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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 ▲ |
|---|---|---|---|---|---|
| C0017923 | Glycogen Storage Disease Type IV | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0013604 | Edema | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0017919 | Glycogen Storage Disease | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1856301 | GSD IV, Classic Hepatic | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1306459 | Primary malignant neoplasm | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0079731 | B-Cell Lymphomas | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0032708 | Disorders of Porphyrin Metabolism | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0795956 | Chylomicron retention disease | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0684249 | Carcinoma of lung | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0393819 | Polyradiculoneuropathy, Chronic Inflammatory Demyelinating | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0029438 | Massive Osteolyses | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0026769 | Multiple Sclerosis | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0242379 | Malignant neoplasm of lung | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1854678 | MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0020224 | Polyhydramnios | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0919267 | ovarian neoplasm | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0342790 | Carnitine palmitoyl transferase 2 deficiency | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1276035 | Pena-Shokeir syndrome type I | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0023520 | Leukodystrophy | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0497327 | Dementia | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0037299 | Skin Ulcer | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0270790 | Quadriparesis | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0025517 | Metabolic Diseases | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0270960 | Congenital myopathy (disorder) | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0265261 | Multiple pterygium syndrome | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
