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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 |
|---|---|---|---|---|---|
| C1704356 | Enchondroma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1704356 | Enchondroma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C1704356 | Enchondroma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1704356 | Enchondroma | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C1704356 | Enchondroma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1704356 | Enchondroma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0751267 | Encephalopathy, Subacute Necrotizing, Infantile | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0751267 | Encephalopathy, Subacute Necrotizing, Infantile | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0085584 | Encephalopathies | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0085584 | Encephalopathies | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0085584 | Encephalopathies | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C0085584 | Encephalopathies | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0085584 | Encephalopathies | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0085584 | Encephalopathies | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0085584 | Encephalopathies | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0085584 | Encephalopathies | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C0085584 | Encephalopathies | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0085584 | Encephalopathies | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0085584 | Encephalopathies | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0085584 | Encephalopathies | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0085584 | Encephalopathies | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C0085584 | Encephalopathies | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0085584 | Encephalopathies | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0085584 | Encephalopathies | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0085584 | Encephalopathies | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
