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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 |
|---|---|---|---|---|---|
| C0024198 | Lyme Disease | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0677501 | Congenital Nephrogenic Diabetes Insipidus | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0017574 | Gingivitis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0085110 | Severe Combined Immunodeficiency | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0010606 | Adenoid Cystic Carcinoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0020179 | Huntington Disease | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0342637 | Hypocalciuric hypercalcemia, familial, type 1 | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0278595 | Adult Fibrosarcoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0035412 | Rhabdomyosarcoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0031762 | Photosensitivity Disorders | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0178664 | Glomerulosclerosis (disorder) | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0027092 | Myopia | PXYLP1 | 92370 | 2-phosphoxylose phosphatase 1 | Q8TE99 |
| 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 |
| C0007131 | Non-Small Cell Lung Carcinoma | PYGB | 5834 | glycogen phosphorylase B | P11216 |
| C0006142 | Malignant neoplasm of breast | PYGB | 5834 | glycogen phosphorylase B | P11216 |
| C0220636 | Malignant neoplasm of salivary gland | PYGB | 5834 | glycogen phosphorylase B | P11216 |
| C0006826 | Malignant Neoplasms | PYGB | 5834 | glycogen phosphorylase B | P11216 |
| C0010606 | Adenoid Cystic Carcinoma | PYGB | 5834 | glycogen phosphorylase B | P11216 |
| C0017925 | Glycogen Storage Disease Type VI | PYGL | 5836 | glycogen phosphorylase L | P06737 |
| C2239176 | Liver carcinoma | PYGL | 5836 | glycogen phosphorylase L | P06737 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | PYGL | 5836 | glycogen phosphorylase L | P06737 |
| C0017920 | Glycogen Storage Disease Type I | PYGL | 5836 | glycogen phosphorylase L | P06737 |
