BAG3, BAG cochaperone 3, 9531

N. diseases: 223; N. variants: 31
Disease: Myopathy, Myofibrillar, Bag3-Related ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease. 28754666 2018
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 Biomarker disease GENOMICS_ENGLAND Whole exome sequencing identified 1 base pair novel deletion in BCL2-associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members. 28211974 2017
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation disease CLINVAR Cardiomyocyte-Specific Human Bcl2-Associated Anthanogene 3 P209L Expression Induces Mitochondrial Fragmentation, Bcl2-Associated Anthanogene 3 Haploinsufficiency, and Activates p38 Signaling. 27321750 2016
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation disease 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
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation disease CLINVAR BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome. 26545904 2015
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation disease CLINVAR BAG3 myofibrillar myopathy presenting with cardiomyopathy. 25728519 2015
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation disease CLINVAR The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation. 25008357 2014
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation disease CLINVAR Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. 25208129 2014
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation disease CLINVAR Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians. 25448463 2014
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation disease CLINVAR Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency. 25273835 2014
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 Biomarker disease GENOMICS_ENGLAND BAG3 mutations: another cause of giant axonal neuropathy. 22734908 2012
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation disease CLINVAR BAG3 mutations: another cause of giant axonal neuropathy. 22734908 2012
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 GeneticVariation disease UNIPROT BAG3-related myofibrillar myopathy in a Chinese family. 21361913 2012
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation disease CLINVAR BAG3-related myofibrillar myopathy in a Chinese family. 21361913 2012
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation disease CLINVAR Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. 21676617 2011
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation disease CLINVAR Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. 21353195 2011
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 GeneticVariation disease UNIPROT Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. 21898660 2011
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation disease CLINVAR Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. 21898660 2011
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 Biomarker disease GENOMICS_ENGLAND Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. 20605452 2010
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation disease CLINVAR Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. 20605452 2010
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 Biomarker disease GENOMICS_ENGLAND BAG3 and Hsc70 interact with actin capping protein CapZ to maintain myofibrillar integrity under mechanical stress. 20884878 2010
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 CausalMutation disease CLINVAR Mutation in BAG3 causes severe dominant childhood muscular dystrophy. 19085932 2009
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 GermlineCausalMutation disease ORPHANET Mutation in BAG3 causes severe dominant childhood muscular dystrophy. 19085932 2009
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 GeneticVariation disease UNIPROT Mutation in BAG3 causes severe dominant childhood muscular dystrophy. 19085932 2009
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 Biomarker disease GENOMICS_ENGLAND Mutation in BAG3 causes severe dominant childhood muscular dystrophy. 19085932 2009