Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation CLINVAR BAG3 mutations: another cause of giant axonal neuropathy. 22734908

2012
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation CLINVAR BAG3-related myofibrillar myopathy in a Chinese family. 21361913

2012
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation CLINVAR Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. 21676617

2011
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation 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
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation CLINVAR Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. 21898660

2011
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation CLINVAR Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. 20605452

2010
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation CLINVAR Mutation in BAG3 causes severe dominant childhood muscular dystrophy. 19085932

2009
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation CLINVAR Activation of multiple signal transduction pathways by endothelin in cultured human vascular smooth muscle cells. 2159883

1990
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.430 GeneticVariation CLINVAR

Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.430 CausalMutation CLINVAR

Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.400 CausalMutation CLINVAR Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy. 28737513

2017
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.400 GeneticVariation CLINVAR BAG3 myofibrillar myopathy presenting with cardiomyopathy. 25728519

2015
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.400 GeneticVariation CLINVAR BAG3: a new player in the heart failure paradigm. 25925243

2015
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.400 CausalMutation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.400 CausalMutation CLINVAR Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians. 25448463

2014
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.400 CausalMutation CLINVAR Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy. 24558114

2014
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.400 CausalMutation CLINVAR Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era. 22337857

2012
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.400 CausalMutation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.400 GeneticVariation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.400 GeneticVariation 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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.110 GeneticVariation CLINVAR