×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiac Arrest
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Sudden Cardiac Death
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathies
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Hypertrophic, Familial
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
0.100
CausalMutation
CLINVAR
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18
0.100
CausalMutation
CLINVAR
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.
12610310
2003
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human.
12639993
2003
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
CARDIOMYOPATHY, DILATED, 1P
0.100
CausalMutation
CLINVAR
Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human.
12639993
2003
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
[Association between phospholamban gene mutation and dilated cardiomyopathy in the Chengdu area].
16235537
2005
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.
16432188
2006
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy.
17010801
2006
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathies
0.100
CausalMutation
CLINVAR
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.
16432188
2006
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
CARDIOMYOPATHY, DILATED, 1P
0.100
CausalMutation
CLINVAR
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.
16432188
2006
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.
17655857
2007
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
CARDIOMYOPATHY, DILATED, 1P
0.100
CausalMutation
CLINVAR
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.
17655857
2007
×
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:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes.
19324307
2009
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Alterations of phospholamban function can exhibit cardiotoxic effects independent of excessive sarcoplasmic reticulum Ca2+-ATPase inhibition.
19139388
2009
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A.
21282613
2011
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Hypertrophic Cardiomyopathy
0.100
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
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland.
21332051
2011
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
CARDIOMYOPATHY, DILATED, 1P
0.100
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
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.
22427649
2012
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase.
22155237
2012