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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 |
|---|---|---|---|---|---|
| C0339573 | Glaucoma, Primary Open Angle | IDH3A | 3419 | isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | P50213 |
| C0339573 | Glaucoma, Primary Open Angle | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0339573 | Glaucoma, Primary Open Angle | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0339573 | Glaucoma, Primary Open Angle | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0339573 | Glaucoma, Primary Open Angle | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0339573 | Glaucoma, Primary Open Angle | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0339573 | Glaucoma, Primary Open Angle | ARSD | 414 | arylsulfatase D | P51689 |
| C0339573 | Glaucoma, Primary Open Angle | PRNP | 5621 | prion protein | F7VJQ1 |
| C0339573 | Glaucoma, Primary Open Angle | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0339573 | Glaucoma, Primary Open Angle | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0339573 | Glaucoma, Primary Open Angle | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0339573 | Glaucoma, Primary Open Angle | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0339573 | Glaucoma, Primary Open Angle | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0339578 | Corticosteroid-induced glaucoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0339789 | Congenital deafness | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0339789 | Congenital deafness | TECTA | 7007 | tectorin alpha | O75443 |
| C0339789 | Congenital deafness | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0339789 | Congenital deafness | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0340030 | Pleural plaque | KLRK1 | 22914 | killer cell lectin like receptor K1 | P26718 |
| C0340076 | Asthmatic pulmonary eosinophilia | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0340076 | Asthmatic pulmonary eosinophilia | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C0340076 | Asthmatic pulmonary eosinophilia | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0340076 | Asthmatic pulmonary eosinophilia | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C0340076 | Asthmatic pulmonary eosinophilia | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0340076 | Asthmatic pulmonary eosinophilia | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
