PDLIM5, PDZ and LIM domain 5, 10611

N. diseases: 148; N. variants: 19
Disease: Myofibrillar Myopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368434732
rs368434732
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C2678065
Disease:
Myofibrillar Myopathy 		0.010 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