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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 |
|---|---|---|---|---|---|
| C0036572 | Seizures | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0036572 | Seizures | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0036572 | Seizures | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0036572 | Seizures | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0036572 | Seizures | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0036572 | Seizures | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
| C0036572 | Seizures | PC | 5091 | pyruvate carboxylase | P11498 |
| C0036572 | Seizures | ACO2 | 50 | aconitase 2 | Q99798 |
| C0036572 | Seizures | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0036572 | Seizures | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0036572 | Seizures | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0036572 | Seizures | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0036572 | Seizures | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0036572 | Seizures | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0036572 | Seizures | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0036572 | Seizures | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
| C0036572 | Seizures | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0036572 | Seizures | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0036572 | Seizures | UGT1A5 | 54579 | UDP glucuronosyltransferase family 1 member A5 | P35504 |
| C0036572 | Seizures | UGT1A3 | 54659 | UDP glucuronosyltransferase family 1 member A3 | P35503 |
| C0036572 | Seizures | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0036572 | Seizures | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C0036572 | Seizures | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0036572 | Seizures | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0036572 | Seizures | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
