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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 | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | SDC1 | 6382 | syndecan 1 | P18827 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | KL | 9365 | klotho | Q9UEF7 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | LGALS3 | 3958 | galectin 3 | P17931 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | LY75 | 4065 | lymphocyte antigen 75 | O60449 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| 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 |
