PDLIM5, PDZ and LIM domain 5, 10611

N. diseases: 148; N. variants: 19
Disease: Myofibrillar Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.020 GeneticVariation disease BEFREE Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy. 27443559 2016
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.020 GeneticVariation disease BEFREE A mutation extraneous to LIM domains resulted in a mild late-onset phenotype with MFM pathology but no reducing bodies. 22094483 2011