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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 | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | VTCN1 | 79679 | V-set domain containing T cell activation inhibitor 1 | Q7Z7D3 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | CAT | 847 | catalase | P04040 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | NAMPT | 10135 | nicotinamide phosphoribosyltransferase | P43490 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| 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 |
