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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name | Gene Symbol | Gene ID ▼ | Gene Name | UniProt ID |
---|---|---|---|---|---|
C1851585 | MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA | DCN | 1634 | decorin | P07585 |
C0022783 | Vulvar Lichen Sclerosus | DCN | 1634 | decorin | P07585 |
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 |
C0024776 | Maple Syrup Urine Disease | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
C0006012 | Borderline Personality Disorder | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
C1621920 | Intermediate Maple Syrup Urine Disease | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
C1306459 | Primary malignant neoplasm | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
C0018799 | Heart Diseases | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
C0013421 | Dystonia | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
C4048158 | Convulsions | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
C1449563 | Cardiomyopathy, Familial Idiopathic | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
C0001125 | Acidosis, Lactic | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
C0025202 | melanoma | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
C0751285 | Maple Syrup Urine Disease, Thiamine Responsive | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
C1855371 | MAPLE SYRUP URINE DISEASE, TYPE II | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
C1621958 | Glioblastoma Multiforme | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
C0278878 | Adult Glioblastoma | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
C0678222 | Breast Carcinoma | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
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Last updated: August 19, 2024