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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 |
|---|---|---|---|---|---|
| C0013370 | Amebic colitis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0013370 | Amebic colitis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0013370 | Amebic colitis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0013370 | Amebic colitis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0013369 | Dysentery | LCT | 3938 | lactase | P09848 |
| C0013366 | Dyschondroplasias | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0013366 | Dyschondroplasias | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0013366 | Dyschondroplasias | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0013366 | Dyschondroplasias | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0013364 | Dysautonomia, Familial | GLA | 2717 | galactosidase alpha | P06280 |
| C0013364 | Dysautonomia, Familial | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0013364 | Dysautonomia, Familial | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0013364 | Dysautonomia, Familial | HMGCS2 | 3158 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | P54868 |
| C0013338 | Pituitary dwarfism | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0013338 | Pituitary dwarfism | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0013336 | Dwarfism | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0013336 | Dwarfism | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0013336 | Dwarfism | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0013336 | Dwarfism | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0013336 | Dwarfism | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0013336 | Dwarfism | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0013336 | Dwarfism | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C0013336 | Dwarfism | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C0013336 | Dwarfism | MGAT2 | 4247 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Q10469 |
| C0013336 | Dwarfism | SLC35C1 | 55343 | solute carrier family 35 member C1 | Q96A29 |
