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 LHGDN Desmin mutations in a St. Petersburg cohort of cardiomyopathies. 17626518 2006
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 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 HPO
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 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 According to the predominant view, desmin mutations cause dilated cardiomyopathy (DCM). 16890305 2007
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 GeneticVariation group BEFREE Prevalence of desmin mutations in dilated cardiomyopathy. 17325244 2007
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 CausalMutation group CLINVAR "Disease mutations in the ""head"" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties." 19763525 2009
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 GeneticVariation group BEFREE In this paper, we report a novel heterozygous mutation of A285V codon conversion on exon 4 of the desmin (DES), using whole exome sequencing (WES) in an isolated proband with documented dilated cardiomyopathy (DCM). 23300193 2013
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 CausalMutation group CLINVAR High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. 22153487 2012
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 BEFREE Variants in the desmin gene (DES) are associated with desminopathy; a myofibrillar myopathy mainly characterized by muscle weakness, conduction block, and dilated cardiomyopathy. 23815709 2013
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 CausalMutation group CLINVAR Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes. 22484823 2013
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 CLINVAR High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. 22153487 2012
Entrez Id: 1674
Gene Symbol: DES
DES 		0.400 Biomarker group BEFREE Using reduced representation bisulfite sequencing, we found that although CRS did not lead to global changes in DNA methylation in the murine heart, it nevertheless altered methylation at specific genes that are associated with the dilated cardiomyopathy (DCM) (<i>e.g.</i>, desmin) and adrenergic signaling of cardiomyocytes (ASPC) (<i>e.g.</i>, adrenergic receptor-α1) pathways. 31431066 2019
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 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 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 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 CausalMutation group CLINVAR Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. 22275259 2012