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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 |
|---|---|---|---|---|---|
| C0013274 | Patent ductus arteriosus | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0013274 | Patent ductus arteriosus | TALDO1 | 6888 | transaldolase 1 | P37837 |
| C0013274 | Patent ductus arteriosus | MSLN | 10232 | mesothelin | Q13421 |
| C0013274 | Patent ductus arteriosus | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0013274 | Patent ductus arteriosus | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0013274 | Patent ductus arteriosus | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0013274 | Patent ductus arteriosus | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0013274 | Patent ductus arteriosus | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0013274 | Patent ductus arteriosus | FASN | 2194 | fatty acid synthase | P49327 |
| C0013274 | Patent ductus arteriosus | ARSD | 414 | arylsulfatase D | P51689 |
| C0013274 | Patent ductus arteriosus | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C0013274 | Patent ductus arteriosus | CEACAM6 | 4680 | CEA cell adhesion molecule 6 | P40199 |
| C0013274 | Patent ductus arteriosus | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0013274 | Patent ductus arteriosus | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0013274 | Patent ductus arteriosus | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0013274 | Patent ductus arteriosus | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0013274 | Patent ductus arteriosus | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0013274 | Patent ductus arteriosus | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0013274 | Patent ductus arteriosus | TKT | 7086 | transketolase | P29401 |
| C0013274 | Patent ductus arteriosus | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
| C1869117 | Paroxysmal nonkinesigenic dyskinesia | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
