DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: Neuromuscular Diseases ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150974575
rs150974575
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease:
Neuromuscular Diseases 		T 0.700 GeneticVariation CLINVAR Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. 23815709 2013
dbSNP: rs150974575
rs150974575
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease:
Neuromuscular Diseases 		T 0.700 GeneticVariation CLINVAR High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. 22153487 2012
dbSNP: rs727504448
rs727504448
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease:
Neuromuscular Diseases 		T 0.700 GeneticVariation CLINVAR High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. 22153487 2012
dbSNP: rs150974575
rs150974575
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease:
Neuromuscular Diseases 		T 0.700 GeneticVariation CLINVAR A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene. 20696008 2011
dbSNP: rs267607495
rs267607495
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease:
Neuromuscular Diseases 		T 0.700 GeneticVariation CLINVAR A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene. 20696008 2011
dbSNP: rs727504448
rs727504448
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease:
Neuromuscular Diseases 		T 0.700 GeneticVariation CLINVAR A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene. 20696008 2011
dbSNP: rs150974575
rs150974575
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease:
Neuromuscular Diseases 		T 0.700 GeneticVariation CLINVAR Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. 19587455 2009
dbSNP: rs150974575
rs150974575
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease:
Neuromuscular Diseases 		T 0.700 GeneticVariation CLINVAR Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy. 19716701 2009
dbSNP: rs727504448
rs727504448
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease:
Neuromuscular Diseases 		T 0.700 GeneticVariation CLINVAR Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy. 19716701 2009
dbSNP: rs150974575
rs150974575
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease:
Neuromuscular Diseases 		T 0.700 GeneticVariation CLINVAR Desmin myopathy. 14724127 2004
dbSNP: rs150974575
rs150974575
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease:
Neuromuscular Diseases 		T 0.700 GeneticVariation CLINVAR On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. 12620971 2003
dbSNP: rs727504448
rs727504448
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease:
Neuromuscular Diseases 		T 0.700 GeneticVariation CLINVAR On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. 12620971 2003
dbSNP: rs150974575
rs150974575
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease:
Neuromuscular Diseases 		T 0.700 GeneticVariation CLINVAR Desmin splice variants causing cardiac and skeletal myopathy. 11073539 2000
dbSNP: rs150974575
rs150974575
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease:
Neuromuscular Diseases 		T 0.700 GeneticVariation CLINVAR Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. 10717012 2000
dbSNP: rs727504448
rs727504448
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease:
Neuromuscular Diseases 		T 0.700 GeneticVariation CLINVAR Desmin splice variants causing cardiac and skeletal myopathy. 11073539 2000
dbSNP: rs267607490
rs267607490
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease:
Neuromuscular Diseases 		T 0.700 GeneticVariation CLINVAR