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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 |
|---|---|---|---|---|---|
| C0039730 | Thalassemia | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0039730 | Thalassemia | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0039730 | Thalassemia | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0039730 | Thalassemia | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0039730 | Thalassemia | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0039730 | Thalassemia | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0039730 | Thalassemia | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
| C0039730 | Thalassemia | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0039730 | Thalassemia | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0039730 | Thalassemia | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0039730 | Thalassemia | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0039730 | Thalassemia | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0039730 | Thalassemia | NAAA | 27163 | N-acylethanolamine acid amidase | Q02083 |
| C1336733 | Thalamic Neoplasm | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0039685 | Tetralogy of Fallot | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0039685 | Tetralogy of Fallot | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0039685 | Tetralogy of Fallot | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C0039685 | Tetralogy of Fallot | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0039685 | Tetralogy of Fallot | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C0039685 | Tetralogy of Fallot | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0039685 | Tetralogy of Fallot | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0039685 | Tetralogy of Fallot | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0039685 | Tetralogy of Fallot | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0039685 | Tetralogy of Fallot | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C0039685 | Tetralogy of Fallot | CD48 | 962 | CD48 molecule | P09326 |
