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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 |
|---|---|---|---|---|---|
| C0270857 | Epilepsy, Reflex | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0014548 | Epilepsy, Generalized | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0014548 | Epilepsy, Generalized | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0014548 | Epilepsy, Generalized | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0014548 | Epilepsy, Generalized | ME2 | 4200 | malic enzyme 2 | P23368 |
| C0014548 | Epilepsy, Generalized | SLC2A3 | 6515 | solute carrier family 2 member 3 | P11169 |
| C0014548 | Epilepsy, Generalized | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0014548 | Epilepsy, Generalized | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0014548 | Epilepsy, Generalized | GLDC | 2731 | glycine decarboxylase | P23378 |
| C0014548 | Epilepsy, Generalized | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0086237 | Epilepsy, Cryptogenic | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C0086237 | Epilepsy, Cryptogenic | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0086237 | Epilepsy, Cryptogenic | FOLR1 | 2348 | folate receptor alpha | P15328 |
| C0086237 | Epilepsy, Cryptogenic | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0014544 | Epilepsy | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0014544 | Epilepsy | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0014544 | Epilepsy | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0014544 | Epilepsy | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0014544 | Epilepsy | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
| C0014544 | Epilepsy | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C0014544 | Epilepsy | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0014544 | Epilepsy | MGAT1 | 4245 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | P26572 |
| C0014544 | Epilepsy | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C0014544 | Epilepsy | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C0014544 | Epilepsy | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
