PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
Disease: CARDIOMYOPATHY, DILATED, 1P ×
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: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 CausalMutation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685 2015
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 CausalMutation CLINVAR Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia? 26535225 2015
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 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: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 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: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 CausalMutation CLINVAR Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. 12639993 2003