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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 |
|---|---|---|---|---|---|
| C0011195 | Dejerine-Sottas Disease (disorder) | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C0011195 | Dejerine-Sottas Disease (disorder) | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0011195 | Dejerine-Sottas Disease (disorder) | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0029408 | Degenerative polyarthritis | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0029408 | Degenerative polyarthritis | CHST13 | 166012 | carbohydrate sulfotransferase 13 | Q8NET6 |
| C0029408 | Degenerative polyarthritis | CHST4 | 10164 | carbohydrate sulfotransferase 4 | Q8NCG5 |
| C0029408 | Degenerative polyarthritis | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0029408 | Degenerative polyarthritis | UST | 10090 | uronyl 2-sulfotransferase | Q9Y2C2 |
| C0029408 | Degenerative polyarthritis | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0029408 | Degenerative polyarthritis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0029408 | Degenerative polyarthritis | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0029408 | Degenerative polyarthritis | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0029408 | Degenerative polyarthritis | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0029408 | Degenerative polyarthritis | HAS1 | 3036 | hyaluronan synthase 1 | Q92839 |
| C0029408 | Degenerative polyarthritis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0029408 | Degenerative polyarthritis | B4GALNT3 | 283358 | beta-1,4-N-acetyl-galactosaminyltransferase 3 | Q6L9W6 |
| C0029408 | Degenerative polyarthritis | CHST11 | 50515 | carbohydrate sulfotransferase 11 | Q9NPF2 |
| C0029408 | Degenerative polyarthritis | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0029408 | Degenerative polyarthritis | HS6ST2 | 90161 | heparan sulfate 6-O-sulfotransferase 2 | Q96MM7 |
| C0029408 | Degenerative polyarthritis | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0029408 | Degenerative polyarthritis | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
| C0029408 | Degenerative polyarthritis | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0029408 | Degenerative polyarthritis | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0029408 | Degenerative polyarthritis | GLA | 2717 | galactosidase alpha | P06280 |
| C0029408 | Degenerative polyarthritis | GLB1 | 2720 | galactosidase beta 1 | P16278 |
