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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 ▼ |
|---|---|---|---|---|---|
| C0042384 | Vasculitis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C2239176 | Liver carcinoma | UAP1 | 6675 | UDP-N-acetylglucosamine pyrophosphorylase 1 | Q16222 |
| C1535939 | Pneumocystis jiroveci pneumonia | UAP1 | 6675 | UDP-N-acetylglucosamine pyrophosphorylase 1 | Q16222 |
| C0023903 | Liver neoplasms | UAP1 | 6675 | UDP-N-acetylglucosamine pyrophosphorylase 1 | Q16222 |
| C0019163 | Hepatitis B | UAP1 | 6675 | UDP-N-acetylglucosamine pyrophosphorylase 1 | Q16222 |
| C0041296 | Tuberculosis | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C2711227 | Steatohepatitis | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0023530 | Leukopenia | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0024301 | Lymphoma, Follicular | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0020490 | Hyperopia | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0023895 | Liver diseases | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0010495 | Cutis Laxa | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0027651 | Neoplasms | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0282577 | Congenital Disorders of Glycosylation | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0267963 | Exocrine pancreatic insufficiency | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0015695 | Fatty Liver | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0027651 | Neoplasms | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0006826 | Malignant Neoplasms | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0020757 | Ichthyoses | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0025958 | Microcephaly | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0033860 | Psoriasis | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0028754 | Obesity | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0013336 | Dwarfism | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
