rs1392795567, HNF4A

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. 23348805 2013
Maturity-Onset Diabetes of the Young, Type 1
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
0.700 CausalMutation CLINVAR Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. 23348805 2013
Maturity-Onset Diabetes of the Young, Type 1
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
0.700 CausalMutation CLINVAR Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. 17407387 2007
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. 17407387 2007
Maturity-Onset Diabetes of the Young, Type 1
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
0.700 CausalMutation CLINVAR Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection. 15830177 2005
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection. 15830177 2005
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Cancer in chronic ulcerative colitis. Diagnostic role of segmental colonic lavage. 193395 1977
Maturity-Onset Diabetes of the Young, Type 1
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
0.700 CausalMutation CLINVAR Cancer in chronic ulcerative colitis. Diagnostic role of segmental colonic lavage. 193395 1977