Disease: Vacuolar myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931230
Disease: Vacuolar myopathy
Vacuolar myopathy 		0.020 GeneticVariation disease BEFREE Distal myopathy with rimmed vacuoles (DMRVs) is an autosomal recessive vacuolar myopathy that has been reported in different ethnic populations with the common mutations of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. 21307865 2011
CUI: C2931230
Disease: Vacuolar myopathy
Vacuolar myopathy 		0.020 Biomarker disease BEFREE IBM2 is a recessively inherited vacuolar myopathy with a prevalence rate of 1-2/1000 amongst people of Iranian-Jewish descent. 12409274 2002