Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.010 Biomarker disease BEFREE We sequenced the DNM2 gene and the genes associated with myotonia (CLCN1, SCN4A, DMPK and ZNF9) in a sporadic adult patient with CNM and myotonic discharges. 24366529 2014