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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 |
|---|---|---|---|---|---|
| C0007758 | Cerebellar Ataxia | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0152013 | Adenocarcinoma of lung (disorder) | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0040034 | Thrombocytopenia | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0271623 | Hypogonadotropic hypogonadism | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0020224 | Polyhydramnios | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0023895 | Liver diseases | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0016202 | Flatfoot | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0017612 | Glaucoma, Open-Angle | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0032290 | Aspiration Pneumonia | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C1837396 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C1832736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C4721453 | Peripheral Nervous System Diseases | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0878544 | Cardiomyopathies | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0027092 | Myopia | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0007789 | Cerebral Palsy | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0011849 | Diabetes Mellitus | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C1865145 | Congenital disorder of glycosylation type 1B | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0155299 | Coloboma of optic disc | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| 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 |
