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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 |
|---|---|---|---|---|---|
| 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 |
| C0677659 | Gastro-esophageal reflux disease with esophagitis | ECI1 | 1632 | enoyl-CoA delta isomerase 1 | P42126 |
| C0014869 | Peptic Esophagitis | ECI1 | 1632 | enoyl-CoA delta isomerase 1 | P42126 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | ECI1 | 1632 | enoyl-CoA delta isomerase 1 | P42126 |
| C0017168 | Gastroesophageal reflux disease | ECI1 | 1632 | enoyl-CoA delta isomerase 1 | P42126 |
| C0007124 | Noninfiltrating Intraductal Carcinoma | ECI1 | 1632 | enoyl-CoA delta isomerase 1 | P42126 |
| C0014848 | Esophageal Achalasia | ECI1 | 1632 | enoyl-CoA delta isomerase 1 | P42126 |
| C1321756 | Achalasia | ECI1 | 1632 | enoyl-CoA delta isomerase 1 | P42126 |
| C3489393 | Hiatal Hernia | ECI1 | 1632 | enoyl-CoA delta isomerase 1 | P42126 |
| C2748502 | CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS | DCN | 1634 | decorin | P07585 |
| C0546837 | Malignant neoplasm of esophagus | DCN | 1634 | decorin | P07585 |
| C0030567 | Parkinson Disease | DCN | 1634 | decorin | P07585 |
| C0085109 | Corneal Neovascularization | DCN | 1634 | decorin | P07585 |
| C0151514 | Atrophic condition of skin | DCN | 1634 | decorin | P07585 |
| C0007107 | Malignant neoplasm of larynx | DCN | 1634 | decorin | P07585 |
| C0238288 | Muscular Dystrophy, Facioscapulohumeral | DCN | 1634 | decorin | P07585 |
| C0024198 | Lyme Disease | DCN | 1634 | decorin | P07585 |
| C0021841 | Intestinal Neoplasms | DCN | 1634 | decorin | P07585 |
