rs11756438
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
QT interval feature (observable entity)
0.800
GeneticVariation
GWASCAT
Genetic analyses of diverse populations improves discovery for complex traits.
31217584
2019
rs111033559
PLN;CEP85L
CARDIOMYOPATHY, DILATED, 1P
0.800
GeneticVariation
UNIPROT
Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.
22427649
2012
rs111033559
PLN;CEP85L
CARDIOMYOPATHY, DILATED, 1P
0.800
GeneticVariation
UNIPROT
Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.
22707725
2012
rs111033559
PLN;CEP85L
CARDIOMYOPATHY, DILATED, 1P
0.800
GeneticVariation
UNIPROT
Mutations in the human phospholamban gene in patients with heart failure.
22137083
2011
rs11756438
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
QT interval feature (observable entity)
A
0.800
GeneticVariation
GWASDB
Common variants at ten loci influence QT interval duration in the QTGEN Study.
19305408
2009
rs11756438
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
QT interval feature (observable entity)
A
0.800
GeneticVariation
GWASCAT
Common variants at ten loci influence QT interval duration in the QTGEN Study.
19305408
2009
rs111033559
PLN;CEP85L
CARDIOMYOPATHY, DILATED, 1P
0.800
GeneticVariation
UNIPROT
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.
16432188
2006
rs111033559
PLN;CEP85L
CARDIOMYOPATHY, DILATED, 1P
0.800
GeneticVariation
UNIPROT
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.
12610310
2003
rs111033559
PLN;CEP85L
CARDIOMYOPATHY, DILATED, 1P
T
0.800
CausalMutation
CLINVAR
rs111033559
PLN;CEP85L
Cardiomyopathy, Dilated
0.710
GeneticVariation
BEFREE
A mouse line with heterozygous transgenic expression of phospholamban carrying a substitution of cysteine for arginine 9 (TgPLN<sup>R9C</sup>) under the control of α-myosin heavy chain (αMHC) promoter features dilated cardiomyopathy , heart failure, and premature death.
29325795
2018
rs111033559
PLN;CEP85L
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
PLN;CEP85L
Cardiomyopathy, Dilated
T
0.710
CausalMutation
CLINVAR
Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban.
25593317
2015
rs111033559
PLN;CEP85L
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
rs111033560
PLN;CEP85L
Hypertrophic Cardiomyopathy
G
0.710
CausalMutation
CLINVAR
Interpreting secondary cardiac disease variants in an exome cohort.
23861362
2013
rs111033559
PLN;CEP85L
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
PLN;CEP85L
Cardiomyopathy, Dilated
T
0.710
CausalMutation
CLINVAR
Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.
22707725
2012
rs111033559
PLN;CEP85L
Cardiomyopathy, Dilated
T
0.710
CausalMutation
CLINVAR
Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A.
21282613
2011
rs111033560
PLN;CEP85L
Hypertrophic Cardiomyopathy
G
0.710
CausalMutation
CLINVAR
Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland.
21332051
2011
rs111033560
PLN;CEP85L
Hypertrophic Cardiomyopathy
0.710
GeneticVariation
BEFREE
one L39X nonsense mutation was identified in 1 of 1,064 HCM proband cases with a family history of HCM , previously found to be negative for the current HCM genetic test panel.
21167350
2011
rs111033560
PLN;CEP85L
Hypertrophic Cardiomyopathy
G
0.710
CausalMutation
CLINVAR
PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.
21167350
2011
rs111033559
PLN;CEP85L
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
PLN;CEP85L
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
rs111033560
PLN;CEP85L
Hypertrophic Cardiomyopathy
G
0.710
CausalMutation
CLINVAR
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.
17655857
2007
rs111033560
PLN;CEP85L
Hypertrophic Cardiomyopathy
G
0.710
CausalMutation
CLINVAR
[Association between phospholamban gene mutation and dilated cardiomyopathy in the Chengdu area].
16235537
2005
rs111033559
PLN;CEP85L
Cardiomyopathy, Dilated
T
0.710
CausalMutation
CLINVAR
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.
12610310
2003