omimdefinitions
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| * 148080 KERATIN 10| KRT10
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| Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
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| Ichthyosis with confetti, 609165 (3)
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| Myopia 5 (2)
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| * 171190 PHENYLETHANOLAMINE N-METHYLTRANSFERASE| PNMT
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| Patella aplasia or hypoplasia (2)
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| Ovalocytosis (3)
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| Spherocytosis, type 4, 612653 (3)
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| [Malaria, resistance to], 611162 (3)
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| Renal tubular acidosis, distal, AD, 179800 (3)
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| Renal tubular acidosis, distal, AR, 611590 (3)
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| [Blood group, Diego], 110500 (3)
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| [Blood group, Waldner], 112010 (3)
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| [Blood group, Wright], 112050 (3)
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| [Blood group, Froese], 601551 (3)
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| [Blood group, Swann], 601550 (3)
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| Small patella syndrome, 147891 (3)
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| * 126430 TOPOISOMERASE, DNA, II, ALPHA| TOP2A
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| Pseudohypoaldosteronism, type IIB, 614491 (3)
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| * 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2| ERBB2
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| Glioblastoma, somatic, 137800 (3)
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| Gastric cancer, somatic, 613659 (3)
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| Ovarian cancer, somatic, (3)
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| * 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU| MAPT
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| Pick disease, 172700 (3)
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| Supranuclear palsy, progressive, 601104 (3)
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| Supranuclear palsy, progressive atypical, 260540 (3)
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| {Parkinson disease, susceptibility to}, 168600 (3)
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| Tauopathy and respiratory failure (3)
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| Leukemia, acute promyelocytic, 612376 (1)
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| * 601156 CHEMOKINE, CC MOTIF, LIGAND 11| CCL11
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| {Asthma, susceptibility to}, 600807 (3)
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| Meier-Gorlin syndrome 5, 613805 (3)
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| Osteogenesis imperfecta, type XI, 610968 (3)
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| {Inflammatory bowel disease 22} (2)
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| Spermatogenic failure 11, 615081 (3)
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| White sponge nevus, 615785 (3)
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| Ovarian dysgenesis 3, 614324 (3)
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| * 603111 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,
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| * 156490 NONMETASTATIC CELLS 1, PROTEIN EXPRESSED IN| NME1
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| Osteopetrosis, autosomal recessive 6, 611497 (3)
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| * 604895 T-BOX 21| TBX21
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| Asthma and nasal polyps, 208550 (3)
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| Dowling-Degos disease 3 (2)
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| Trichodontoosseous syndrome, 190320 (3)
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| Amelogenesis imperfecta, type IV, 104510 (3)
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| * 608125 XYLOSYLTRANSFERASE 2| XYLT2
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| Ciliary dyskinesia, primary, 17, 614679 (3)
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| Chromosome 17q21.31 duplication syndrome (4)
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| Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3)
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| Koolen-De Vries syndrome, 610443 (3)
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| N-acetylglutamate synthase deficiency, 237310 (3)
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| Osteogenesis imperfecta, type I, 166200 (3)
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| OI type II, 166210 (3)
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| OI type III, 259420 (3)
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| OI type IV, 166220 (3)
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| Ehlers-Danlos syndrome, type I, 130000 (3)
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| Ehlers-Danlos syndrome, type VIIA, 130060 (3)
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| {Osteoporosis}, 166710 (3)
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| Caffey disease, 114000 (3)
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| [Bone mineral density variation QTL], 166710 (3)
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| Mental retardation, autosomal recessive 35, 615162 (3)
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| Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3)
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| * 138945 GRANULIN PRECURSOR| GRN
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| Ceroid lipofuscinosis, neuronal, 11, 614706 (3)
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| Glanzmann thrombasthenia, 273800 (3)
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| * 607759 INTEGRIN, ALPHA-2B| ITGA2B
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| Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
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| Glanzmann thrombasthenia, 273800 (3)
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| Thrombocytopenia, neonatal alloimmune (3)
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| {Myocardial infarction, susceptibility to}, 608446 (3)
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| Purpura, posttransfusion (3)
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| Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
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| Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
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| Renal cell carcinoma, papillary, 3 (2)
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| Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3)
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| * 605882 BRCA1-INTERACTING PROTEIN 1| BRIP1
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| Fanconi anemia, complementation group J, 609054 (3)
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| Nephrotic syndrome, type 7, 615008 (3)
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| Symphalangism, proximal, 185800 (3)
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| Multiple synostosis syndrome 1, 186500 (3)
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| Tarsal-carpal coalition syndrome, 186570 (3)
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| Stapes ankylosis with broad thumb and toes, 184460 (3)
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| Brachydactyly, type B2, 611377 (3)
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| Retinitis pigmentosa 36, 610599 (3)
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| Fanconi anemia, complementation group O, 613390 (3)
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| {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 (3)
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| * 605100 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1D| PPM1D
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| Mulibrey nanism, 253250 (3)
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| * 176960 PROTEIN KINASE C, ALPHA| PRKCA
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| * 150200 CHORIONIC SOMATOMAMMOTROPIN HORMONE 1| CSH1
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| Growth hormone deficiency, isolated, type IA, 262400 (3)
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| * 139250 GROWTH HORMONE 1| GH1
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| Growth hormone deficiency, isolated, type II, 173100 (3)
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| Kowarski syndrome, 262650 (3)
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| * 612958 TRANSLATIONAL ACTIVATOR OF MITOCHONDRIALLY ENCODED CYTOCHROME c
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| {Myocardial infarction, susceptibility to} (3)
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| {Alzheimer disease, susceptibility to}, 104300 (3)
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| {Microvascular complications of diabetes 3}, 612624 (3)
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| [Angiotensin I-converting enzyme, benign serum increase] (3)
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