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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 |
|---|---|---|---|---|---|
| C0024141 | Lupus Erythematosus, Systemic | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0030305 | Pancreatitis | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0036572 | Seizures | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C2239176 | Liver carcinoma | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0020615 | Hypoglycemia | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0001125 | Acidosis, Lactic | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0268569 | Intermittent Maple Syrup Urine Disease | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| 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 |
| C0001125 | Acidosis, Lactic | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C1857276 | Trichohepatoenteric Syndrome | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0751285 | Maple Syrup Urine Disease, Thiamine Responsive | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0010346 | Crohn Disease | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0243026 | Sepsis | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C1621920 | Intermediate Maple Syrup Urine Disease | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C3714756 | Intellectual Disability | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
