PDK3, pyruvate dehydrogenase kinase 3, 5165

N. diseases: 51; N. variants: 1
Disease: X-linked Charcot-Marie-Tooth disease type 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4706411
Disease: X-linked Charcot-Marie-Tooth disease type 6
X-linked Charcot-Marie-Tooth disease type 6 		0.010 GeneticVariation disease BEFREE X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene. 26801680 2016