DES, desmin, 1674

N. diseases: 330; N. variants: 63
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 CausalMutation group CLINVAR Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes. 22484823 2013
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 GeneticVariation group CLINVAR Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. 23815709 2013
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 CausalMutation group CLINVAR Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. 22275259 2012
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 CausalMutation group CLINVAR Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered. 23155419 2012
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 Biomarker group BEFREE Muscle creatine kinase deficiency triggers both actin depolymerization and desmin disorganization by advanced glycation end products in dilated cardiomyopathy. 21768101 2011
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 Biomarker group BEFREE Proteasome functional insufficiency (PFI) has been observed in proteinopathies, such as desmin-related cardiomyopathy, and implicated in many common diseases, including dilated cardiomyopathy and ischemic heart disease. 21841311 2011
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 GeneticVariation group CLINVAR A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene. 20696008 2011
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 GeneticVariation group CLINVAR Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. 19587455 2009
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 CausalMutation group CLINVAR Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. 19879535 2009
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 GeneticVariation group BEFREE According to the predominant view, desmin mutations cause dilated cardiomyopathy (DCM). 16890305 2007
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 GeneticVariation group BEFREE Prevalence of desmin mutations in dilated cardiomyopathy. 17325244 2007
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 AlteredExpression group LHGDN Immunoadsorption and subsequent immunoglobulin substitution decreases myocardial gene expression of desmin in dilated cardiomyopathy. 17924085 2007
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 GeneticVariation group LHGDN Prevalence of desmin mutations in dilated cardiomyopathy. 17325244 2007
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 GeneticVariation group LHGDN Desmin mutations in a St. Petersburg cohort of cardiomyopathies. 17626518 2006
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
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