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: rs1554877765
rs1554877765
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		TC 0.700 GeneticVariation CLINVAR
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease:
Myopathy, Myofibrillar, Bag3-Related 		T 0.800 CausalMutation CLINVAR 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 		T 0.800 CausalMutation CLINVAR Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency. 25273835 2014
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease:
Myopathy, Myofibrillar, Bag3-Related 		T 0.800 CausalMutation CLINVAR Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. 21676617 2011
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease:
Myopathy, Myofibrillar, Bag3-Related 		T 0.800 CausalMutation CLINVAR BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome. 26545904 2015
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease:
Myopathy, Myofibrillar, Bag3-Related 		T 0.800 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
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease:
Myopathy, Myofibrillar, Bag3-Related 		T 0.800 CausalMutation CLINVAR Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. 20605452 2010
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease:
Myopathy, Myofibrillar, Bag3-Related 		T 0.800 CausalMutation CLINVAR Mutation in BAG3 causes severe dominant childhood muscular dystrophy. 19085932 2009
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease:
Myopathy, Myofibrillar, Bag3-Related 		T 0.800 CausalMutation CLINVAR 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 		T 0.800 CausalMutation CLINVAR BAG3 myofibrillar myopathy presenting with cardiomyopathy. 25728519 2015
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease:
Myopathy, Myofibrillar, Bag3-Related 		T 0.800 CausalMutation CLINVAR Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. 25208129 2014
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease:
Myopathy, Myofibrillar, Bag3-Related 		T 0.800 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
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease:
Myopathy, Myofibrillar, Bag3-Related 		T 0.800 CausalMutation CLINVAR BAG3 mutations: another cause of giant axonal neuropathy. 22734908 2012
dbSNP: rs387906874
rs387906874
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2678065
Disease:
Myofibrillar Myopathy 		T 0.730 CausalMutation CLINVAR
dbSNP: rs1057517945
rs1057517945
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2751831
Disease:
Myopathy, Myofibrillar, Bag3-Related 		T 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
dbSNP: rs1057517945
rs1057517945
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		T 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
dbSNP: rs1060502815
rs1060502815
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs117749531
rs117749531
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		T 0.700 CausalMutation CLINVAR BAG3 mutations: another cause of giant axonal neuropathy. 22734908 2012
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		T 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
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		T 0.700 CausalMutation CLINVAR Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. 20605452 2010
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		T 0.700 CausalMutation CLINVAR 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: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		T 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
dbSNP: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C3151293
Disease:
CARDIOMYOPATHY, DILATED, 1HH 		T 0.700 CausalMutation CLINVAR BAG3-related myofibrillar myopathy in a Chinese family. 21361913 2012