PDK3, pyruvate dehydrogenase kinase 3, 5165

N. diseases: 51; N. variants: 1
Disease: Congenital contractural arachnodactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.010 Biomarker disease BEFREE The specificity and sensitivity of PDK3 as a marker for CCA were 97.5 and 33.0%, respectively, and high PDK3 levels in the sera were correlated with a short survival time for CCA. 31186744 2019