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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name | Gene Symbol ▲ | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0035304 | Retinal Degeneration | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0456909 | Blindness | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C3150415 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0038379 | Strabismus | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0699743 | Congenital muscular dystrophy (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0006118 | Brain Neoplasms | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C3714756 | Intellectual Disability | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0520947 | Clumsiness - motor delay | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0026850 | Muscular Dystrophy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C3536714 | Renal dysplasia | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C2751052 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0854723 | Retinal Dystrophies | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0027092 | Myopia | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0003466 | Anus, Imperforate | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0025362 | Mental Retardation | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0206157 | Myopathies, Nemaline | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C3150412 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1861922 | CAMPOMELIC DYSPLASIA | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0020255 | Hydrocephalus | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
