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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 |
|---|---|---|---|---|---|
| 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 |
| C0017924 | Glycogen Storage Disease Type V | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0003868 | Arthritis, Gouty | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C1565489 | Renal Insufficiency | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0025267 | Multiple Endocrine Neoplasia Type 1 | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C1168401 | Squamous cell carcinoma of the head and neck | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0027651 | Neoplasms | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0017919 | Glycogen Storage Disease | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0339510 | Vitelliform Macular Dystrophy | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0009917 | Contracture | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C1533847 | Disorder of skeletal muscle | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0025202 | melanoma | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0678222 | Breast Carcinoma | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0023798 | Lipoma | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| 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 |
