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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 |
|---|---|---|---|---|---|
| C0023269 | leiomyosarcoma | FH | 2271 | fumarate hydratase | P07954 |
| C0023269 | leiomyosarcoma | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0023269 | leiomyosarcoma | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C0023269 | leiomyosarcoma | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0023269 | leiomyosarcoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0023269 | leiomyosarcoma | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0023269 | leiomyosarcoma | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0023269 | leiomyosarcoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0023269 | leiomyosarcoma | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0023269 | leiomyosarcoma | FASN | 2194 | fatty acid synthase | P49327 |
| C0023269 | leiomyosarcoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0023269 | leiomyosarcoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0023269 | leiomyosarcoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0023269 | leiomyosarcoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0022572 | keratoacanthoma | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0022572 | keratoacanthoma | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C0022572 | keratoacanthoma | SDC1 | 6382 | syndecan 1 | P18827 |
| C0022572 | keratoacanthoma | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0022572 | keratoacanthoma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0022572 | keratoacanthoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0022572 | keratoacanthoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0021670 | insulinoma | HK1 | 3098 | hexokinase 1 | P19367 |
| C0021670 | insulinoma | INPPL1 | 3636 | inositol polyphosphate phosphatase like 1 | O15357 |
| C0021670 | insulinoma | ACO2 | 50 | aconitase 2 | Q99798 |
| C0021670 | insulinoma | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
