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: rs727504448
rs727504448
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		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: 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: rs727504448
rs727504448
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		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: rs121913002
rs121913002
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		0.020 GeneticVariation BEFREE The missense mutation (Ile451Met) of the desmin gene can be the genetic cause of dilated cardiomyopathy, although with very low frequency. 11728149 2001
dbSNP: rs121913002
rs121913002
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		0.020 GeneticVariation BEFREE A missense mutation (Ile 451 to Met) at the tail domain of the muscle-specific intermediate filament protein desmin has been suggested to be a genetic cause of dilated cardiomyopathy. 18539904 2008
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