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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 |
|---|---|---|---|---|---|
| C0002312 | alpha-Thalassemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0002312 | alpha-Thalassemia | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0002312 | alpha-Thalassemia | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0002312 | alpha-Thalassemia | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0002312 | alpha-Thalassemia | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0002312 | alpha-Thalassemia | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0002312 | alpha-Thalassemia | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0002312 | alpha-Thalassemia | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0002312 | alpha-Thalassemia | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0002312 | alpha-Thalassemia | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0002312 | alpha-Thalassemia | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0002390 | Extrinsic allergic alveolitis | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0002390 | Extrinsic allergic alveolitis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0002390 | Extrinsic allergic alveolitis | LGALS9 | 3965 | galectin 9 | O00182 |
| C0002390 | Extrinsic allergic alveolitis | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C0002390 | Extrinsic allergic alveolitis | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0002390 | Extrinsic allergic alveolitis | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C0002395 | Alzheimer's Disease | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0002395 | Alzheimer's Disease | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0002395 | Alzheimer's Disease | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0002395 | Alzheimer's Disease | HAS1 | 3036 | hyaluronan synthase 1 | Q92839 |
| C0002395 | Alzheimer's Disease | MGAT3 | 4248 | beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase | Q09327 |
| C0002395 | Alzheimer's Disease | HAS3 | 3038 | hyaluronan synthase 3 | O00219 |
| C0002395 | Alzheimer's Disease | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
| C0002395 | Alzheimer's Disease | ST8SIA1 | 6489 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 | Q92185 |
