DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: Muscular Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.230 Biomarker disease MGD The toxic effect of R350P mutant desmin in striated muscle of man and mouse. 25394388 2015
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		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
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		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
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.230 GeneticVariation disease BEFREE Desminopathy is a familial or sporadic cardiac and skeletal muscular dystrophy associated with mutations in desmin. 14991347 2004
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.230 Biomarker disease MGD The absence of desmin leads to cardiomyocyte hypertrophy and cardiac dilation with compromised systolic function. 10591032 1999
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.230 Biomarker disease MGD Disruption of muscle architecture and myocardial degeneration in mice lacking desmin. 8794866 1996