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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 | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| 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 |
| C3495498 | Cardiomyopathy, Familial Hypertrophic, 1 (disorder) | CALR3 | 125972 | calreticulin 3 | Q96L12 |
| 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 |
| C0007193 | Cardiomyopathy, Dilated | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0007193 | Cardiomyopathy, Dilated | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0007193 | Cardiomyopathy, Dilated | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0007193 | Cardiomyopathy, Dilated | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0007193 | Cardiomyopathy, Dilated | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0007193 | Cardiomyopathy, Dilated | LGALS3 | 3958 | galectin 3 | P17931 |
| C0007193 | Cardiomyopathy, Dilated | LPL | 4023 | lipoprotein lipase | P06858 |
