Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1674
Gene Symbol: DES
DES
0.230 Biomarker disease MGD The toxic effect of R350P mutant desmin in striated muscle of man and mouse. 25394388 2015
Entrez Id: 1674
Gene Symbol: DES
DES
0.230 GeneticVariation disease BEFREE We identified causative mutations in desmin (IVS3+3A>G) and filamin C (p.W2710X), and augmented the phenotype data for individuals with muscular dystrophy due to these mutations. 23155419 2012
Entrez Id: 1674
Gene Symbol: DES
DES
0.230 Biomarker disease BEFREE Muscle biopsy showed the features of muscular dystrophy with bluish rimmed vacuoles and sarcoplasmic inclusions, which were immunoreactive to desmin. 16010068 2005
Entrez Id: 1674
Gene Symbol: DES
DES
0.230 GeneticVariation disease BEFREE Desminopathy is a familial or sporadic cardiac and skeletal muscular dystrophy associated with mutations in desmin. 14991347 2004
Entrez Id: 1674
Gene Symbol: DES
DES
0.230 Biomarker disease MGD The absence of desmin leads to cardiomyocyte hypertrophy and cardiac dilation with compromised systolic function. 10591032 1999
Entrez Id: 1674
Gene Symbol: DES
DES
0.230 Biomarker disease MGD Disruption of muscle architecture and myocardial degeneration in mice lacking desmin. 8794866 1996