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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 | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0014544 | Epilepsy | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0014544 | Epilepsy | PIGH | 5283 | phosphatidylinositol glycan anchor biosynthesis class H | Q14442 |
| C0014544 | Epilepsy | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0014544 | Epilepsy | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0014544 | Epilepsy | GLO1 | 2739 | glyoxalase I | Q04760 |
| C0014544 | Epilepsy | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0014544 | Epilepsy | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0014544 | Epilepsy | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0014544 | Epilepsy | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0014544 | Epilepsy | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0014544 | Epilepsy | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C0014544 | Epilepsy | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0014544 | Epilepsy | CLC | 1178 | Charcot-Leyden crystal galectin | Q05315 |
| C0014544 | Epilepsy | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0014544 | Epilepsy | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0014544 | Epilepsy | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0014544 | Epilepsy | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0014544 | Epilepsy | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0014544 | Epilepsy | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0014544 | Epilepsy | SLC35G1 | 159371 | solute carrier family 35 member G1 | Q2M3R5 |
| C0014544 | Epilepsy | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0014544 | Epilepsy | SLC35F1 | 222553 | solute carrier family 35 member F1 | Q5T1Q4 |
| C0014544 | Epilepsy | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0014544 | Epilepsy | ALOX15 | 246 | arachidonate 15-lipoxygenase | P16050 |
