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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 | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | PCCB | 5096 | propionyl-CoA carboxylase subunit beta | P05166 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | PRG2 | 5553 | proteoglycan 2, pro eosinophil major basic protein | P13727 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | SRGN | 5552 | serglycin | P10124 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | SULF2 | 55959 | sulfatase 2 | Q8IWU5 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| 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 |
