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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 |
|---|---|---|---|---|---|
| C0587248 | Costello syndrome (disorder) | VCAN | 1462 | versican | P13611 |
| C0587248 | Costello syndrome (disorder) | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0587248 | Costello syndrome (disorder) | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0587248 | Costello syndrome (disorder) | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0587248 | Costello syndrome (disorder) | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1291245 | Cortisone reductase deficiency | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C1291245 | Cortisone reductase deficiency | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C1291245 | Cortisone reductase deficiency | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0339578 | Corticosteroid-induced glaucoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0020497 | Cortical Congenital Hyperostosis | A4GALT | 53947 | alpha 1,4-galactosyltransferase (P blood group) | Q9NPC4 |
| C0795950 | Corpus callosum agenesis neuronopathy | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C1409792 | Coronary sinus defect | ARSD | 414 | arylsulfatase D | P51689 |
| C0010068 | Coronary heart disease | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0010068 | Coronary heart disease | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C0010068 | Coronary heart disease | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0010068 | Coronary heart disease | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0010068 | Coronary heart disease | GALNT2 | 2590 | polypeptide N-acetylgalactosaminyltransferase 2 | Q10471 |
| C0010068 | Coronary heart disease | B4GALT1 | 2683 | beta-1,4-galactosyltransferase 1 | P15291 |
| C0010068 | Coronary heart disease | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0010068 | Coronary heart disease | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C0010068 | Coronary heart disease | GALNT7 | 51809 | polypeptide N-acetylgalactosaminyltransferase 7 | Q86SF2 |
| C0010068 | Coronary heart disease | NDST4 | 64579 | N-deacetylase and N-sulfotransferase 4 | Q9H3R1 |
| C0010068 | Coronary heart disease | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0010068 | Coronary heart disease | GALNT4 | 8693 | polypeptide N-acetylgalactosaminyltransferase 4 | Q8N4A0 |
| C0010068 | Coronary heart disease | ST6GALNAC5 | 81849 | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 | Q9BVH7 |
