DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: Cardiomyopathy, Dilated ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607483
rs267607483
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		G 0.700 CausalMutation CLINVAR High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. 22153487 2012
dbSNP: rs267607483
rs267607483
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		G 0.700 CausalMutation CLINVAR Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered. 23155419 2012
dbSNP: rs727504448
rs727504448
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		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: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. 23815709 2013
dbSNP: rs267607483
rs267607483
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		G 0.700 CausalMutation CLINVAR Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes. 22484823 2013
dbSNP: rs1368507241
rs1368507241
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		0.010 GeneticVariation BEFREE In this paper, we report a novel heterozygous mutation of A285V codon conversion on exon 4 of the desmin (DES), using whole exome sequencing (WES) in an isolated proband with documented dilated cardiomyopathy (DCM). 23300193 2013
dbSNP: rs397516695
rs397516695
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		0.010 GeneticVariation BEFREE Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect. 26724190 2016