omimdefinitions
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| * 601607 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,
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| Mental retardation, autosomal dominant 15, 614608 (3)
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| {Schwannomatosis-1, susceptibility to}, 162091 (3)
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| Polymicrogyria with optic nerve hypoplasia, 613180 (3)
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| Glutathioninuria (1)
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| {Schwannomatosis-2, susceptibility to}, 615670 (3)
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| * 137181 GAMMA-GLUTAMYLTRANSFERASE 2| GGT2
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| Chromosome 22q11.2 deletion syndrome, distal (4)
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| Chromosome 22q11.2 microduplication syndrome (4)
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| Supernumerary der(22)t(8-22) syndrome (4)
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| Emanuel syndrome (4)
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| Polyarteritis nodosa, 615688 (3)
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| {Schizophrenia, susceptibility to}, 181500 (3)
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| {Panic disorder, susceptibility to}, 167870 (3)
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| * 138720 GLYCOPROTEIN Ib, PLATELET, BETA POLYPEPTIDE| GP1BB
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| Giant platelet disorder, isolated, 231200 (3)
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| * 153620 MACROPHAGE MIGRATION INHIBITORY FACTOR| MIF
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| May-Hegglin anomaly, 155100 (3)
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| Fechtner syndrome, 153640 (3)
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| Sebastian syndrome, 605249 (3)
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| Deafness, autosomal dominant 17, 603622 (3)
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| Epstein syndrome, 153650 (3)
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| Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3)
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| Opitz GBBB syndrome, type II (4)
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| Hyperprolinemia, type I, 239500 (3)
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| {Schizophrenia, susceptibility to, 4}, 600850 (3)
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| Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
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| * 602054 T-BOX 1| TBX1
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| DiGeorge syndrome, 188400 (3)
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| Velocardiofacial syndrome, 192430 (3)
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| Tetralogy of Fallot, 187500 (3)
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| Beta-ureidopropionase deficiency, 613161 (3)
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| Cataract 17, multiple types, 611544 (3)
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| Cataract 3, multiple types, 601547 (3)
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| Cataract 22, autosomal recessive, 609741 (3)
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| Hermansky-Pudlak syndrome 4, 614073 (3)
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| Cataract 23, 610425 (3)
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| Spinal muscular atrophy, Jokela type (2)
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| Transcobalamin II deficiency, 275350 (3)
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| Leukemia, chronic myeloid, 608232 (3)
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| * 151410 BREAKPOINT CLUSTER REGION| BCR
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| Agammaglobulinemia 2, 613500 (3)
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| Peroxisome biogenesis disorder 7A (Zellweger), 614872 (3)
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| Peroxisome biogenesis disorder 7B, 614873 (3)
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| Deafness, autosomal recessive 40 (2)
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| Candidiasis, familial, 5, autosomal recessive, 613953 (3)
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| Facial clefting, oblique, 1, 600251 (3)
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| Vertigo, benign recurrent, 2 (2)
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| Ewing sarcoma, 612219 (3)
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| * 133450 EWING SARCOMA BREAKPOINT REGION 1| EWSR1
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| Heme oxygenase-1 deficiency, 614034 (3)
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| * 141250 HEME OXYGENASE 1| HMOX1
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| {Kala-azar, susceptibility to, 1} (2)
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| Myopia-6 (2)
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| {Smoking as a quantitative trait locus 2} (2)
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| {Major affective disorder-7, susceptibility to}, 612371 (3)
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| CDAGS syndrome (2)
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| Parkinson disease 15, autosomal recessive, 260300 (3)
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| [Hematocrit/hemoglobin quantitative trait locus 3] (2)
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| Iron-refractory iron deficiency anemia, 206200 (3)
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| {Hyperapobetalipoproteinemia, susceptibility to} (3)
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| Li-Fraumeni syndrome, 609265 (3)
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| Osteosarcoma, somatic, 259500 (3)
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| {Breast cancer, susceptibility to}, 114480 (3)
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| {Prostate cancer, familial, susceptibility to}, 176807 (3)
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| {Breast and colorectal cancer, susceptibility to} (3)
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| * 611082 MIAT GENE| MIAT
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| Insulinoma (1)
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| Optic atrophy 5 (2)
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| Sorsby fundus dystrophy, 136900 (3)
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| * 162230 NEUROFILAMENT PROTEIN, HEAVY POLYPEPTIDE| NEFH
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| Neurofibromatosis, type 2, 101000 (3)
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| * 607379 NEUROFIBROMIN 2| NF2
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| Schwannomatosis, 162091 (3)
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| Epilepsy, familial focal, with variable foci, 604364 (3)
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| Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)
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| {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3)
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| * 603743 APOLIPOPROTEIN L-I| APOL1
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| * 607252 APOLIPOPROTEIN L-II| APOL2
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| * 607254 APOLIPOPROTEIN L-IV| APOL4
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| {Prostate cancer, susceptibility to}, 176807 (2)
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| * 615870 INTRAFLAGELLAR TRANSPORT 27, CHLAMYDOMONAS, HOMOLOG OF| IFT27
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| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)
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| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3)
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| Mammary-digital-nail syndrome (2)
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| * 190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE| PDGFB
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| Dermatofibrosarcoma protuberans, 607907 (3)
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| Basal ganglia calcification, idiopathic, 5, 615483 (3)
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| Neutrophil immunodeficiency syndrome, 608203 (3)
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| * 156100 MENINGIOMA 1 GENE| MN1
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| Spinocerebellar ataxia 10, 603516 (3)
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| Muscular dystrophy, congenital, megaconial type, 602541 (3)
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| Chromosome 22q13 duplication syndrome, 615538 (4)
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| Rubinstein-Taybi syndrome 2, 613684 (3)
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| * 602700 E1A-BINDING PROTEIN, 300-KD| EP300
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| {Menarche, age at, QTL} (2)
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| * 606078 MEGAKARYOBLASTIC LEUKEMIA 1 GENE| MKL1
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| {Fatty liver disease, nonalcoholic, susceptibility to, 1} (2)
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| {Narcolepsy 4} (2)
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| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)
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