PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
Disease: Hypertrophic obstructive cardiomyopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.050 GeneticVariation disease BEFREE Our aim was to screen 315 patients with arrhythmogenic right ventricular cardiomyopathy (n = 111), DCM (n = 95), hypertrophic cardiomyopathy (n = 40) and peripartum cardiomyopathy (n = 69) for disease-causing PLN mutations by high resolution melt analysis and DNA sequencing. 26917049 2016
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.050 GeneticVariation disease BEFREE Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland. 21332051 2011
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.050 GeneticVariation disease BEFREE PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. 21167350 2011
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.050 GeneticVariation disease BEFREE Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in a Northern Greek population. 16382369 2005
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.050 GeneticVariation disease BEFREE Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy. 12705874 2003