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