rs267607482
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.810
GeneticVariation
UNIPROT
Nebulin binding impedes mutant desmin filament assembly.
23615443
2013
rs267607490
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.810
CausalMutation
CLINVAR
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
23349452
2013
rs267607490
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.810
GeneticVariation
UNIPROT
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.
23687351
2013
rs267607490
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.810
GeneticVariation
UNIPROT
Nebulin binding impedes mutant desmin filament assembly.
23615443
2013
rs121913004
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.810
GeneticVariation
UNIPROT
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
22395865
2012
rs267607482
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.810
GeneticVariation
UNIPROT
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
22395865
2012
rs267607490
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.810
CausalMutation
CLINVAR
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
22153487
2012
rs267607490
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.810
GeneticVariation
UNIPROT
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
22395865
2012
rs267607490
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.810
CausalMutation
CLINVAR
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.
22106715
2011
rs121913004
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.810
GeneticVariation
UNIPROT
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
20829228
2010
rs267607482
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.810
GeneticVariation
UNIPROT
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
20829228
2010
rs267607482
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.810
GeneticVariation
BEFREE
Except for two different DES mutations (p.N342D and p.R454W) in two families with DRM and severe biventricular cardiomyopathy, respectively, we did not find additional DES mutations in ARVC(-like) patients.
20423733
2010
rs267607490
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.810
CausalMutation
CLINVAR
Except for two different DES mutations (p.N342D and p.R454W ) in two families with DRM and severe biventricular cardiomyopathy, respectively, we did not find additional DES mutations in ARVC(-like) patients.
20423733
2010
rs267607490
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.810
CausalMutation
CLINVAR
"Mutations in desmin's carboxy-terminal ""tail"" domain severely modify filament and network mechanics."
20171226
2010
rs267607490
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.810
CausalMutation
CLINVAR
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy.
20448486
2010
rs267607490
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.810
GeneticVariation
BEFREE
Except for two different DES mutations (p.N342D and p.R454W ) in two families with DRM and severe biventricular cardiomyopathy, respectively, we did not find additional DES mutations in ARVC(-like) patients.
20423733
2010
rs267607490
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.810
GeneticVariation
UNIPROT
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
20829228
2010
rs121913004
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.810
GeneticVariation
UNIPROT
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
19879535
2009
rs267607482
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.810
GeneticVariation
UNIPROT
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
19879535
2009
rs267607490
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.810
GeneticVariation
UNIPROT
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
19879535
2009
rs267607490
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.810
CausalMutation
CLINVAR
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.
17221859
2007
rs121913004
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.810
GeneticVariation
UNIPROT
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
16865695
2006
rs267607482
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.810
GeneticVariation
UNIPROT
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
16865695
2006
rs267607490
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.810
GeneticVariation
UNIPROT
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
16865695
2006
rs121913004
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.810
GeneticVariation
UNIPROT
Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.
15800015
2005