PDK3, pyruvate dehydrogenase kinase 3, 5165

N. diseases: 51; N. variants: 1
Disease: Axonal neuropathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515323
rs397515323
Entrez Id: 5165
Gene Symbol: PDK3
PDK3
CUI: C0270921
Disease:
Axonal neuropathy 		0.010 GeneticVariation BEFREE The clinical, neuroimaging, and electrophysiological findings from a second CMTX6 family with the p.R158H PDK3 mutation were similar to the axonal neuropathy reported in the Australian family. 26801680 2016