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 GeneticVariation CLINVAR

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: 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: 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: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
0.110 GeneticVariation CLINVAR

Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.900 CausalMutation CLINVAR BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome. 26545904

2015

Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.900 CausalMutation CLINVAR BAG3 mutations: another cause of giant axonal neuropathy. 22734908

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: 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: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.900 CausalMutation CLINVAR BAG3 myofibrillar myopathy presenting with cardiomyopathy. 25728519

2015

Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.900 CausalMutation CLINVAR BAG3-related myofibrillar myopathy in a Chinese family. 21361913

2012

Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.900 CausalMutation CLINVAR Cardiomyocyte-Specific Human Bcl2-Associated Anthanogene 3 P209L Expression Induces Mitochondrial Fragmentation, Bcl2-Associated Anthanogene 3 Haploinsufficiency, and Activates p38 Signaling. 27321750

2016

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: 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: 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: 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: 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: 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: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.900 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: 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: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy
0.800 CausalMutation CLINVAR

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

2009