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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 |
|---|---|---|---|---|---|
| C1449563 | Cardiomyopathy, Familial Idiopathic | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | BDH1 | 622 | 3-hydroxybutyrate dehydrogenase 1 | Q02338 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| 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 |
| C0600228 | Cardiopulmonary Arrest | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0007222 | Cardiovascular Diseases | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0007222 | Cardiovascular Diseases | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0007222 | Cardiovascular Diseases | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0007222 | Cardiovascular Diseases | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C0007222 | Cardiovascular Diseases | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0007222 | Cardiovascular Diseases | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C0007222 | Cardiovascular Diseases | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
| C0007222 | Cardiovascular Diseases | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0007222 | Cardiovascular Diseases | ARSA | 410 | arylsulfatase A | P15289 |
| C0007222 | Cardiovascular Diseases | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
