×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
Biomarker
disease
BEFREE
HNF4α is a culprit gene product for a monogenic and dominantly-inherited form of diabetes, referred to as MODY1 (Maturity Onset Diabetes of the Young type 1 ).
30648609
2019
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
GeneticVariation
disease
BEFREE
Hepatocyte nuclear factor 4α (HNF4α ) has an important role in pancreatic β-cells, and mutations of the human <i>HNF4A</i> gene cause a type of maturity-onset diabetes of the young (MODY1 ).
28364040
2017
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
CausalMutation
disease
CLINVAR
Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene.
28458902
2017
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
CausalMutation
disease
CLINVAR
Fainting Fanconi syndrome clarified by proxy: a case report.
28693455
2017
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
Biomarker
disease
GENOMICS_ENGLAND
Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation.
28242437
2017
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
CausalMutation
disease
CLINVAR
Characteristics of maturity onset diabetes of the young in a large diabetes center.
26059258
2016
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
CausalMutation
disease
CLINVAR
Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype.
27245055
2016
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
CausalMutation
disease
CLINVAR
Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction.
25819479
2015
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
CausalMutation
disease
CLINVAR
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
24285859
2014
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
Biomarker
disease
GENOMICS_ENGLAND
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
24285859
2014
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
CausalMutation
disease
CLINVAR
Clinical heterogeneity of abnormal glucose homeostasis associated with the HNF4A R311H mutation.
24947580
2014
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
CausalMutation
disease
CLINVAR
Multidomain integration in the structure of the HNF-4α nuclear receptor complex.
23485969
2013
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
CausalMutation
disease
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
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
Biomarker
disease
BEFREE
Here, we profiled metabolites in serum from patients with MODY1 (HNF4A ), MODY2 (GCK), MODY3 (HNF1A), and type 2 diabetes and from healthy individuals to characterize metabolic perturbations caused by specific mutations.
23139355
2013
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
GeneticVariation
disease
BEFREE
HNF-4α protein mutations are linked to maturity-onset diabetes of the young, type 1 (MODY1 ) and hyperinsulinaemic hypoglycaemia.
23485969
2013
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
GeneticVariation
disease
BEFREE
Detection and characterization of two novel mutations in the HNF4A gene in maturity-onset diabetes of the young type 1 in two Japanese families.
23652628
2013
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
GeneticVariation
disease
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
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
Biomarker
disease
GENOMICS_ENGLAND
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.
22802087
2012
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
CausalMutation
disease
CLINVAR
Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.
20164212
2010
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
Biomarker
disease
CTD_human
Identification of 9-cis-retinoic acid as a pancreas-specific autacoid that attenuates glucose-stimulated insulin secretion.
21115832
2010
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
GeneticVariation
disease
BEFREE
We recommend inclusion of exon 1E and nearby DNA sequences in screening for HNF4alpha mutations and polymorphisms in genetic analyses of MODY1 and T2DM.
19353766
2009
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
GeneticVariation
disease
BEFREE
Mutations in the HNF4alpha gene are associated with maturity onset diabetes of the young type 1 (MODY1 ).
20003313
2009
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
Biomarker
disease
BEFREE
Can complement factors 5 and 8 and transthyretin be used as biomarkers for MODY 1 (HNF4A-MODY ) and MODY 3 (HNF1A-MODY)?
18513302
2008
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
CausalMutation
disease
CLINVAR
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.
17407387
2007
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
1.000
GeneticVariation
disease
UNIPROT
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.
17407387
2007