Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1674
Gene Symbol: DES
DES
0.070 GeneticVariation disease BEFREE Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (<i>DES</i>) Mutation p.Y122H Leading to a Severe Filament Assembly Defect. 31718026 2019
Entrez Id: 1674
Gene Symbol: DES
DES
0.070 GeneticVariation disease BEFREE In contrast, mutations in only desmin and cardiac troponin T and I (TNNI3) have been shown to cause restrictive cardiomyopathy (RCM). 18006163 2009
Entrez Id: 1674
Gene Symbol: DES
DES
0.070 GeneticVariation disease BEFREE We evaluated a family with restrictive cardiomyopathy (RCM) associated with a novel desmin mutation and reviewed recent reports regarding the frequency of RCM in patients with desmin myopathy. 16890305 2007
Entrez Id: 1674
Gene Symbol: DES
DES
0.070 GeneticVariation disease BEFREE Patients with restrictive cardiomyopathy (RCM) plus atrioventricular block (AVB) due to DES defects are frequently unrecognized unless desmin accumulation is specifically investigated in endomyocardial biopsy (EMB) by ultrastructural study. 16376610 2006
Entrez Id: 1674
Gene Symbol: DES
DES
0.070 GeneticVariation disease LHGDN The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation. 15759133 2005
Entrez Id: 1674
Gene Symbol: DES
DES
0.070 GeneticVariation disease BEFREE We describe a large family with apparent autosomal dominant inheritance of desmin-associated RC spanning four generations, with the age of onset and severity/rate of progression being highly variable. 11298680 2001
Entrez Id: 1674
Gene Symbol: DES
DES
0.070 Biomarker disease BEFREE This observation and previous reports suggest that desmin accumulation is probably less rare than was thought in patients with unexplained hypertrophic or restrictive cardiomyopathies. 8004844 1994