Gene: PAX4 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs114202595
rs114202595
PAX4
0.850 GeneticVariation BEFREE NeuroD1 A45T and PAX4 R121W polymorphisms are associated with plasma glucose level of repaglinide monotherapy in Chinese patients with type 2 diabetes. 22296034

2012
dbSNP: rs114202595
rs114202595
PAX4
0.850 GeneticVariation BEFREE Arg121Trp mutation in PAX4 gene could be associated with beta-cell dysfunction in Japanese subjects with type 2 diabetes mellitus. 16423628

2006
dbSNP: rs114202595
rs114202595
PAX4
0.850 GeneticVariation BEFREE Recently, a missense mutation (Arg121Trp) of PAX4 has been implicated in early and insulin deficient type 2 diabetes in Japanese subjects. 15509590

2004
dbSNP: rs114202595
rs114202595
PAX4
0.850 GeneticVariation BEFREE The R121W mutation in PAX4 is a predisposing factor for the development of type 2 diabetes in Okinawans. 12604352

2003
dbSNP: rs114202595
rs114202595
PAX4
0.850 GeneticVariation BEFREE A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese. 11723072

2001
dbSNP: rs2233580
rs2233580
PAX4
0.740 GeneticVariation BEFREE PAX4 R192H is associated with younger onset of Type 2 diabetes in East Asians in Singapore. 30528630

2019
dbSNP: rs2233580
rs2233580
PAX4
0.740 GeneticVariation BEFREE In the discovery stage, an Asian-specific coding variant rs2233580 (p.Arg192His) in PAX4, and two variants at the known loci, CDKN2B-AS1 and KCNQ1, were significantly associated with type 2 diabetes with exome-wide significance (p <sub>discovery</sub> < 6.45 × 10<sup>-7</sup>). 27744525

2017
dbSNP: rs2233580
rs2233580
PAX4
0.740 GeneticVariation BEFREE We identified the association of a PAX4 Asian-specific missense variant rs2233580 with type 2 diabetes in an exome-chip association analysis, supporting the involvement of PAX4 in the pathogenesis of type 2 diabetes. 27744525

2017
dbSNP: rs2233580
rs2233580
PAX4
0.740 GeneticVariation BEFREE PAX4 rs712701 was not associated with T2D</span> but it was in linkage disequilibrium with rs2233580</span>. 27334367

2016
dbSNP: rs2233580
rs2233580
PAX4
0.740 GeneticVariation BEFREE These results suggested that PAX4 R192H polymorphism generated a protein with defect in transcriptional repressor activities on its target genes, which may lead to β-cell dysfunction associated with MODY and early onset-age of T2D as reported in our previous study. 22521316

2013
dbSNP: rs712701
rs712701
PAX4
0.010 GeneticVariation BEFREE PAX4 rs712701 was not associated with T2D but it was in linkage disequilibrium with rs2233580. 27334367

2016