PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0878544
Disease:
Cardiomyopathies
T 0.700 CausalMutation CLINVAR Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. 23785128 2013
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0878544
Disease:
Cardiomyopathies
T 0.700 CausalMutation CLINVAR Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. 22820313 2012
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0878544
Disease:
Cardiomyopathies
T 0.700 CausalMutation CLINVAR A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. 16432188 2006