rs114202595, PAX4

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Non-Insulin-Dependent
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
Diabetes Mellitus, Non-Insulin-Dependent
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
Diabetes Mellitus, Non-Insulin-Dependent
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
Diabetes Mellitus, Non-Insulin-Dependent
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
Diabetes Mellitus, Non-Insulin-Dependent
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
Diabetes Mellitus, Non-Insulin-Dependent
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
Diabetes Mellitus, Non-Insulin-Dependent
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
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
0.850 CausalMutation CLINVAR
Diabetes Mellitus, Ketosis-Prone
CUI: C3837958
Disease: Diabetes Mellitus, Ketosis-Prone
0.010 GeneticVariation BEFREE The phenotype similarities between KPD and Japanese carriers of Arg121Trp have prompted us to investigate the role of PAX4 in KPD. 15509590 2004
Diabetes
CUI: C0011847
Disease: Diabetes
0.010 GeneticVariation BEFREE The odds ratio of diabetes in the R121W variants was 5.98 with 95% confidence interval from 1.50 to 23.9. 12604352 2003
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.010 GeneticVariation BEFREE The odds ratio of diabetes in the R121W variants was 5.98 with 95% confidence interval from 1.50 to 23.9. 12604352 2003