PDLIM5, PDZ and LIM domain 5, 10611

N. diseases: 148; N. variants: 19
Disease: Reducing-body myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270970
Disease: Reducing-body myopathy
Reducing-body myopathy 		0.020 Biomarker disease BEFREE We recently identified the four and a half LIM domain gene FHL1 located on chromosome Xq26 as the causative gene for RBM. 20571991 2010
CUI: C0270970
Disease: Reducing-body myopathy
Reducing-body myopathy 		0.020 GeneticVariation disease BEFREE The mutations detected were exclusive to the second LIM domain of FHL1 and were found in both sporadic as well as familial cases of reducing body myopathy. 19181672 2009