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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 |
|---|---|---|---|---|---|
| C0271844 | Parathyroid hyperplasia | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0271844 | Parathyroid hyperplasia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0271907 | Acquired aplastic anemia | ECI2 | 10455 | enoyl-CoA delta isomerase 2 | O75521 |
| C0271907 | Acquired aplastic anemia | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0271907 | Acquired aplastic anemia | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0271907 | Acquired aplastic anemia | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0271907 | Acquired aplastic anemia | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0271907 | Acquired aplastic anemia | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0271907 | Acquired aplastic anemia | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0271907 | Acquired aplastic anemia | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0271907 | Acquired aplastic anemia | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0271907 | Acquired aplastic anemia | DGKZ | 8525 | diacylglycerol kinase zeta | Q13574 |
| C0271979 | Thalassemia Intermedia | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0271979 | Thalassemia Intermedia | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0271979 | Thalassemia Intermedia | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0271979 | Thalassemia Intermedia | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0271979 | Thalassemia Intermedia | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0271979 | Thalassemia Intermedia | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0271979 | Thalassemia Intermedia | UGT1A5 | 54579 | UDP glucuronosyltransferase family 1 member A5 | P35504 |
| C0271979 | Thalassemia Intermedia | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0271979 | Thalassemia Intermedia | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
| C0271979 | Thalassemia Intermedia | UGT1A3 | 54659 | UDP glucuronosyltransferase family 1 member A3 | P35503 |
| C0271979 | Thalassemia Intermedia | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0271979 | Thalassemia Intermedia | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0271979 | Thalassemia Intermedia | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
