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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 |
|---|---|---|---|---|---|
| C0878544 | Cardiomyopathies | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0033141 | Cardiomyopathies, Primary | CS | 1431 | citrate synthase | O75390 |
| C0033141 | Cardiomyopathies, Primary | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0033141 | Cardiomyopathies, Primary | LPL | 4023 | lipoprotein lipase | P06858 |
| C0033141 | Cardiomyopathies, Primary | CAT | 847 | catalase | P04040 |
| C0033141 | Cardiomyopathies, Primary | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C0033141 | Cardiomyopathies, Primary | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0033141 | Cardiomyopathies, Primary | ACSL1 | 2180 | acyl-CoA synthetase long chain family member 1 | P33121 |
| C0033141 | Cardiomyopathies, Primary | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C0033141 | Cardiomyopathies, Primary | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0033141 | Cardiomyopathies, Primary | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0155699 | Cardiomyopathy in other diseases classified elsewhere | PFKFB3 | 5209 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | Q16875 |
| C0007192 | Cardiomyopathy, Alcoholic | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0007192 | Cardiomyopathy, Alcoholic | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0007192 | Cardiomyopathy, Alcoholic | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0007192 | Cardiomyopathy, Alcoholic | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0007192 | Cardiomyopathy, Alcoholic | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0007193 | Cardiomyopathy, Dilated | FKTN | 2218 | fukutin | O75072 |
| C0007193 | Cardiomyopathy, Dilated | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0007193 | Cardiomyopathy, Dilated | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0007193 | Cardiomyopathy, Dilated | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0007193 | Cardiomyopathy, Dilated | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0007193 | Cardiomyopathy, Dilated | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0007193 | Cardiomyopathy, Dilated | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0007193 | Cardiomyopathy, Dilated | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
