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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 |
|---|---|---|---|---|---|
| C1442903 | Exostoses | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C1442903 | Exostoses | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1442903 | Exostoses | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C1442903 | Exostoses | HPSE | 10855 | heparanase | Q9Y251 |
| C1442903 | Exostoses | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1442903 | Exostoses | DCN | 1634 | decorin | P07585 |
| C1442903 | Exostoses | ACAN | 176 | aggrecan | P16112 |
| C1442903 | Exostoses | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C1442903 | Exostoses | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0015300 | Exophthalmos | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0015300 | Exophthalmos | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0015300 | Exophthalmos | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0015300 | Exophthalmos | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0015300 | Exophthalmos | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C0015300 | Exophthalmos | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0015300 | Exophthalmos | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0015300 | Exophthalmos | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0015300 | Exophthalmos | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0015300 | Exophthalmos | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0267963 | Exocrine pancreatic insufficiency | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0267963 | Exocrine pancreatic insufficiency | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0267963 | Exocrine pancreatic insufficiency | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0267963 | Exocrine pancreatic insufficiency | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0267963 | Exocrine pancreatic insufficiency | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0267963 | Exocrine pancreatic insufficiency | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
