Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.650 GeneticVariation group CLINVAR Familial left ventricular noncompaction associated with a novel mutation in the alpha-cardiac actin gene. 25201647 2014
Entrez Id: 88
Gene Symbol: ACTN2
ACTN2 		0.120 CausalMutation group CLINVAR Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. 20022194 2010
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1 		0.100 CausalMutation group CLINVAR
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D 		0.100 CausalMutation group CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018
Entrez Id: 9531
Gene Symbol: BAG3
BAG3 		0.400 CausalMutation group CLINVAR The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation. 25008357 2014
Entrez Id: 9531
Gene Symbol: BAG3
BAG3 		0.400 CausalMutation group CLINVAR A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. 21459883 2011
Entrez Id: 9531
Gene Symbol: BAG3
BAG3 		0.400 CausalMutation group CLINVAR Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy. 28737513 2017
Entrez Id: 9531
Gene Symbol: BAG3
BAG3 		0.400 CausalMutation group CLINVAR Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians. 25448463 2014
Entrez Id: 9531
Gene Symbol: BAG3
BAG3 		0.400 CausalMutation group CLINVAR Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy. 24558114 2014
Entrez Id: 9531
Gene Symbol: BAG3
BAG3 		0.400 GeneticVariation group CLINVAR Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. 21353195 2011
Entrez Id: 9531
Gene Symbol: BAG3
BAG3 		0.400 GeneticVariation group CLINVAR A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. 21459883 2011
Entrez Id: 9531
Gene Symbol: BAG3
BAG3 		0.400 GeneticVariation group CLINVAR BAG3 myofibrillar myopathy presenting with cardiomyopathy. 25728519 2015
Entrez Id: 9531
Gene Symbol: BAG3
BAG3 		0.400 GeneticVariation group CLINVAR BAG3: a new player in the heart failure paradigm. 25925243 2015
Entrez Id: 9531
Gene Symbol: BAG3
BAG3 		0.400 CausalMutation group CLINVAR Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era. 22337857 2012
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L 		0.100 CausalMutation group CLINVAR Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A. 21282613 2011
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L 		0.100 CausalMutation group CLINVAR Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes. 19324307 2009
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L 		0.100 CausalMutation group CLINVAR A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations. 25928149 2015
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L 		0.100 CausalMutation group CLINVAR A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. 16432188 2006
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L 		0.100 CausalMutation group CLINVAR Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban. 25593317 2015
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L 		0.100 CausalMutation group CLINVAR Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy. 22427649 2012
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L 		0.100 CausalMutation group CLINVAR Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy. 17010801 2006
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L 		0.100 CausalMutation group CLINVAR Structure-function relation of phospholamban: modulation of channel activity as a potential regulator of SERCA activity. 23308118 2013
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L 		0.100 CausalMutation group CLINVAR Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. 12610310 2003
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L 		0.100 CausalMutation group CLINVAR Alterations of phospholamban function can exhibit cardiotoxic effects independent of excessive sarcoplasmic reticulum Ca2+-ATPase inhibition. 19139388 2009
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L 		0.100 CausalMutation group CLINVAR The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase. 22155237 2012