HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1375557127
rs1375557127
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0020456
Disease:
Hyperglycemia 		A 0.700 CausalMutation CLINVAR Analysis of the HNF4 alpha gene in Caucasian type II diabetic nephropathic patients. 10768098 2000
dbSNP: rs1375557127
rs1375557127
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		A 0.700 CausalMutation CLINVAR Analysis of the HNF4 alpha gene in Caucasian type II diabetic nephropathic patients. 10768098 2000
dbSNP: rs1223493898
rs1223493898
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1956346
Disease:
Coronary Artery Disease 		0.010 GeneticVariation BEFREE Association of the PPARG Pro12Ala polymorphism with type 2 diabetes and incident coronary heart disease in a Hong Kong Chinese population. 22515931 2012
dbSNP: rs1223493898
rs1223493898
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0010068
Disease:
Coronary heart disease 		0.010 GeneticVariation BEFREE Association of the PPARG Pro12Ala polymorphism with type 2 diabetes and incident coronary heart disease in a Hong Kong Chinese population. 22515931 2012
dbSNP: rs1223493898
rs1223493898
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0010054
Disease:
Coronary Arteriosclerosis 		0.010 GeneticVariation BEFREE Association of the PPARG Pro12Ala polymorphism with type 2 diabetes and incident coronary heart disease in a Hong Kong Chinese population. 22515931 2012
dbSNP: rs1800961
rs1800961
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1445957
Disease:
Serum total cholesterol measurement 		T 0.800 GeneticVariation GWASCAT Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs1800961
rs1800961
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASCAT Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs1800961
rs1800961
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs1800961
rs1800961
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1445957
Disease:
Serum total cholesterol measurement 		T 0.800 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs1800961
rs1800961
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0428472
Disease:
Serum HDL cholesterol measurement 		T 0.700 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs1800961
rs1800961
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0201657
Disease:
C-reactive protein measurement 		T 0.800 GeneticVariation GWASCAT Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. 27286809 2016
dbSNP: rs1800961
rs1800961
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1445957
Disease:
Serum total cholesterol measurement 		T 0.800 GeneticVariation GWASCAT Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. 27286809 2016
dbSNP: rs1800961
rs1800961
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASCAT Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. 27286809 2016
dbSNP: rs1800961
rs1800961
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		T 0.700 GeneticVariation GWASCAT Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. 27286809 2016
dbSNP: rs1392795567
rs1392795567
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0020456
Disease:
Hyperglycemia 		A 0.700 CausalMutation CLINVAR Cancer in chronic ulcerative colitis. Diagnostic role of segmental colonic lavage. 193395 1977
dbSNP: rs1392795567
rs1392795567
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		A 0.700 CausalMutation CLINVAR Cancer in chronic ulcerative colitis. Diagnostic role of segmental colonic lavage. 193395 1977
dbSNP: rs1375557127
rs1375557127
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		A 0.700 CausalMutation CLINVAR Characteristics of maturity onset diabetes of the young in a large diabetes center. 26059258 2016
dbSNP: rs1375557127
rs1375557127
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0020456
Disease:
Hyperglycemia 		A 0.700 CausalMutation CLINVAR Characteristics of maturity onset diabetes of the young in a large diabetes center. 26059258 2016
dbSNP: rs1555815393
rs1555815393
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Clinical features and treatment of maturity onset diabetes of the young (MODY). 22654519 2012
dbSNP: rs1375557127
rs1375557127
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		A 0.700 CausalMutation CLINVAR Clinical heterogeneity of abnormal glucose homeostasis associated with the HNF4A R311H mutation. 24947580 2014
dbSNP: rs1375557127
rs1375557127
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0020456
Disease:
Hyperglycemia 		A 0.700 CausalMutation CLINVAR Clinical heterogeneity of abnormal glucose homeostasis associated with the HNF4A R311H mutation. 24947580 2014
dbSNP: rs2144908
rs2144908
Entrez Id: 3172;105372629
Gene Symbol: HNF4A;LOC105372629
HNF4A;LOC105372629
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 GeneticVariation BEFREE Combined analysis of both phases demonstrated association between HNF4A P2 SNPs (rs1884613 and rs2144908) and type 2 diabetes in the Ashkenazim (n = 991; P < 1.6 x 10(-6)). 18728231 2008
dbSNP: rs1800961
rs1800961
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASDB Common variants at 30 loci contribute to polygenic dyslipidemia. 19060906 2009
dbSNP: rs1800961
rs1800961
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASCAT Common variants at 30 loci contribute to polygenic dyslipidemia. 19060906 2009
dbSNP: rs1800961
rs1800961
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0428472
Disease:
Serum HDL cholesterol measurement 		T 0.700 GeneticVariation GWASDB Common variants at 30 loci contribute to polygenic dyslipidemia. 19060906 2009