Disease: Classic Maple Syrup Urine Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268568
Disease: Classic Maple Syrup Urine Disease
Classic Maple Syrup Urine Disease 		0.310 GeneticVariation disease BEFREE In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing. 29673582 2018
CUI: C0268568
Disease: Classic Maple Syrup Urine Disease
Classic Maple Syrup Urine Disease 		0.310 Biomarker disease CTD_human