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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 |
|---|---|---|---|---|---|
| C2936739 | Hyper-Immunoglobulin E Syndrome, Autosomal Dominant | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0085110 | Severe Combined Immunodeficiency | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0024299 | Lymphoma | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0282577 | Congenital Disorders of Glycosylation | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0010674 | Cystic Fibrosis | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0017168 | Gastroesophageal reflux disease | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0243026 | Sepsis | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0004096 | Asthma | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0017662 | Glomerulonephritis, Membranoproliferative | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0030312 | Pancytopenia | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0037299 | Skin Ulcer | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0006267 | Bronchiectasis | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0011615 | Dermatitis, Atopic | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C1868683 | B-CELL MALIGNANCY, LOW-GRADE | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0027947 | Neutropenia | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0014457 | Eosinophilia | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0041834 | Erythema | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0432242 | Desbuquois syndrome | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0006142 | Malignant neoplasm of breast | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0442874 | Neuropathy | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0036439 | Scoliosis, unspecified | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0271441 | Chronic otitis media | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0149516 | Chronic sinusitis | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C3714756 | Intellectual Disability | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0014868 | Esophagitis | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
