Disease: Cardiomyopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.120 GeneticVariation group BEFREE The mutation in the HADHB gene causes a systemic disease with early-onset cardiomyopathy. 26070998 2015
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.120 GeneticVariation group BEFREE So far, mutations in hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB) gene exhibit three distinctive phenotypes: severe neonatal presentation with cardiomyopathy, hepatic form with recurrent hypoketotic hypoglycemia, and later-onset axonal sensory neuropathy with episodic myoglobinuria. 24314034 2013
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.120 Biomarker group HPO