×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.
22707725
2012
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.
22820313
2012
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses.
18056057
2008
×
Entrez Id:
8048
Gene Symbol:
CSRP3
CSRP3
Cardiomyopathy, Dilated
0.370
CausalMutation
CLINVAR
×
Entrez Id:
8048
Gene Symbol:
CSRP3
CSRP3
Cardiomyopathy, Dilated
0.370
GeneticVariation
CLINVAR
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
0.400
CausalMutation
CLINVAR
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
10717012
2000
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
0.400
CausalMutation
CLINVAR
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
18061454
2008
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
0.400
GeneticVariation
CLINVAR
Desmin splice variants causing cardiac and skeletal myopathy.
11073539
2000
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
0.400
CausalMutation
CLINVAR
"Disease mutations in the ""head"" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties."
19763525
2009
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
0.400
CausalMutation
CLINVAR
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
22153487
2012
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
0.400
GeneticVariation
CLINVAR
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
19587455
2009
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
0.400
CausalMutation
CLINVAR
Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.
22484823
2013
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
0.400
CausalMutation
CLINVAR
Desmin splice variants causing cardiac and skeletal myopathy.
11073539
2000
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
0.400
GeneticVariation
CLINVAR
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
22153487
2012
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
0.400
GeneticVariation
CLINVAR
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
12620971
2003
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
0.400
CausalMutation
CLINVAR
Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics.
22275259
2012
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
0.400
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
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
0.400
CausalMutation
CLINVAR
Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.
23155419
2012
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
0.400
GeneticVariation
CLINVAR
Desmin myopathy.
14724127
2004
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
0.400
GeneticVariation
CLINVAR
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.
23815709
2013
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
0.400
GeneticVariation
CLINVAR
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
10717012
2000
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
0.400
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
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
0.400
CausalMutation
CLINVAR
Desmin myopathy.
14724127
2004
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
0.400
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
×
Entrez Id:
1674
Gene Symbol:
DES
DES
Cardiomyopathy, Dilated
0.400
GeneticVariation
CLINVAR
A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.
20696008
2011