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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 |
|---|---|---|---|---|---|
| C0038220 | Status Epilepticus | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0038220 | Status Epilepticus | CAT | 847 | catalase | P04040 |
| C0038220 | Status Epilepticus | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0038220 | Status Epilepticus | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0038220 | Status Epilepticus | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0038220 | Status Epilepticus | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0038220 | Status Epilepticus | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0038220 | Status Epilepticus | OGDH | 4967 | oxoglutarate dehydrogenase | Q02218 |
| C0038220 | Status Epilepticus | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0038220 | Status Epilepticus | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0038220 | Status Epilepticus | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0038220 | Status Epilepticus | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0038220 | Status Epilepticus | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0038220 | Status Epilepticus | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0038220 | Status Epilepticus | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0038220 | Status Epilepticus | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0038220 | Status Epilepticus | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0038220 | Status Epilepticus | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0038220 | Status Epilepticus | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C0038220 | Status Epilepticus | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0038220 | Status Epilepticus | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0038220 | Status Epilepticus | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0038218 | Status Asthmaticus | CD14 | 929 | CD14 molecule | P08571 |
| C0271093 | Stargardt's disease | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0271093 | Stargardt's disease | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
