|
rs111033559
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.
|
25928149 |
2015 |
|
rs111033559
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Structure-function relation of phospholamban: modulation of channel activity as a potential regulator of SERCA activity.
|
23308118 |
2013 |
|
rs111033559
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.
|
22427649 |
2012 |
|
rs111033559
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.
|
22707725 |
2012 |
|
rs111033559
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A.
|
21282613 |
2011 |
|
rs111033559
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Alterations of phospholamban function can exhibit cardiotoxic effects independent of excessive sarcoplasmic reticulum Ca2+-ATPase inhibition.
|
19139388 |
2009 |
|
rs111033559
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses.
|
18056057 |
2008 |
|
rs111033559
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.
|
12610310 |
2003 |
|
rs111033560
|
|
Cardiomyopathy, Dilated
|
G |
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs28933091
|
|
Cardiomyopathy, Dilated
|
G |
0.710 |
CausalMutation
|
CLINVAR |
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.
|
18035086 |
2007 |
|
rs28933091
|
|
Cardiomyopathy, Dilated
|
G |
0.710 |
CausalMutation
|
CLINVAR |
Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.
|
15972724 |
2005 |
|
rs28933091
|
|
Cardiomyopathy, Dilated
|
G |
0.710 |
CausalMutation
|
CLINVAR |
Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy.
|
11792810 |
2001 |
|
rs28933091
|
|
Cardiomyopathy, Dilated
|
G |
0.710 |
CausalMutation
|
CLINVAR |
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
|
11792809 |
2001 |
|
rs28933091
|
|
Cardiomyopathy, Dilated
|
G |
0.710 |
CausalMutation
|
CLINVAR |
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
|
10580070 |
1999 |
|
rs387907218
|
|
Cardiomyopathy, Dilated
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle.
|
11896212 |
2002 |
|
rs387907218
|
|
Cardiomyopathy, Dilated
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction.
|
12468278 |
2002 |
|
rs387907218
|
|
Cardiomyopathy, Dilated
|
C |
0.710 |
CausalMutation
|
CLINVAR |
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.
|
9382096 |
1997 |
|
rs387907218
|
|
Cardiomyopathy, Dilated
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Two cases of endocardial fibroelastosis--possible x-linked determination.
|
4685904 |
1973 |
|
rs397516881
|
|
Cardiomyopathy, Dilated
|
A |
0.710 |
CausalMutation
|
CLINVAR |
Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy.
|
28737513 |
2017 |
|
rs397516881
|
|
Cardiomyopathy, Dilated
|
A |
0.710 |
CausalMutation
|
CLINVAR |
The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.
|
25008357 |
2014 |
|
rs397516881
|
|
Cardiomyopathy, Dilated
|
A |
0.710 |
CausalMutation
|
CLINVAR |
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
|
22337857 |
2012 |
|
rs397516881
|
|
Cardiomyopathy, Dilated
|
A |
0.710 |
CausalMutation
|
CLINVAR |
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.
|
21459883 |
2011 |
|
rs45546039
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q.
|
22710484 |
2012 |
|
rs45546039
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome.
|
22277643 |
2012 |
|
rs45546039
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.
|
22999724 |
2012 |