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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 |
|---|---|---|---|---|---|
| C0022573 | Keratoconjunctivitis | PLD3 | 23646 | phospholipase D family member 3 | Q8IV08 |
| 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 |
| C0022568 | Keratitis | ARSA | 410 | arylsulfatase A | P15289 |
| C0022568 | Keratitis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0022568 | Keratitis | CLEC4E | 26253 | C-type lectin domain family 4 member E | Q9ULY5 |
| C0022568 | Keratitis | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C0022568 | Keratitis | CD38 | 952 | CD38 molecule | P28907 |
| C0022568 | Keratitis | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0022568 | Keratitis | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C0022568 | Keratitis | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0022568 | Keratitis | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0022568 | Keratitis | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0022568 | Keratitis | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0022568 | Keratitis | CAT | 847 | catalase | P04040 |
| C0022568 | Keratitis | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C0022568 | Keratitis | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0022541 | Kearns-Sayre syndrome | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0022541 | Kearns-Sayre syndrome | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0022521 | Kartagener Syndrome | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
