
| Heart block, progressive, type IA, 113900 (3)
| * 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT| SCN5A
| Ventricular fibrillation, familial, 1, 603829 (3)
| Sick sinus syndrome 1, 608567 (3)
| Cardiomyopathy, dilated, 1E, 601154 (3)
| {Sudden infant death syndrome, susceptibility to}, 272120 (3)
| Atrial fibrillation, familial, 10, 614022 (3)
| Deafness, autosomal recessive 6, 600971 (3)
| Robinow syndrome, autosomal dominant, 180700 (3)
| [Mean platelet volume QTL2] (2)
| Spondylocarpotarsal synostosis syndrome, 272460 (3)
| Larsen syndrome, 150250 (3)
| Atelosteogenesis, type I, 108720 (3)
| Atelosteogenesis, type III, 108721 (3)
| Boomerang dysplasia, 112310 (3)
| ?Zimmermann-Laband syndrome (2)
| Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3)
| Spinocerebellar ataxia 7, 164500 (3)
| Adams-Oliver syndrome 4, 615297 (3)
| Mental retardation with language impairment and autistic features, 613670 (3)
| {Hypertension, essential, susceptibility to, 7} (2)
| Waardenburg syndrome, type 2A, 193510 (3)
| Waardenburg syndrome/ocular albinism, digenic, 103470 (3)
| Tietz albinism-deafness syndrome, 103500 (3)
| {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 (3)
| Epilepsy, progressive myoclonic 5, 613832 (3)
| Keratoconus 3 (2)
| Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
| Vesicoureteral reflux 2, 610878 (3)
| Glycogen storage disease IV, 232500 (3)
| Polyglucosan body disease, adult form, 263570 (3)
| * 608845 ADP-RIBOSYLATION FACTOR-LIKE 6| ARL6
| {Bardet-Biedl syndrome 1, modifier of}, 209900 (3)
| Retinitis pigmentosa 55, 613575 (3)
| {Dyslexia, susceptibility to, 5} (2)
| {Speech-sound disorder} (2)
| Biliary cirrhosis, primary, 1 (2)
| Dementia, familial, nonspecific, 600795 (3)
| Amyotrophic lateral sclerosis 17, 614696 (3)
| Pituitary hormone deficiency, combined, 1, 613038 (3)
| Creatinine clearance QTL (2)
| Cardiomyopathy, familial hypertrophic, 8, 608751 (3)
| ?Immunodeficiency, common variable, 9, 615559 (3)
| Hereditary motor and sensory neuropathy, proximal type, 604484 (3)
| Chondrosarcoma, extraskeletal myxoid, 612237 (1)
| ?Spastic paraplegia 57, autosomal recessive, 615658 (3)
| Joubert syndrome 8, 612291 (3)
| Retinitis pigmentosa 56, 613581 (3)
| * 607056 INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN 2| IMPG2
| Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3)
| Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)
| Camptodactyly 1 (2)
| Coproporphyria, 121300 (3)
| * 612732 COPROPORPHYRINOGEN OXIDASE| CPOX
| {Coronary heart disease, susceptibility to, 5}, 608901 (3)
| Orotic aciduria, 258900 (3)
| {Malignant hyperthermia susceptibility 4} (2)
| C syndrome, 211750 (3)
| Stuttering, familial persistent, 3 (2)
| Dyskinesia, familial, with facial myokymia, 606703 (3)
| Adams-Oliver syndrome 1, 100300 (3)
| * 126451 DOPAMINE RECEPTOR D3| DRD3
| {Essential tremor, susceptibility to}, 190300 (3)
| Thyrotropin-releasing hormone deficiency, 275120 (1)
| Myotonic dystrophy 2, 602668 (3)

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