Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1674
Gene Symbol: DES
DES
0.190 GeneticVariation phenotype BEFREE Discovery of a new mutation in the desmin gene in a young patient with cardiomyopathy and muscular weakness. 28523323 2017
Entrez Id: 1674
Gene Symbol: DES
DES
0.190 GeneticVariation phenotype 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
0.190 Biomarker phenotype BEFREE Disease associated with mutations in filamin C rod domain leading to expression of a toxic protein presents with progressive proximal muscle weakness and shows focal destructive lesions of polymorphous aggregates containing desmin, myotilin and other proteins in the affected myofibres; these features correspond to the profile of myofibrillar myopathy. 22961544 2012
Entrez Id: 1674
Gene Symbol: DES
DES
0.190 GeneticVariation phenotype BEFREE Herein is reported an autopsy case of a 57-year-old Japanese man with adult-onset skeletal muscle weakness and atrioventricular (A-V) conducting block, with a missense A337P mutation in exon 5 of the desmin gene. 17199740 2007
Entrez Id: 1674
Gene Symbol: DES
DES
0.190 Biomarker phenotype BEFREE 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
0.190 GeneticVariation phenotype BEFREE We have previously characterized a de novo desmin R406W mutation in a patient of European origin with early onset muscle weakness in the lower extremities and atrioventricular conduction block requiring a permanent pacemaker. 14991347 2004
Entrez Id: 1674
Gene Symbol: DES
DES
0.190 GeneticVariation phenotype BEFREE Desmin myopathy is a familial or sporadic disorder characterized by the presence of desmin mutations that cause skeletal muscle weakness associated with cardiac conduction block, arrhythmia and heart failure. 12609507 2003
Entrez Id: 1674
Gene Symbol: DES
DES
0.190 GeneticVariation phenotype BEFREE The present study was conducted to determine structural and functional defects in a pathogenic desmin variant that caused a disabling disorder in an isolated case presenting with distal and proximal limb muscle weakness and cardiomyopathy. 11668632 2001
Entrez Id: 1674
Gene Symbol: DES
DES
0.190 GeneticVariation phenotype BEFREE The present study was conducted to determine the cause of desmin myopathy in a sporadic patient presenting with symmetrical muscle weakness and atrophy combined with atrioventricular conduction block requiring a permanent pacemaker. 10905661 2000
Entrez Id: 1674
Gene Symbol: DES
DES
0.190 CausalMutation phenotype CLINVAR