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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 ▲ |
|---|---|---|---|---|---|
| C0017920 | Glycogen Storage Disease Type I | PYGL | 5836 | glycogen phosphorylase L | P06737 |
| C0020615 | Hypoglycemia | PYGL | 5836 | glycogen phosphorylase L | P06737 |
| C0017924 | Glycogen Storage Disease Type V | PYGL | 5836 | glycogen phosphorylase L | P06737 |
| C0013336 | Dwarfism | PYGL | 5836 | glycogen phosphorylase L | P06737 |
| C0029438 | Massive Osteolyses | PYGL | 5836 | glycogen phosphorylase L | P06737 |
| C0017922 | Glycogen Storage Disease Type III | PYGL | 5836 | glycogen phosphorylase L | P06737 |
| C0678222 | Breast Carcinoma | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0027651 | Neoplasms | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0162323 | Polyarthritis | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0003873 | Rheumatoid Arthritis | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0027051 | Myocardial Infarction | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0021051 | Immunologic Deficiency Syndromes | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C1332206 | Adult Lymphoma | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0003864 | Arthritis | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0004153 | Atherosclerosis | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C3150730 | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0025500 | Mesothelioma | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C2239176 | Liver carcinoma | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C1306459 | Primary malignant neoplasm | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C1280798 | Von Willebrand disease, platelet type | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0042025 | Urinary Stress Incontinence | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0242379 | Malignant neoplasm of lung | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0024138 | Lupus Erythematosus, Discoid | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0017154 | Gastritis, Atrophic | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0009402 | Colorectal Carcinoma | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
