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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 ▼ |
|---|---|---|---|---|---|
| C0025517 | Metabolic Diseases | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0003486 | Aortic Aneurysm | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0917713 | Becker Muscular Dystrophy | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0016719 | Friedreich Ataxia | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0035232 | Respiratory Paralysis | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0678222 | Breast Carcinoma | SRGN | 5552 | serglycin | P10124 |
| C0010054 | Coronary Arteriosclerosis | SRGN | 5552 | serglycin | P10124 |
| C0006826 | Malignant Neoplasms | SRGN | 5552 | serglycin | P10124 |
| C0023467 | Leukemia, Myelocytic, Acute | SRGN | 5552 | serglycin | P10124 |
| C0271650 | Impaired glucose tolerance | SRGN | 5552 | serglycin | P10124 |
| C0017636 | Glioblastoma | SRGN | 5552 | serglycin | P10124 |
| C0085110 | Severe Combined Immunodeficiency | SRGN | 5552 | serglycin | P10124 |
| C0684249 | Carcinoma of lung | SRGN | 5552 | serglycin | P10124 |
| C0029408 | Degenerative polyarthritis | SRGN | 5552 | serglycin | P10124 |
| C0158266 | Intervertebral Disc Degeneration | SRGN | 5552 | serglycin | P10124 |
| C0021364 | Male infertility | SRGN | 5552 | serglycin | P10124 |
| C0027651 | Neoplasms | SRGN | 5552 | serglycin | P10124 |
| C0003864 | Arthritis | SRGN | 5552 | serglycin | P10124 |
| C0019270 | Hernia | SRGN | 5552 | serglycin | P10124 |
| C0011334 | Dental caries | SRGN | 5552 | serglycin | P10124 |
| C0028960 | Oligospermia | SRGN | 5552 | serglycin | P10124 |
| C0024138 | Lupus Erythematosus, Discoid | SRGN | 5552 | serglycin | P10124 |
| C0011633 | Dermatomyositis | SRGN | 5552 | serglycin | P10124 |
| C0006142 | Malignant neoplasm of breast | SRGN | 5552 | serglycin | P10124 |
| C1306459 | Primary malignant neoplasm | SRGN | 5552 | serglycin | P10124 |
