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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 |
|---|---|---|---|---|---|
| C0235974 | Pancreatic carcinoma | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0276535 | AIDS with Kaposi's sarcoma | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C1621920 | Intermediate Maple Syrup Urine Disease | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0006114 | Cerebral Edema | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0751285 | Maple Syrup Urine Disease, Thiamine Responsive | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| 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 |
| C0162429 | Malnutrition | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C0021390 | Inflammatory Bowel Diseases | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C0010346 | Crohn Disease | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C0030305 | Pancreatitis | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C0699790 | Colon Carcinoma | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C0007102 | Malignant tumor of colon | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C0009402 | Colorectal Carcinoma | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C0684249 | Carcinoma of lung | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C0242379 | Malignant neoplasm of lung | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C0027651 | Neoplasms | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C0007137 | Squamous cell carcinoma | REG1B | 5968 | regenerating family member 1 beta | P48304 |
