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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 | 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 |
| C0014544 | Epilepsy | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0014544 | Epilepsy | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0014544 | Epilepsy | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0014544 | Epilepsy | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C0014544 | Epilepsy | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0014544 | Epilepsy | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
| C0014544 | Epilepsy | UGT1A3 | 54659 | UDP glucuronosyltransferase family 1 member A3 | P35503 |
