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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 | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0239946 | Fibrosis, Liver | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0036572 | Seizures | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0235833 | Congenital diaphragmatic hernia | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C1306459 | Primary malignant neoplasm | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0338484 | Familial Hemiplegic Migraine | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0025958 | Microcephaly | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0086543 | Cataract | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0029456 | Osteoporosis | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0023467 | Leukemia, Myelocytic, Acute | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0028738 | Nystagmus | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0007194 | Hypertrophic Cardiomyopathy | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0023529 | Leukomalacia, Periventricular | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C1832884 | Hemiplegic migraine, familial type 1 | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0035334 | Retinitis Pigmentosa | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0009402 | Colorectal Carcinoma | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0007222 | Cardiovascular Diseases | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0025362 | Mental Retardation | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0023787 | Lipodystrophy | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0020459 | Hyperinsulinism | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0031039 | Pericardial effusion | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0009404 | Colorectal Neoplasms | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0027651 | Neoplasms | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0000768 | Congenital Abnormality | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0085215 | Ovarian Failure, Premature | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
