DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: Neuromuscular Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 GeneticVariation group CLINVAR Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. 23815709 2013
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 GeneticVariation group CLINVAR High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. 22153487 2012
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 GeneticVariation group CLINVAR A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene. 20696008 2011
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 GeneticVariation group CLINVAR Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. 19587455 2009
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 GeneticVariation group CLINVAR Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy. 19716701 2009
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 Biomarker group BEFREE Desminopathy is a neuromuscular disorder associated with the accumulation of the protein desmin. 15078418 2004
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 GeneticVariation group CLINVAR Desmin myopathy. 14724127 2004
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 GeneticVariation group CLINVAR On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. 12620971 2003
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 Biomarker group BEFREE Myofibrillar or desmin-related myopathies encompass neuromuscular disorders with abnormal deposits of desmin and myofibrillar alterations. 12365725 2003
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 GeneticVariation group CLINVAR Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. 10717012 2000
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 GeneticVariation group CLINVAR Desmin splice variants causing cardiac and skeletal myopathy. 11073539 2000
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 Biomarker group BEFREE The pathology of desmin in human neuromuscular disorders is always marked by increased amounts, diffusely or focally. 7565929 1995