Gene: DES ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 GeneticVariation group CLINVAR Desmin myopathy. 14724127 2004
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 CausalMutation group CLINVAR Desmin myopathy. 14724127 2004
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 GeneticVariation group CLINVAR On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. 12620971 2003
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 GeneticVariation group BEFREE The missense mutation (Ile451Met) of the desmin gene can be the genetic cause of dilated cardiomyopathy, although with very low frequency. 11728149 2001
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 CausalMutation group CLINVAR Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. 10717012 2000
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 GeneticVariation group CLINVAR Desmin splice variants causing cardiac and skeletal myopathy. 11073539 2000
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 CausalMutation group CLINVAR Desmin splice variants causing cardiac and skeletal myopathy. 11073539 2000
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 GeneticVariation group BEFREE Epidemiology of desmin and cardiac actin gene mutations in a european population of dilated cardiomyopathy. 11052860 2000
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 GeneticVariation group CLINVAR Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. 10717012 2000
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 Biomarker group BEFREE To determine whether a defect of desmin induces dilated cardiomyopathy, 44 probands with FDCM underwent clinical evaluation and DNA analysis. 10430757 1999
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 Biomarker group BEFREE Missense mutations in the rod domain of the lamin A/C gene provide a genetic cause for dilated cardiomyopathy and indicate that this intermediate filament protein has an important role in cardiac conduction and contractility. 10580070 1999
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 Biomarker group MGD The absence of desmin leads to cardiomyocyte hypertrophy and cardiac dilation with compromised systolic function. 10591032 1999
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 Biomarker group MGD Disruption of muscle architecture and myocardial degeneration in mice lacking desmin. 8794866 1996
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 Biomarker group HPO