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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 | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | FKTN | 2218 | fukutin | O75072 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | MGAT1 | 4245 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | P26572 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | ENO1 | 2023 | enolase 1 | P06733 |
| 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 |
