PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
Disease: Hypertrophic Cardiomyopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		G 0.710 CausalMutation CLINVAR Interpreting secondary cardiac disease variants in an exome cohort. 23861362 2013
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		G 0.710 CausalMutation CLINVAR Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland. 21332051 2011
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007194
Disease:
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
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007194
Disease:
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
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		G 0.710 CausalMutation CLINVAR Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. 17655857 2007
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		G 0.710 CausalMutation CLINVAR [Association between phospholamban gene mutation and dilated cardiomyopathy in the Chengdu area]. 16235537 2005
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		G 0.710 CausalMutation CLINVAR Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. 12639993 2003