rs267607490
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
T
0.700
CausalMutation
CLINVAR
rs267607490
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
T
0.700
GeneticVariation
CLINVAR
rs150974575
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
T
0.700
GeneticVariation
CLINVAR
Desmin splice variants causing cardiac and skeletal myopathy.
11073539
2000
rs150974575
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
T
0.700
GeneticVariation
CLINVAR
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
10717012
2000
rs267607483
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
G
0.700
CausalMutation
CLINVAR
Desmin splice variants causing cardiac and skeletal myopathy.
11073539
2000
rs267607483
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
G
0.700
CausalMutation
CLINVAR
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
10717012
2000
rs727504448
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
T
0.700
GeneticVariation
CLINVAR
Desmin splice variants causing cardiac and skeletal myopathy.
11073539
2000
rs121913002
×
Entrez Id:
1674
Gene Symbol:
DES
DES
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
rs150974575
×
Entrez Id:
1674
Gene Symbol:
DES
DES
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
rs727504448
×
Entrez Id:
1674
Gene Symbol:
DES
DES
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
rs150974575
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
T
0.700
GeneticVariation
CLINVAR
Desmin myopathy.
14724127
2004
rs267607483
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
G
0.700
CausalMutation
CLINVAR
Desmin myopathy.
14724127
2004
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
T
0.700
CausalMutation
CLINVAR
Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.
17720647
2007
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
T
0.700
CausalMutation
CLINVAR
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
18061454
2008
rs121913002
×
Entrez Id:
1674
Gene Symbol:
DES
DES
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
rs150974575
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
T
0.700
GeneticVariation
CLINVAR
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
19587455
2009
rs150974575
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
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
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
T
0.700
CausalMutation
CLINVAR
"Disease mutations in the ""head"" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties."
19763525
2009
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
T
0.700
CausalMutation
CLINVAR
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
19879535
2009
rs727504448
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
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
rs150974575
×
Entrez Id:
1674
Gene Symbol:
DES
DES
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
rs267607495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
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
rs727504448
×
Entrez Id:
1674
Gene Symbol:
DES
DES
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
rs150974575
×
Entrez Id:
1674
Gene Symbol:
DES
DES
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
rs267607483
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
G
0.700
CausalMutation
CLINVAR
Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics.
22275259
2012