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 |
---|---|---|---|---|---|
C0007193 | Cardiomyopathy, Dilated | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C0007193 | Cardiomyopathy, Dilated | MTM1 | 4534 | myotubularin 1 | Q13496 |
C0007193 | Cardiomyopathy, Dilated | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
C0007193 | Cardiomyopathy, Dilated | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
C0007193 | Cardiomyopathy, Dilated | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
C0007193 | Cardiomyopathy, Dilated | BDH1 | 622 | 3-hydroxybutyrate dehydrogenase 1 | Q02338 |
C0007193 | Cardiomyopathy, Dilated | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
C0007193 | Cardiomyopathy, Dilated | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
C3495498 | Cardiomyopathy, Familial Hypertrophic, 1 (disorder) | CALR3 | 125972 | calreticulin 3 | Q96L12 |
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 |
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Last updated: August 19, 2024