rs1036483919, GCK

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
0.020 GeneticVariation BEFREE Mutation p.T130I was associated with both early-onset and late-onset diabetes and caused downregulated HNF4A expression, whereas HNF1A polymorphisms p.I27L and p.S487N were associated with the age of diagnosis of diabetes. 26981542 2016
Diabetes
CUI: C0011847
Disease: Diabetes
0.020 GeneticVariation BEFREE Mutation p.T130I was associated with both early-onset and late-onset diabetes and caused downregulated HNF4A expression, whereas HNF1A polymorphisms p.I27L and p.S487N were associated with the age of diagnosis of diabetes. 26981542 2016
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.020 GeneticVariation BEFREE Mutation p.T130I was associated with both early-onset and late-onset diabetes and caused downregulated HNF4A expression, whereas HNF1A polymorphisms p.I27L and p.S487N were associated with the age of diagnosis of diabetes. 26981542 2016
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.020 GeneticVariation BEFREE The heterozygous T130I mutation was the unique functional gene variation that could explain diabetes phenotype. 25361053 2014
Diabetes
CUI: C0011847
Disease: Diabetes
0.020 GeneticVariation BEFREE The heterozygous T130I mutation was the unique functional gene variation that could explain diabetes phenotype. 25361053 2014
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE Early-onset type 2 diabetes mellitus is associated to HNF4A T130I polymorphism in families of central Spain. 25361053 2014
Gestational Diabetes
CUI: C0085207
Disease: Gestational Diabetes
0.010 GeneticVariation BEFREE Diabetes diagnosed in T130I mutation carriers was related to stressful situations in an earlier age and tightly associated with gestational diabetes. 25361053 2014