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: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.900 CausalMutation CLINVAR Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency. 25273835

2014
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation CLINVAR Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency. 25273835

2014
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.900 CausalMutation CLINVAR Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. 25208129

2014
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation CLINVAR Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. 25208129

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: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.900 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: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 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 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: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.900 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: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 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 Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians. 25448463

2014
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.900 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 Mutation in BAG3 causes severe dominant childhood muscular dystrophy. 19085932

2009
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: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.900 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 Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. 20605452

2010
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.900 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 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 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: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.900 CausalMutation CLINVAR Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy. 27443559

2016
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation CLINVAR Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy. 27443559

2016
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: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.900 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 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 Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. 21676617

2011