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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 | MDH1 | 4190 | malate dehydrogenase 1 | P40925 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | RENBP | 5973 | renin binding protein | P51606 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | SDC4 | 6385 | syndecan 4 | P31431 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | IL1RL1 | 9173 | interleukin 1 receptor like 1 | Q01638 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | ECI1 | 1632 | enoyl-CoA delta isomerase 1 | P42126 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | FASN | 2194 | fatty acid synthase | P49327 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | HSD17B2 | 3294 | hydroxysteroid 17-beta dehydrogenase 2 | P37059 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| 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 |
| C1443892 | Chronic Q Fever | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
