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 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 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 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 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 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 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 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
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease UNIPROT A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. 23687351 2013
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease UNIPROT Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment. 12766977 2003
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease CLINVAR Desmin splice variants causing cardiac and skeletal myopathy. 11073539 2000
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease UNIPROT 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 		1.000 GeneticVariation disease CLINVAR Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy. 23425003 2013
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation 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 GeneticVariation 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 GeneticVariation disease UNIPROT αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments. 28470624 2017
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease UNIPROT 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 		1.000 GeneticVariation disease UNIPROT Desminopathies in muscle disease. 15495235 2004
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease UNIPROT 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 CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease UNIPROT A novel desmin R355P mutation causes cardiac and skeletal myopathy. 16009553 2005