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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 |
|---|---|---|---|---|---|
| C0265985 | Mongolian Spot | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C1854896 | Mucolipidosis III Gamma | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C1306459 | Primary malignant neoplasm | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0006826 | Malignant Neoplasms | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0029422 | Osteochondrodysplasias | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0282687 | Hemorrhagic Fever, Ebola | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0007194 | Hypertrophic Cardiomyopathy | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0035309 | Retinal Diseases | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0036310 | Scheuermann's Disease | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0037315 | Sleep Apnea Syndromes | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0035304 | Retinal Degeneration | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0010036 | Corneal dystrophy | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0018920 | Hemangioma, Cavernous | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0006142 | Malignant neoplasm of breast | HSD17B8 | 7923 | hydroxysteroid 17-beta dehydrogenase 8 | Q92506 |
| C0027651 | Neoplasms | HSD17B8 | 7923 | hydroxysteroid 17-beta dehydrogenase 8 | Q92506 |
| C0003873 | Rheumatoid Arthritis | HSD17B8 | 7923 | hydroxysteroid 17-beta dehydrogenase 8 | Q92506 |
| C1458155 | Mammary Neoplasms | HSD17B8 | 7923 | hydroxysteroid 17-beta dehydrogenase 8 | Q92506 |
| C0041296 | Tuberculosis | HSD17B8 | 7923 | hydroxysteroid 17-beta dehydrogenase 8 | Q92506 |
| C0019163 | Hepatitis B | HSD17B8 | 7923 | hydroxysteroid 17-beta dehydrogenase 8 | Q92506 |
| C0003850 | Arteriosclerosis | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0010054 | Coronary Arteriosclerosis | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C1956346 | Coronary Artery Disease | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0742343 | Acute Chest Syndrome | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0020445 | Hypercholesterolemia, Familial | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0917805 | Transient Cerebral Ischemia | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
