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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 |
|---|---|---|---|---|---|
| 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 |
| C0006111 | Brain Diseases | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0027868 | Neuromuscular Diseases | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0010417 | Cryptorchidism | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1531647 | Cerebral ventriculomegaly | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0036857 | Severe intellectual disability | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0036572 | Seizures | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0036439 | Scoliosis, unspecified | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C3150416 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0266551 | Congenital coloboma of iris | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0035334 | Retinitis Pigmentosa | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0086543 | Cataract | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0025958 | Microcephaly | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
