BAG3, BAG cochaperone 3, 9531

N. diseases: 223; N. variants: 31
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease:
Myopathy, Myofibrillar, Bag3-Related 		0.800 GeneticVariation UNIPROT Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. 21898660 2011
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease:
Myopathy, Myofibrillar, Bag3-Related 		0.800 GeneticVariation UNIPROT BAG3-related myofibrillar myopathy in a Chinese family. 21361913 2012
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease:
Myopathy, Myofibrillar, Bag3-Related 		0.800 GeneticVariation UNIPROT Mutation in BAG3 causes severe dominant childhood muscular dystrophy. 19085932 2009
dbSNP: rs2234962
rs2234962
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		0.800 GeneticVariation GWASCAT A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. 21459883 2011
dbSNP: rs2234962
rs2234962
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		0.800 GeneticVariation GWASDB A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. 21459883 2011
dbSNP: rs387906874
rs387906874
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		0.800 GeneticVariation UNIPROT A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. 21459883 2011
dbSNP: rs387906874
rs387906874
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		0.800 GeneticVariation UNIPROT Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. 21898660 2011
dbSNP: rs387906874
rs387906874
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		0.800 GeneticVariation UNIPROT Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. 21353195 2011
dbSNP: rs387906876
rs387906876
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		0.800 GeneticVariation UNIPROT Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. 21353195 2011
dbSNP: rs387906876
rs387906876
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		0.800 GeneticVariation UNIPROT A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. 21459883 2011
dbSNP: rs387906876
rs387906876
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		0.800 GeneticVariation UNIPROT Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. 21898660 2011
dbSNP: rs397514507
rs397514507
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		0.800 GeneticVariation UNIPROT A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. 21459883 2011
dbSNP: rs397514507
rs397514507
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		0.800 GeneticVariation UNIPROT Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. 21898660 2011
dbSNP: rs397514507
rs397514507
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		0.800 GeneticVariation UNIPROT Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. 21353195 2011
dbSNP: rs397516881
rs397516881
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		0.800 GeneticVariation UNIPROT Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. 21353195 2011
dbSNP: rs397516881
rs397516881
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		0.800 GeneticVariation UNIPROT Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. 21898660 2011
dbSNP: rs397516881
rs397516881
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		0.800 GeneticVariation UNIPROT A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. 21459883 2011
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2678065
Disease:
Myofibrillar Myopathy 		0.730 GeneticVariation BEFREE To investigate the mechanism of disease in BAG3-related MFM, we expressed wild-type BAG3 or the dominant MFM-causing BAG3 (BAG3(P209L)) in zebrafish. 25273835 2014
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2678065
Disease:
Myofibrillar Myopathy 		0.730 GeneticVariation BEFREE The c.626 C > T (p.P209L) mutation in the BAG3 gene has been described as causative of a subtype of MFM. 27443559 2016
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2678065
Disease:
Myofibrillar Myopathy 		0.730 GeneticVariation BEFREE We studied three families with BAG3 p.Pro209Leu mutation showing a severe phenotype of myofibrillar myopathy and axonal neuropathy with giant axons. 20605452 2010
dbSNP: rs397516881
rs397516881
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		0.710 GeneticVariation BEFREE Mutation and downregulation of the co-chaperone protein BCL-2-associated athanogene 3 (BAG3) are associated with cardiac myopathy and heart failure, and a BAG3 E455K mutation leads to dilated cardiomyopathy (DCM). 28737513 2017
dbSNP: rs2234962
rs2234962
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs397514506
rs397514506
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		0.700 GeneticVariation UNIPROT A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. 21459883 2011
dbSNP: rs397514506
rs397514506
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		0.700 GeneticVariation UNIPROT Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. 21898660 2011
dbSNP: rs397514506
rs397514506
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		0.700 GeneticVariation UNIPROT Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. 21353195 2011