omimdefinitions
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| Exudative vitreoretinopathy, 133780 (3)
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| * 604579 FRIZZLED, DROSOPHILA, HOMOLOG OF, 4| FZD4
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| Albinism, oculocutaneous, type IA, 203100 (3)
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| * 606933 TYROSINASE| TYR
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| Albinism, oculocutaneous, type IB, 606952 (3)
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| [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3)
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| {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3)
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| [Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3)
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| Pyloric stenosis, infantile hypertrophic, 3 (2)
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| Papillon-Lefevre syndrome, 245000 (3)
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| Haim-Munk syndrome, 245010 (3)
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| Periodontitis 1, juvenile, 170650 (3)
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| Optic atrophy-7, 612989 (3)
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| Mosaic variegated aneuploidy syndrome 2, 614114 (3)
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| * 607537 MASTERMIND-LIKE 2| MAML2
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| Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)
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| Ataxia-telangiectasia-like disorder, 604391 (3)
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| [Fasting plasma glucose level QTL 3] (2)
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| * 600804 MELATONIN RECEPTOR 1B| MTNR1B
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| Glomerulosclerosis, focal segmental, 2, 603965 (3)
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| Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
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| ?Progesterone resistance, 264080 (2)
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| * 120353 MATRIX METALLOPROTEINASE 1| MMP1
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| {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3)
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| * 603113 PROTEIN PHOSPHATASE 2, STRUCTURAL/REGULATORY SUBUNIT A, BETA| PPP2R1B
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| Deafness, autosomal dominant 8/12, 601543 (3)
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| Deafness, autosomal recessive 21, 603629 (3)
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| ?Anal canal carcinoma (2)
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| Ataxia-telangiectasia, 208900 (3)
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| * 607585 ATAXIA-TELANGIECTASIA MUTATED GENE| ATM
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| {Breast cancer, susceptibility to}, 114480 (3)
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| Lymphoma, mantle cell (3)
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| T-cell prolymphocytic leukemia, somatic (3)
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| * 608633 CASPASE 12, APOPTOSIS-RELATED CYSTEINE PROTEASE| CASP12
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| Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
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| Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3)
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| Spondyloepimetaphyseal dysplasia, Missouri type, 602111 (3)
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| * 600108 MATRIX METALLOPROTEINASE 13| MMP13
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| Amelogenesis imperfecta, type IIA2, 612529 (3)
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| Alpha-methylacetoacetic aciduria, 203750 (3)
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| Myopathy, myofibrillar, 2, 608810 (3)
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| Cataract 16, multiple types, 613763 (3)
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| Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, 613869 (3)
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| Cardiomyopathy, dilated, 1II, 615184 (3)
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| Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)
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| Congenital disorder of glycosylation, type Il, 608776 (3)
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| ApoA-I and apoC-III deficiency, combined (3)
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| Hypoalphalipoproteinemia, 604091 (3)
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| Corneal clouding, autosomal recessive (3)
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| Amyloidosis, 3 or more types, 105200 (3)
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| Hyperalphalipoproteinemia 2, 614028 (3)
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| {Hypertriglyceridemia, susceptibility to}, 145750 (3)
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| Hyperchylomicronemia, late-onset, 144650 (3)
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| [Bone mineral density QTL 5] (2)
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| Breast cancer, 11:22 translocation associated (1)
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| Immunodeficiency 19, 615617 (3)
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| Immunodeficiency 18, 615615 (3)
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| * 186830 CD3 ANTIGEN, EPSILON SUBUNIT| CD3E
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| Immunodeficiency 17, CD3 gamma deficient, 615607 (3)
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| {Colorectal cancer, susceptibility to, 7} (2)
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| Hypomagnesemia-2, renal, 154020 (3)
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| Tourette syndrome (2)
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| Opsismodysplasia, 258480 (3)
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| Jacobsen syndrome (4)
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| Wiedemann-Steiner syndrome, 605130 (3)
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| Leukemia, myeloid/lymphoid or mixed-lineage (2)
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| Microphthalmia, isolated 5, 611040 (3)
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| Nanophthalmos 2, 609549 (3)
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| {Coronary heart disease, susceptibility to, 6}, 614466 (3)
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| {Fatty liver disease, nonalcoholic, susceptibility to, 2} (2)
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| Deafness, autosomal recessive 24, 611022 (3)
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| Atrial fibrillation, familial, 14, 615378 (3)
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| Long QT syndrome-10, 611819 (3)
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| Paragangliomas 1, with or without deafness, 168000 (3)
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| * 602690 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN|
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| Carcinoid tumors, intestinal, 114900 (3)
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| Merkel cell carcinoma, somatic (3)
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| Paraganglioma and gastric stromal sarcoma, 606864 (3)
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| Cowden syndrome 3, 615106 (3)
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| Glycogen storage disease Ib, 232220 (3)
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| Glycogen storage disease Ic, 232240 (3)
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| ?Thrombocytopenia, Paris-Trousseau type (4)
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| Trehalase deficiency, 612119 (1)
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| {Nonsmall cell lung cancer} (2)
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| {Adiponectin, serum level of, QTL4} (2)
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| Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3)
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| * 600644 POLIOVIRUS RECEPTOR-LIKE 1| PVRL1
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| {Pneumococcal disease, invasive, protection against}, 610799 (3)
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| {Bacteremia, protection against}, 614382 (3)
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| * 606252 TIR DOMAIN-CONTAINING ADAPTOR PROTEIN| TIRAP
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| {Tuberculosis, protection against}, 607948 (3)
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| Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)
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| Pyruvate dehydrogenase E2 deficiency, 245348 (3)
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| * 126450 DOPAMINE RECEPTOR D2| DRD2
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| * 600008 NICOTINAMIDE N-METHYLTRANSFERASE| NNMT
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| * 176797 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 16| ZBTB16
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| Skeletal defects, genital hypoplasia, and mental retardation, 612447 (3)
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| Dopamine receptor D2, reduced brain density of (3)
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| * 602005 SORTILIN-RELATED RECEPTOR| SORL1
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| * 604763 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 12| ARHGEF12
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