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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 |
|---|---|---|---|---|---|
| C0007137 | Squamous cell carcinoma | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C0011849 | Diabetes Mellitus | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C0021831 | Intestinal Diseases | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C0011847 | Diabetes | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C0152013 | Adenocarcinoma of lung (disorder) | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C0011854 | Diabetes Mellitus, Insulin-Dependent | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C0024776 | Maple Syrup Urine Disease | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C2930990 | Maple syrup urine disease, type 1B | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0238461 | Anaplastic thyroid carcinoma | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0027651 | Neoplasms | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0346647 | Malignant neoplasm of pancreas | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0006826 | Malignant Neoplasms | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C1306459 | Primary malignant neoplasm | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C1970209 | Alzheimer Disease 12 | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0019163 | Hepatitis B | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0268568 | Classic Maple Syrup Urine Disease | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0025322 | Premature Menopause | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C3714756 | Intellectual Disability | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0007570 | Celiac Disease | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0085215 | Ovarian Failure, Premature | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| 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 |
