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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 |
|---|---|---|---|---|---|
| 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 |
| C0014544 | Epilepsy | ST8SIA2 | 8128 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 | Q92186 |
| C0014544 | Epilepsy | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0014544 | Epilepsy | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0014544 | Epilepsy | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0014544 | Epilepsy | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0014544 | Epilepsy | ARSA | 410 | arylsulfatase A | P15289 |
| C0014544 | Epilepsy | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0014544 | Epilepsy | OGA | 10724 | O-GlcNAcase | O60502 |
| C0014544 | Epilepsy | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0014544 | Epilepsy | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0014544 | Epilepsy | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0014544 | Epilepsy | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0014544 | Epilepsy | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0014544 | Epilepsy | ENO2 | 2026 | enolase 2 | P09104 |
| C0014544 | Epilepsy | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0014544 | Epilepsy | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0014544 | Epilepsy | HK1 | 3098 | hexokinase 1 | P19367 |
| C0014544 | Epilepsy | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
