Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 GeneticVariation disease 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
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 GeneticVariation disease BEFREE We screened PAX4 coding sequences in 46 MODY probands without mutation in known MODY genes and in 74 nondiabetic controls using PCR-single-stranded conformational polymorphism analysis followed by direct sequencing. 17426099 2007
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 GeneticVariation disease GWASCAT Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. 29632382 2018
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 GeneticVariation disease GWASCAT Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. 30718926 2019
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 GeneticVariation disease 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
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 ModifyingMutation disease RGD The R121W mutation in PAX4 is a predisposing factor for the development of type 2 diabetes in Okinawans. 12604352 2003
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 Biomarker disease BEFREE There was no evidence of linkage with the markers for NEUROD1 and PAX4 either with MODY or late-onset Type II diabetes. 10230653 1999
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 AlteredExpression disease BEFREE Interestingly, MAFA nuclear expression in both alpha and beta cells, and the percentage of alpha cells expressing PAX4 were found altered in a substantial proportion of patients with type 2 diabetes. 24013263 2013
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 Biomarker disease CTD_human
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 GeneticVariation disease BEFREE Collectively, these data suggest that the T2D-risk allele of rs11603334 could abrogate binding of a complex containing PAX6 and PAX4 and thus lead to increased promoter activity and ARAP1 expression in human pancreatic islets. 24439111 2014
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 GeneticVariation disease BEFREE Objective The rs10229583 polymorphism near paired box gene 4 ( PAX4) is associated with insulin resistance and type 2 diabetes. 28730907 2018
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 CausalMutation disease CLINVAR
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 GeneticVariation disease BEFREE The R121W mutation in PAX4 is a predisposing factor for the development of type 2 diabetes in Okinawans. 12604352 2003
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 Biomarker disease BEFREE In addition to these three major classes, we also review the available evidence on novel genes (CDK5 regulatory subunit associated protein 1-like 1 [CDKAL1], insulin-like growth factor 2 mRNA binding protein 2 [IGF2BP2], potassium voltage-gated channel, KQT-like subfamily, member 1 [KCNQ1], paired box 4 [PAX4] and neuronal differentiation 1 [NEUROD1] transcription factors, ataxia telangiectasia mutated [ATM], and serine racemase [SRR]) that have recently been proposed as possible modulators of therapeutic response in subjects with T2DM. 23018631 2012
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 GeneticVariation disease BEFREE To clarify the role of PAX4 Arg121Trp mutation on the development of type 2 diabetes mellitus, we try to determine the clinical phenotype in diabetic subjects with this mutation. 16423628 2006
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 Biomarker disease BEFREE Overall, we did not find any evidence of susceptibility to ketosis associated with DRB1 and DQB1 genotypes (all P>0.05) in A(-) KPD compared to T2D. 25511714 2015
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 GeneticVariation disease BEFREE Association of PAX4 genetic variants with oral antidiabetic drugs efficacy in Chinese type 2 diabetes patients. 24752311 2014
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 GeneticVariation disease BEFREE Recently, a missense mutation (Arg121Trp) of PAX4 has been implicated in early and insulin deficient type 2 diabetes in Japanese subjects. 15509590 2004
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 GeneticVariation disease BEFREE PAX4 R192H is associated with younger onset of Type 2 diabetes in East Asians in Singapore. 30528630 2019
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 Biomarker disease BEFREE The clinical course of KPD is like that of patients with type 2 diabetes rather than that of type 1 diabetes. 30280274 2018
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 GeneticVariation disease BEFREE PAX4 rs712701 was not associated with T2D but it was in linkage disequilibrium with rs2233580. 27334367 2016
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 GeneticVariation disease UNIPROT This work provides significant implications for the Pax4 gene as one of the predisposing genes for type 2 diabetes in the Japanese. 11723072 2001
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 GeneticVariation disease 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
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 GeneticVariation disease BEFREE Our study identifies rs10229583 near PAX4 as a novel locus for type 2 diabetes in Chinese and other populations and provides new insights into the pathogenesis of type 2 diabetes. 23532257 2013