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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 |
|---|---|---|---|---|---|
| C0010495 | Cutis Laxa | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0282577 | Congenital Disorders of Glycosylation | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0026650 | Movement Disorders | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0025322 | Premature Menopause | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0042798 | Low Vision | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0836924 | Thrombocytosis | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0152025 | Polyneuropathy | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0014877 | Esotropia | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0038379 | Strabismus | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0022680 | Polycystic Kidney Diseases | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0037769 | West Syndrome | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0007760 | Cerebellar Diseases | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0011991 | Diarrhea | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0033687 | Proteinuria | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C4317295 | Congenital disorder of glycosylation type 1s | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0011882 | Diabetic Neuropathies | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0272375 | Antithrombin III Deficiency | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C1856251 | Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0003467 | Anxiety | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C3714756 | Intellectual Disability | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0235946 | Cerebral atrophy | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0559469 | Allergy to eggs | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0028968 | Olivopontocerebellar Atrophies | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C2711227 | Steatohepatitis | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0025521 | Inborn Errors of Metabolism | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
