PDK3, pyruvate dehydrogenase kinase 3, 5165

N. diseases: 51; N. variants: 1
Disease: Axonal neuropathy ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397515323
rs397515323 		0.851 0.080 X 24503479 missense variant G/A snv
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		Nervous System Diseases 0.010 1.000 1 2016 2016