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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 ▼ |
|---|---|---|---|---|---|
| C0019562 | Von Hippel-Lindau Syndrome | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0018099 | Gout | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C1839615 | X-linked myopathy with excessive autophagy | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0017150 | Gastrinoma | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0026848 | Myopathy | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0029438 | Massive Osteolyses | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0007097 | Carcinoma | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C3489413 | Lipomatosis, Multiple | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0243026 | Sepsis | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0008370 | Cholestasis | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0025517 | Metabolic Diseases | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0206692 | Carcinoma, Lobular | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0006142 | Malignant neoplasm of breast | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0242363 | Islet Cell Tumor | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0017926 | Glycogen Storage Disease Type VII | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0241005 | Creatine phosphokinase serum increased | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0151744 | Myocardial Ischemia | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0032914 | Pre-Eclampsia | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0027080 | Myoglobinuria | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0155626 | Acute myocardial infarction | PYGB | 5834 | glycogen phosphorylase B | P11216 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PYGB | 5834 | glycogen phosphorylase B | P11216 |
| C0151744 | Myocardial Ischemia | PYGB | 5834 | glycogen phosphorylase B | P11216 |
| C1306459 | Primary malignant neoplasm | PYGB | 5834 | glycogen phosphorylase B | P11216 |
