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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 |
|---|---|---|---|---|---|
| C0007222 | Cardiovascular Diseases | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0007222 | Cardiovascular Diseases | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0007222 | Cardiovascular Diseases | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
| C0600228 | Cardiopulmonary Arrest | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0949658 | Cardiomyopathy, Hypertrophic, Familial | GLA | 2717 | galactosidase alpha | P06280 |
| C0949658 | Cardiomyopathy, Hypertrophic, Familial | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0949658 | Cardiomyopathy, Hypertrophic, Familial | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0949658 | Cardiomyopathy, Hypertrophic, Familial | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0949658 | Cardiomyopathy, Hypertrophic, Familial | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0949658 | Cardiomyopathy, Hypertrophic, Familial | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | FKTN | 2218 | fukutin | O75072 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | MGAT1 | 4245 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | P26572 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | ENO1 | 2023 | enolase 1 | P06733 |
