BAG3, BAG cochaperone 3, 9531

N. diseases: 223; N. variants: 31
Disease: Muscular Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.130 Biomarker disease BEFREE We screened a large cohort of muscular dystrophy patients for abnormalities in FHL1 (n=102) and TCAP (n=100) and selected patients whose clinical features overlapped the phenotypes previously described for BAG3 (n=9), MATR3 (n=15) and PTRF (n=7). 21683594 2011
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.130 Biomarker disease BEFREE It is clear from recent identification of a Bag3 mutation that causes a form of muscular dystrophy that the full function of Bag3 in disease is not clear. 20001957 2009
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.130 GeneticVariation disease BEFREE We conclude mutation in Bag3 defines a novel severe autosomal dominant childhood muscular dystrophy. 19085932 2009
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.130 Biomarker disease HPO