Disease: Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751595
Disease: Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease
Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease 		0.300 Biomarker disease CTD_human Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene. 2378353 1990