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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 |
|---|---|---|---|---|---|
| C0038436 | Post-Traumatic Stress Disorder | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0008312 | Primary biliary cirrhosis | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0007124 | Noninfiltrating Intraductal Carcinoma | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0006826 | Malignant Neoplasms | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0036857 | Severe intellectual disability | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0006114 | Cerebral Edema | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0030305 | Pancreatitis | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0023892 | Biliary cirrhosis | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0013146 | Drug abuse | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0241910 | Autoimmune Chronic Hepatitis | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C3714756 | Intellectual Disability | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0017636 | Glioblastoma | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0017638 | Glioma | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0036572 | Seizures | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0393593 | Dystonia Disorders | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0006142 | Malignant neoplasm of breast | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0268569 | Intermittent Maple Syrup Urine Disease | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0085136 | Central Nervous System Neoplasms | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0268568 | Classic Maple Syrup Urine Disease | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0013473 | Eating Disorders | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0020615 | Hypoglycemia | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PHOSPHO1 | 162466 | phosphoethanolamine/phosphocholine phosphatase 1 | Q8TCT1 |
| C0029442 | Osteomalacia | PHOSPHO1 | 162466 | phosphoethanolamine/phosphocholine phosphatase 1 | Q8TCT1 |
| C3887650 | Adult Rickets | PHOSPHO1 | 162466 | phosphoethanolamine/phosphocholine phosphatase 1 | Q8TCT1 |
| C1306459 | Primary malignant neoplasm | MDGA2 | 161357 | MAM domain containing glycosylphosphatidylinositol anchor 2 | Q7Z553 |
