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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 | 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 |
| C2711227 | Steatohepatitis | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C2711227 | Steatohepatitis | HAS3 | 3038 | hyaluronan synthase 3 | O00219 |
| C2711227 | Steatohepatitis | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C2711227 | Steatohepatitis | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
| C2711227 | Steatohepatitis | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C2711227 | Steatohepatitis | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C2711227 | Steatohepatitis | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C2711227 | Steatohepatitis | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
| C2711227 | Steatohepatitis | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C2711227 | Steatohepatitis | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
