PAX4, paired box 4, 5078

N. diseases: 63; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs114202595
rs114202595
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.850 GeneticVariation UNIPROT Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes? 23492873 2013
dbSNP: rs114202595
rs114202595
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.850 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670 2012
dbSNP: rs114202595
rs114202595
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		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
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		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
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		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
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		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
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.850 GeneticVariation BEFREE A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese. 11723072 2001
dbSNP: rs114202595
rs114202595
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		A 0.850 CausalMutation CLINVAR
dbSNP: rs2233580
rs2233580
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.740 GeneticVariation GWASCAT Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. 30718926 2019
dbSNP: rs2233580
rs2233580
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		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
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.740 GeneticVariation GWASCAT Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. 29632382 2018
dbSNP: rs2233580
rs2233580
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		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
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		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
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		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
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		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: rs2233578
rs2233578
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C3837958
Disease:
Diabetes Mellitus, Ketosis-Prone 		0.710 GeneticVariation UNIPROT Clinical investigation of the homozygous Arg133Trp carriers and of the Arg37Trp carrier demonstrated a more severe alteration in insulin secretory reserve, during a glucagon-stimulation test, compared to other KPD subjects. 15509590 2004
dbSNP: rs2233578
rs2233578
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C3837958
Disease:
Diabetes Mellitus, Ketosis-Prone 		0.710 GeneticVariation BEFREE In addition, one KPD patient was heterozygous for a rare PAX4 variant (Arg37Trp) that was not found in controls and that showed a more severe biochemical phenotype than Arg133Trp. 15509590 2004
dbSNP: rs121917718
rs121917718
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C2677132
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs371715169
rs371715169
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C2677132
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs2233580
rs2233580
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011847
Disease:
Diabetes 		0.030 GeneticVariation BEFREE Minor allele (T) of PAX4 R192H is associated with younger onset diabetes among Chinese in Singapore. 30528630 2019
dbSNP: rs2233580
rs2233580
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011849
Disease:
Diabetes Mellitus 		0.030 GeneticVariation BEFREE Minor allele (T) of PAX4 R192H is associated with younger onset diabetes among Chinese in Singapore. 30528630 2019
dbSNP: rs2233580
rs2233580
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011849
Disease:
Diabetes Mellitus 		0.030 GeneticVariation BEFREE The risk allele (T) of PAX4 rs2233580 was associated with a younger age at diabetes diagnosis. 27744525 2017
dbSNP: rs2233580
rs2233580
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011847
Disease:
Diabetes 		0.030 GeneticVariation BEFREE The risk allele (T) of PAX4 rs2233580 was associated with a younger age at diabetes diagnosis. 27744525 2017
dbSNP: rs2233580
rs2233580
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011849
Disease:
Diabetes Mellitus 		0.030 GeneticVariation BEFREE Single-nucleotide polymorphism R192H might influence the age at onset of diabetes. 17426099 2007
dbSNP: rs2233580
rs2233580
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011847
Disease:
Diabetes 		0.030 GeneticVariation BEFREE Single-nucleotide polymorphism R192H might influence the age at onset of diabetes. 17426099 2007