Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931230
Disease: Vacuolar myopathy
Vacuolar myopathy
0.010 Biomarker disease BEFREE Muscle biopsy showed vacuolar myopathy in 10 patients and deficiency of myophosphorylase enzyme in all patients. 30415384 2020