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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 |
|---|---|---|---|---|---|
| C0476089 | Endometrial Carcinoma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0029408 | Degenerative polyarthritis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0270853 | Juvenile Myoclonic Epilepsy | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0017638 | Glioma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0543697 | Mixed cryoglobulinemia | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0036341 | Schizophrenia | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0262655 | Recurrent urinary tract infection | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0019163 | Hepatitis B | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0020445 | Hypercholesterolemia, Familial | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1301937 | Talipes | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0042580 | Vesico-Ureteral Reflux | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0410530 | Metachondromatosis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0152441 | Madelung Deformity | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0017665 | Membranous glomerulonephritis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0338451 | Frontotemporal dementia | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0006142 | Malignant neoplasm of breast | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0027543 | Avascular necrosis of bone | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0013336 | Dwarfism | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0042384 | Vasculitis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0036341 | Schizophrenia | ETNPPL | 64850 | ethanolamine-phosphate phospho-lyase | Q8TBG4 |
| C2711227 | Steatohepatitis | ETNPPL | 64850 | ethanolamine-phosphate phospho-lyase | Q8TBG4 |
| C0006012 | Borderline Personality Disorder | ETNPPL | 64850 | ethanolamine-phosphate phospho-lyase | Q8TBG4 |
| C0345904 | Malignant neoplasm of liver | ETNPPL | 64850 | ethanolamine-phosphate phospho-lyase | Q8TBG4 |
| C0027651 | Neoplasms | ETNPPL | 64850 | ethanolamine-phosphate phospho-lyase | Q8TBG4 |
| C2239176 | Liver carcinoma | ETNPPL | 64850 | ethanolamine-phosphate phospho-lyase | Q8TBG4 |
