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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 | 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 |
| C0014544 | Epilepsy | AMT | 275 | aminomethyltransferase | P48728 |
| C0014544 | Epilepsy | ACADS | 35 | acyl-CoA dehydrogenase short chain | P16219 |
| C0014544 | Epilepsy | ARSD | 414 | arylsulfatase D | P51689 |
| C0014544 | Epilepsy | ALDH6A1 | 4329 | aldehyde dehydrogenase 6 family member A1 | Q02252 |
| C0014544 | Epilepsy | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0014544 | Epilepsy | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0014544 | Epilepsy | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0014544 | Epilepsy | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0014544 | Epilepsy | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0014544 | Epilepsy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0014544 | Epilepsy | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0014544 | Epilepsy | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0014544 | Epilepsy | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C0014544 | Epilepsy | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0014544 | Epilepsy | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0014544 | Epilepsy | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0014544 | Epilepsy | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
| C0014534 | Epididymitis | UNG | 7374 | uracil DNA glycosylase | P13051 |
