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 Biomarker group HPO
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 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 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 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 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 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 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 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 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 Biomarker group BEFREE However, mutations at the inner dense plaque, particularly affecting the desmin-binding site of desmoplakin, may result in ARVC with predominantly left ventricular involvement and clinical overlapping with dilated cardiomyopathy. 16698823 2006
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 GeneticVariation group BEFREE According to the predominant view, desmin mutations cause dilated cardiomyopathy (DCM). 16890305 2007
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 GeneticVariation group BEFREE Prevalence of desmin mutations in dilated cardiomyopathy. 17325244 2007
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 GeneticVariation group LHGDN Prevalence of desmin mutations in dilated cardiomyopathy. 17325244 2007
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 GeneticVariation group LHGDN Desmin mutations in a St. Petersburg cohort of cardiomyopathies. 17626518 2006
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 CausalMutation group CLINVAR Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene. 17720647 2007
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 AlteredExpression group LHGDN Immunoadsorption and subsequent immunoglobulin substitution decreases myocardial gene expression of desmin in dilated cardiomyopathy. 17924085 2007
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 CausalMutation group CLINVAR Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family. 18061454 2008
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 GeneticVariation group BEFREE Analysis of hearts from transgenic animals revealed that mutant desmin loses its Z-disc localization but it can still associate with the intercalated discs, which, however, have an altered architecture, resembling other examples of dilated cardiomyopathy. 18539904 2008
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 GeneticVariation group CLINVAR Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. 19587455 2009
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 GeneticVariation group CLINVAR Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy. 19716701 2009