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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 |
|---|---|---|---|---|---|
| C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | HSD17B1 | 3292 | hydroxysteroid 17-beta dehydrogenase 1 | P14061 |
| C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
| C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | DHRS11 | 79154 | dehydrogenase/reductase 11 | Q6UWP2 |
| C0677865 | Brain Stem Glioma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0677865 | Brain Stem Glioma | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0677865 | Brain Stem Glioma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0677865 | Brain Stem Glioma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0677886 | Epithelial ovarian cancer | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C0677886 | Epithelial ovarian cancer | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0677886 | Epithelial ovarian cancer | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0677886 | Epithelial ovarian cancer | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0677886 | Epithelial ovarian cancer | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0677886 | Epithelial ovarian cancer | GALNT1 | 2589 | polypeptide N-acetylgalactosaminyltransferase 1 | Q10472 |
| C0677886 | Epithelial ovarian cancer | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C0677886 | Epithelial ovarian cancer | ST3GAL1 | 6482 | ST3 beta-galactoside alpha-2,3-sialyltransferase 1 | Q11201 |
| C0677886 | Epithelial ovarian cancer | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0677886 | Epithelial ovarian cancer | GALNT14 | 79623 | polypeptide N-acetylgalactosaminyltransferase 14 | Q96FL9 |
| C0677886 | Epithelial ovarian cancer | HS3ST2 | 9956 | heparan sulfate-glucosamine 3-sulfotransferase 2 | Q9Y278 |
| C0677886 | Epithelial ovarian cancer | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0677886 | Epithelial ovarian cancer | GCNT3 | 9245 | glucosaminyl (N-acetyl) transferase 3, mucin type | O95395 |
| C0677886 | Epithelial ovarian cancer | IDS | 3423 | iduronate 2-sulfatase | P22304 |
