BAG3, BAG cochaperone 3, 9531

N. diseases: 223; N. variants: 31
Disease: Myofibrillar Myopathy ×
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: 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 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 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: rs121918312
rs121918312
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C2678065
Disease:
Myofibrillar Myopathy 		T 0.730 CausalMutation CLINVAR