Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease UNIPROT Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects. 16376610 2006
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 CausalMutation disease CLINVAR A dysfunctional desmin mutation in a patient with severe generalized myopathy. 9736733 1998
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease CLINVAR Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. 23815709 2013
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease UNIPROT Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation. 10905661 2000
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 CausalMutation disease CLINVAR Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. 20448486 2010
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 Biomarker disease CLINGEN Desmin in muscle and associated diseases: beyond the structural function. 25358400 2015
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease BEFREE Recently, mutations of the desmin gene have been reported to cause familial or sporadic forms of human skeletal, as well as cardiac, myopathy, termed desmin-related myopathy (DRM). 16217025 2005
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease UNIPROT Desmin ( DES) mutations have been recognized as a cause of desmin-related myopathy (OMIM 601419), or desminopathy, a disease characterized by progressive limb muscle weakness and accumulation of desmin-reactive granular aggregates in the myofibers. 14648196 2004
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 Biomarker disease BEFREE N-acetyl-L-cysteine prevents stress-induced desmin aggregation in cellular models of desminopathy. 24098483 2013
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease UNIPROT Mutations in the intermediate filament (IF) protein desmin (DES), a major cytoskeletal component of myocytes, lead to severe forms of "desminopathy," which affects cardiac, skeletal, and smooth muscle. 17221859 2007
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 CausalMutation disease CLINVAR Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks. 20423733 2010
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 CausalMutation disease CLINVAR Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro. 15800015 2005
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease UNIPROT A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates. 11061256 2000
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease BEFREE Here, we describe and comprehensively characterize two DES mutations found in Polish patients with a clinical diagnosis of desminopathy. 25541946 2014
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease CLINVAR Desmin Mutation in the C-Terminal Domain Impairs Traction Force Generation in Myoblasts. 26789769 2016
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 Biomarker disease CLINGEN We report the first point mutation in desmin cosegregating with an autosomal dominant form of desmin-related myopathy. 10545598 1999
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease BEFREE This is the first time that a mutation affecting this domain in the desmin molecule is described in a desminopathy. 20133133 2010
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease CLINVAR Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants. 22403400 2012
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 CausalMutation disease CLINVAR Mutations in the intermediate filament (IF) protein desmin (DES), a major cytoskeletal component of myocytes, lead to severe forms of "desminopathy," which affects cardiac, skeletal, and smooth muscle. 17221859 2007
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 CausalMutation disease CLINVAR Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue. 27393313 2016
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 CausalMutation disease CLINVAR The toxic effect of R350P mutant desmin in striated muscle of man and mouse. 25394388 2015
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease UNIPROT Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. 19879535 2009