Disease: Cardiomyopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.410 Biomarker group BEFREE While callosal agenesis is not an uncommon finding in fetal medicine, additional presence of hypopigmentation, cataracts and cardiomyopathy is rare and should prompt EPG5 testing. 28748650 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.410 Biomarker group CTD_human Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. 23222957 2013
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.410 Biomarker group HPO