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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 |
|---|---|---|---|---|---|
| C0034050 | Pulmonary Alveolar Proteinosis | ENO2 | 2026 | enolase 2 | P09104 |
| C0034050 | Pulmonary Alveolar Proteinosis | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C0034050 | Pulmonary Alveolar Proteinosis | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0034050 | Pulmonary Alveolar Proteinosis | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0034050 | Pulmonary Alveolar Proteinosis | SFTPD | 6441 | surfactant protein D | P35247 |
| C0034050 | Pulmonary Alveolar Proteinosis | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0034050 | Pulmonary Alveolar Proteinosis | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C0034050 | Pulmonary Alveolar Proteinosis | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0034050 | Pulmonary Alveolar Proteinosis | SFTPC | 6440 | surfactant protein C | P11686 |
| C0034050 | Pulmonary Alveolar Proteinosis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0392164 | Pulmonary Cystic Fibrosis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0392164 | Pulmonary Cystic Fibrosis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0392164 | Pulmonary Cystic Fibrosis | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0034063 | Pulmonary Edema | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0034063 | Pulmonary Edema | CAT | 847 | catalase | P04040 |
| C0034063 | Pulmonary Edema | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0034065 | Pulmonary Embolism | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0034065 | Pulmonary Embolism | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0034065 | Pulmonary Embolism | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0034065 | Pulmonary Embolism | TBXAS1 | 6916 | thromboxane A synthase 1 | P24557 |
| C0034065 | Pulmonary Embolism | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0034065 | Pulmonary Embolism | CAT | 847 | catalase | P04040 |
| C0034065 | Pulmonary Embolism | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0034067 | Pulmonary Emphysema | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C0034067 | Pulmonary Emphysema | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
