PDXK, pyridoxal kinase, 8566

N. diseases: 27; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs372098146
rs372098146
Entrez Id: 8566
Gene Symbol: PDXK
PDXK
CUI: C0011849
Disease:
Diabetes Mellitus 		0.010 GeneticVariation BEFREE Here we expressed, in dPdxk<sup>1</sup> mutant flies, four PDXK human variants: three (D87H, V128I and H246Q) listed in databases, and one (A243G) found in a genetic screening in patients with diabetes. 31578392 2019
dbSNP: rs372098146
rs372098146
Entrez Id: 8566
Gene Symbol: PDXK
PDXK
CUI: C0011847
Disease:
Diabetes 		0.010 GeneticVariation BEFREE Here we expressed, in dPdxk<sup>1</sup> mutant flies, four PDXK human variants: three (D87H, V128I and H246Q) listed in databases, and one (A243G) found in a genetic screening in patients with diabetes. 31578392 2019
dbSNP: rs377592729
rs377592729
Entrez Id: 8566
Gene Symbol: PDXK
PDXK
CUI: C0011847
Disease:
Diabetes 		0.010 GeneticVariation BEFREE Here we expressed, in dPdxk<sup>1</sup> mutant flies, four PDXK human variants: three (D87H, V128I and H246Q) listed in databases, and one (A243G) found in a genetic screening in patients with diabetes. 31578392 2019
dbSNP: rs377592729
rs377592729
Entrez Id: 8566
Gene Symbol: PDXK
PDXK
CUI: C0011849
Disease:
Diabetes Mellitus 		0.010 GeneticVariation BEFREE Here we expressed, in dPdxk<sup>1</sup> mutant flies, four PDXK human variants: three (D87H, V128I and H246Q) listed in databases, and one (A243G) found in a genetic screening in patients with diabetes. 31578392 2019
dbSNP: rs2010795
rs2010795
Entrez Id: 8566
Gene Symbol: PDXK
PDXK
CUI: C0030567
Disease:
Parkinson Disease 		0.010 GeneticVariation BEFREE We identified a DNA variant (rs2010795) in PDXK associated with an increased risk of PD in the German cohort (p = 0.00032). 20035503 2009