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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 |
|---|---|---|---|---|---|
| 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 |
| C0003873 | Rheumatoid Arthritis | LY6G6D | 58530 | lymphocyte antigen 6 family member G6D | O95868 |
| C0011854 | Diabetes Mellitus, Insulin-Dependent | LY6G6D | 58530 | lymphocyte antigen 6 family member G6D | O95868 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | LY6G6D | 58530 | lymphocyte antigen 6 family member G6D | O95868 |
| C0019829 | Hodgkin Disease | LY6G6D | 58530 | lymphocyte antigen 6 family member G6D | O95868 |
| C0009402 | Colorectal Carcinoma | LY6G6D | 58530 | lymphocyte antigen 6 family member G6D | O95868 |
| C0007134 | Renal Cell Carcinoma | LY6G6D | 58530 | lymphocyte antigen 6 family member G6D | O95868 |
| C0079731 | B-Cell Lymphomas | LY6G6D | 58530 | lymphocyte antigen 6 family member G6D | O95868 |
| C0024776 | Maple Syrup Urine Disease | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0006114 | Cerebral Edema | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0003864 | Arthritis | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0013371 | Shigella Infections | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0149896 | Primary gout | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0268569 | Intermittent Maple Syrup Urine Disease | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0038454 | Cerebrovascular accident | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0268568 | Classic Maple Syrup Urine Disease | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C2712871 | Gout attack | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0036572 | Seizures | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0030305 | Pancreatitis | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
