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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 | 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 |
| C0014544 | Epilepsy | TIGAR | 57103 | TP53 induced glycolysis regulatory phosphatase | Q9NQ88 |
| C0014544 | Epilepsy | UGT2B7 | 7364 | UDP glucuronosyltransferase family 2 member B7 | P16662 |
| C0014544 | Epilepsy | UGT2B15 | 7366 | UDP glucuronosyltransferase family 2 member B15 | P54855 |
| C0014544 | Epilepsy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0014544 | Epilepsy | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0014544 | Epilepsy | KL | 9365 | klotho | Q9UEF7 |
| C0014544 | Epilepsy | CD38 | 952 | CD38 molecule | P28907 |
| C0014544 | Epilepsy | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0014544 | Epilepsy | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0014544 | Epilepsy | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0014544 | Epilepsy | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0014544 | Epilepsy | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0014544 | Epilepsy | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0014544 | Epilepsy | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C0014544 | Epilepsy | FOLR1 | 2348 | folate receptor alpha | P15328 |
| C0014544 | Epilepsy | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C0014544 | Epilepsy | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0014544 | Epilepsy | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0014544 | Epilepsy | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0014544 | Epilepsy | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
