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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 |
|---|---|---|---|---|---|
| C1304508 | Spindle cell hemangioma | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C1304508 | Spindle cell hemangioma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C1304508 | Spindle cell hemangioma | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C1304508 | Spindle cell hemangioma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1306214 | ACTH-Secreting Pituitary Adenoma | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C1306214 | ACTH-Secreting Pituitary Adenoma | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C1306341 | Mental handicap | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C1306459 | Primary malignant neoplasm | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C1306459 | Primary malignant neoplasm | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C1306459 | Primary malignant neoplasm | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C1306459 | Primary malignant neoplasm | MGAT4A | 11320 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A | Q9UM21 |
| C1306459 | Primary malignant neoplasm | MGAT4B | 11282 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B | Q9UQ53 |
| C1306459 | Primary malignant neoplasm | FUT9 | 10690 | fucosyltransferase 9 | Q9Y231 |
| C1306459 | Primary malignant neoplasm | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C1306459 | Primary malignant neoplasm | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C1306459 | Primary malignant neoplasm | LARGE2 | 120071 | LARGE xylosyl- and glucuronyltransferase 2 | Q8N3Y3 |
| C1306459 | Primary malignant neoplasm | B3GNT3 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | Q9Y2A9 |
| C1306459 | Primary malignant neoplasm | GALNT5 | 11227 | polypeptide N-acetylgalactosaminyltransferase 5 | Q7Z7M9 |
| C1306459 | Primary malignant neoplasm | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C1306459 | Primary malignant neoplasm | ST6GALNAC2 | 10610 | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 | Q9UJ37 |
| C1306459 | Primary malignant neoplasm | B3GNT6 | 192134 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 | Q6ZMB0 |
| C1306459 | Primary malignant neoplasm | FKTN | 2218 | fukutin | O75072 |
| C1306459 | Primary malignant neoplasm | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1306459 | Primary malignant neoplasm | EXTL1 | 2134 | exostosin like glycosyltransferase 1 | Q92935 |
| C1306459 | Primary malignant neoplasm | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
