PDXK, pyridoxal kinase, 8566

N. diseases: 27; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.020 GeneticVariation group BEFREE Differently from human wild type PDXK, none of the variants was able to completely rescue CABs and glucose content elicited by dPdxk<sup>1</sup> mutation. 31578392 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.020 GeneticVariation group BEFREE Using Drosophila as a model system, we show that PLP deficiency, caused either by mutations in the pyridoxal kinase-coding gene (dPdxk) or by vitamin B6 antagonists, results in chromosome aberrations (CABs). 24651653 2014