BAG3, BAG cochaperone 3, 9531

N. diseases: 223; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.100 GeneticVariation group BEFREE In conclusion, the P209L mutation in Bag3 does not cause cardiomyopathy in mice up to 16 mo of age under baseline conditions. 30499714 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.100 Biomarker group BEFREE Mutations in BAG3 are associated with dilated cardiomyopathy (DCM), but only a small number of cases have been reported to date, and the natural history of BAG3 cardiomyopathy is poorly understood. 30442290 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.100 GeneticVariation group BEFREE Association of Variants in BAG3 With Cardiomyopathy Outcomes in African American Individuals. 30140897 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.100 Biomarker group BEFREE This case illustrates that counseling of patients with BAG3 myopathy should not predict an inevitable occurrence of cardiomyopathy. 30061062 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.100 GeneticVariation group BEFREE Seven of 42 patients (16.7%) carried rare biallelic (homozygous or compound heterozygous) nonsynonymous or splice-site variations in 6 cardiomyopathy-associated genes (BAG3, DSP, PKP2, RYR2, SCN5A, or TNNI3). 28359509 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.100 Biomarker group BEFREE Earlier studies have ascribed a role for BAG3 in the development of cardiomyopathy in experimental animals leading to the identification of BAG3 mutations in patients with heart failure which may play a part in the onset of disease development and progression. 27381181 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.100 GeneticVariation group BEFREE Our findings suggest that the variants in TNNT2 and BAG3 are associated with a high propensity to life-threatening cardiomyopathy presenting from childhood and young adulthood. 28669108 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.100 Biomarker group BEFREE To model BAG3 cardiomyopathy in a human system, we generated an isogenic series of human induced pluripotent stem cells (iPSCs) with loss-of-function mutations in BAG3. 28724793 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.100 GeneticVariation group BEFREE Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy. 28737513 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.100 Biomarker group BEFREE Our findings that BAG3 is localized at the sarcolemma and t-tubules while modulating myocyte contraction and action potential duration through specific interaction with the β1-adrenergic receptor and L-type Ca(2+) channel provide novel insight into the role of BAG3 in cardiomyopathies and increased arrhythmia risks in heart failure. 26796036 2016
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.100 Biomarker group BEFREE BAG3 ablation in mice results in a lethal cardiomyopathy soon after birth and mutations of this gene have been associated with different cardiomyopathies including stress-induced Takotsubo cardiomyopathy (TTC). 26512958 2015
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.100 GeneticVariation group BEFREE BAG3 myofibrillar myopathy presenting with cardiomyopathy. 25728519 2015
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.100 Biomarker group BEFREE BCL-2-associated athanogene 3 (BAG3) is a protein implicated in the cardiomyocyte stress response and genesis of cardiomyopathy. 25753466 2015