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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 |
|---|---|---|---|---|---|
| C0015934 | Fetal Growth Retardation | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0009324 | Ulcerative Colitis | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C1855369 | Maple Syrup Urine Disease, Type IA | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0020615 | Hypoglycemia | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| 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 |
| 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 |
