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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 ▲ |
|---|---|---|---|---|---|
| C0752124 | Spinocerebellar Ataxia Type 6 (disorder) | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0752125 | Spinocerebellar Ataxia Type 7 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C2711227 | Steatohepatitis | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0752120 | Spinocerebellar Ataxia Type 1 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0028754 | Obesity | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C1864446 | Retinitis Pigmentosa 25 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0752123 | Spinocerebellar Ataxia Type 5 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0752121 | Spinocerebellar Ataxia Type 2 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0752122 | Spinocerebellar Ataxia Type 4 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C1306459 | Primary malignant neoplasm | HAO2 | 51179 | hydroxyacid oxidase 2 | Q9NYQ3 |
| C0020500 | Hyperoxaluria | HAO2 | 51179 | hydroxyacid oxidase 2 | Q9NYQ3 |
| C2239176 | Liver carcinoma | HAO2 | 51179 | hydroxyacid oxidase 2 | Q9NYQ3 |
| C3888018 | Congenital Hyperinsulinism | HAO2 | 51179 | hydroxyacid oxidase 2 | Q9NYQ3 |
| C0008370 | Cholestasis | HAO2 | 51179 | hydroxyacid oxidase 2 | Q9NYQ3 |
| C0006826 | Malignant Neoplasms | HAO2 | 51179 | hydroxyacid oxidase 2 | Q9NYQ3 |
| C0020501 | Primary Hyperoxaluria | HAO2 | 51179 | hydroxyacid oxidase 2 | Q9NYQ3 |
| C0025521 | Inborn Errors of Metabolism | HAO2 | 51179 | hydroxyacid oxidase 2 | Q9NYQ3 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | HAO2 | 51179 | hydroxyacid oxidase 2 | Q9NYQ3 |
| C0006826 | Malignant Neoplasms | UGGT2 | 55757 | UDP-glucose glycoprotein glucosyltransferase 2 | Q9NYU1 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | UGGT2 | 55757 | UDP-glucose glycoprotein glucosyltransferase 2 | Q9NYU1 |
| C1306459 | Primary malignant neoplasm | UGGT2 | 55757 | UDP-glucose glycoprotein glucosyltransferase 2 | Q9NYU1 |
| C0027051 | Myocardial Infarction | UGGT2 | 55757 | UDP-glucose glycoprotein glucosyltransferase 2 | Q9NYU1 |
| C0006826 | Malignant Neoplasms | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0019196 | Hepatitis C | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0600139 | Prostate carcinoma | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
