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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 |
|---|---|---|---|---|---|
| C0025268 | Multiple Endocrine Neoplasia Type 2a | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0025268 | Multiple Endocrine Neoplasia Type 2a | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0026760 | Multiple Epiphyseal Dysplasia | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0026760 | Multiple Epiphyseal Dysplasia | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0026760 | Multiple Epiphyseal Dysplasia | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0026760 | Multiple Epiphyseal Dysplasia | ACAN | 176 | aggrecan | P16112 |
| C0026760 | Multiple Epiphyseal Dysplasia | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0026760 | Multiple Epiphyseal Dysplasia | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0026764 | Multiple Myeloma | ST3GAL6 | 10402 | ST3 beta-galactoside alpha-2,3-sialyltransferase 6 | Q9Y274 |
| C0026764 | Multiple Myeloma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0026764 | Multiple Myeloma | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0026764 | Multiple Myeloma | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0026764 | Multiple Myeloma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0026764 | Multiple Myeloma | HAS1 | 3036 | hyaluronan synthase 1 | Q92839 |
| C0026764 | Multiple Myeloma | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C0026764 | Multiple Myeloma | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0026764 | Multiple Myeloma | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0026764 | Multiple Myeloma | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0026764 | Multiple Myeloma | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0026764 | Multiple Myeloma | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0026764 | Multiple Myeloma | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0026764 | Multiple Myeloma | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0026764 | Multiple Myeloma | PSAP | 5660 | prosaposin | P07602 |
| C0026764 | Multiple Myeloma | HPSE | 10855 | heparanase | Q9Y251 |
| C0026764 | Multiple Myeloma | OGA | 10724 | O-GlcNAcase | O60502 |
