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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 |
|---|---|---|---|---|---|
| C0039685 | Tetralogy of Fallot | GPC5 | 2262 | glypican 5 | P78333 |
| C0039685 | Tetralogy of Fallot | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0039685 | Tetralogy of Fallot | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0039685 | Tetralogy of Fallot | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C1336733 | Thalamic Neoplasm | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0039730 | Thalassemia | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0039730 | Thalassemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0039730 | Thalassemia | PC | 5091 | pyruvate carboxylase | P11498 |
| C0039730 | Thalassemia | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| 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 |
| 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 |
