Disease: Pyruvate Dehydrogenase Complex Deficiency Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034345
Disease: Pyruvate Dehydrogenase Complex Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease 		0.310 GeneticVariation disease BEFREE Here we describe a case of PDH deficiency associated with the PDH E1beta subunit (PDHB) gene. 17923481 2008
CUI: C0034345
Disease: Pyruvate Dehydrogenase Complex Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease 		0.310 Biomarker disease CTD_human Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. 15138885 2004