Gene: PLN ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5350
Gene Symbol: PLN
PLN 		0.700 CausalMutation group CLINVAR Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. 23785128 2013
Entrez Id: 5350
Gene Symbol: PLN
PLN 		0.700 CausalMutation group CLINVAR Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. 22820313 2012
Entrez Id: 5350
Gene Symbol: PLN
PLN 		0.700 CausalMutation group CLINVAR Thus, by chronic suppression of sarcoplasmic reticulum Ca(2+)-ATPase activity, the nonreversible superinhibitory function of mutant PLN-R14Del may lead to inherited dilated cardiomyopathy and premature death in both humans and mice. 16432188 2006
Entrez Id: 5350
Gene Symbol: PLN
PLN 		0.700 GeneticVariation group CLINVAR