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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 |
|---|---|---|---|---|---|
| C2711227 | Steatohepatitis | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C2711227 | Steatohepatitis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C2711227 | Steatohepatitis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0038220 | Status Epilepticus | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0038220 | Status Epilepticus | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C0038220 | Status Epilepticus | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0038220 | Status Epilepticus | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0038220 | Status Epilepticus | GALC | 2581 | galactosylceramidase | P54803 |
| C0038220 | Status Epilepticus | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0038220 | Status Epilepticus | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0038220 | Status Epilepticus | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0038220 | Status Epilepticus | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0038220 | Status Epilepticus | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0038220 | Status Epilepticus | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0038220 | Status Epilepticus | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0038220 | Status Epilepticus | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0038220 | Status Epilepticus | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0038220 | Status Epilepticus | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0038220 | Status Epilepticus | ACAN | 176 | aggrecan | P16112 |
| C0038220 | Status Epilepticus | FH | 2271 | fumarate hydratase | P07954 |
| C0038220 | Status Epilepticus | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0038220 | Status Epilepticus | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0038220 | Status Epilepticus | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0038220 | Status Epilepticus | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0038220 | Status Epilepticus | TMED9 | 54732 | transmembrane p24 trafficking protein 9 | Q9BVK6 |
