Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5350
Gene Symbol: PLN
PLN
0.330 GeneticVariation disease BEFREE Causative mutations for familial dilated cardiomyopathy (DCM) have been identified in the phospholamban gene. 30794913 2019
Entrez Id: 5350
Gene Symbol: PLN
PLN
0.330 GeneticVariation disease BEFREE Here, we used solution NMR spectroscopy to study the conformational dynamics of two complexes of the catalytic subunit of the cAMP-dependent protein kinase A with WT and R14 deletion phospholamban, a lethal human mutant linked to familial dilated cardiomyopathy. 25775607 2015
Entrez Id: 5350
Gene Symbol: PLN
PLN
0.330 GeneticVariation disease BEFREE Complete genetic and clinical analyses were performed in a family with familial dilated cardiomyopathy due to the PLN-R14Del mutation. 19324307 2009
Entrez Id: 5350
Gene Symbol: PLN
PLN
0.330 GermlineCausalMutation disease ORPHANET Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. 12610310 2003