PDK3, pyruvate dehydrogenase kinase 3, 5165

N. diseases: 51; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.010 GeneticVariation phenotype BEFREE This hyper-phosphorylation can be reversed by treating the PDK3(R158H) fibroblasts with the PDK inhibitor dichloroacetate (DCA). 27388934 2016