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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 | 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 |
| C0014547 | Epilepsies, Partial | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0014547 | Epilepsies, Partial | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0014547 | Epilepsies, Partial | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0014547 | Epilepsies, Partial | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0014547 | Epilepsies, Partial | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0014534 | Epididymitis | UNG | 7374 | uracil DNA glycosylase | P13051 |
| C1856934 | Epidermolysis bullosa with pyloric atresia | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0079298 | Epidermolysis Bullosa Simplex | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
