Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.010 GeneticVariation group BEFREE Polyglucosan body myopathy with cardiomyopathy has been associated with mutations in RBCK1, a ubiquitin ligase, which have also been reported in children with early-onset immune disorder. 23995275 2013