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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 |
|---|---|---|---|---|---|
| C0878675 | Erdheim-Chester Disease | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0878675 | Erdheim-Chester Disease | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0878675 | Erdheim-Chester Disease | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1368683 | Epithelioma | HAS1 | 3036 | hyaluronan synthase 1 | Q92839 |
| C1368683 | Epithelioma | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C1368683 | Epithelioma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1368683 | Epithelioma | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C1368683 | Epithelioma | SDC1 | 6382 | syndecan 1 | P18827 |
| C1368683 | Epithelioma | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C1368683 | Epithelioma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C1368683 | Epithelioma | KLRK1 | 22914 | killer cell lectin like receptor K1 | P26718 |
| C1368683 | Epithelioma | LYPD5 | 284348 | LY6/PLAUR domain containing 5 | Q6UWN5 |
| C1368683 | Epithelioma | LGALS1 | 3956 | galectin 1 | P09382 |
| C1368683 | Epithelioma | ACSL5 | 51703 | acyl-CoA synthetase long chain family member 5 | Q9ULC5 |
| C1368683 | Epithelioma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1368683 | Epithelioma | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C1368683 | Epithelioma | CAT | 847 | catalase | P04040 |
| C1368683 | Epithelioma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1368683 | Epithelioma | CD74 | 972 | CD74 molecule | P04233 |
| C1368683 | Epithelioma | GPC3 | 2719 | glypican 3 | P51654 |
| C1368683 | Epithelioma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1368683 | Epithelioma | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C1368683 | Epithelioma | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C1368683 | Epithelioma | FASN | 2194 | fatty acid synthase | P49327 |
| C1368683 | Epithelioma | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
