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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 |
|---|---|---|---|---|---|
| C0023267 | Fibroid Tumor | EDEM2 | 55741 | ER degradation enhancing alpha-mannosidase like protein 2 | Q9BV94 |
| C0036341 | Schizophrenia | EDEM2 | 55741 | ER degradation enhancing alpha-mannosidase like protein 2 | Q9BV94 |
| C0025202 | melanoma | EDEM1 | 9695 | ER degradation enhancing alpha-mannosidase like protein 1 | Q92611 |
| C1269683 | Major Depressive Disorder | EDEM1 | 9695 | ER degradation enhancing alpha-mannosidase like protein 1 | Q92611 |
| C0019196 | Hepatitis C | EDEM1 | 9695 | ER degradation enhancing alpha-mannosidase like protein 1 | Q92611 |
| C0041696 | Unipolar Depression | EDEM1 | 9695 | ER degradation enhancing alpha-mannosidase like protein 1 | Q92611 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | ECI2 | 10455 | enoyl-CoA delta isomerase 2 | O75521 |
| C0600139 | Prostate carcinoma | ECI2 | 10455 | enoyl-CoA delta isomerase 2 | O75521 |
| C0376358 | Malignant neoplasm of prostate | ECI2 | 10455 | enoyl-CoA delta isomerase 2 | O75521 |
| C0002874 | Aplastic Anemia | ECI2 | 10455 | enoyl-CoA delta isomerase 2 | O75521 |
| C0271907 | Acquired aplastic anemia | ECI2 | 10455 | enoyl-CoA delta isomerase 2 | O75521 |
| 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 |
| C0036572 | Seizures | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0007194 | Hypertrophic Cardiomyopathy | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0001125 | Acidosis, Lactic | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0024623 | Malignant neoplasm of stomach | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0013421 | Dystonia | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0018784 | Sensorineural Hearing Loss (disorder) | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
