Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 GeneticVariation disease BEFREE For example, the HNF4A c.340C>T (p.Arg114Trp) (GenBank: NM_175914.4) variant associated with diabetes is <10% penetrant by the time an individual is 40 years old. 30665703 2019
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 Biomarker disease BEFREE Mutations in the genes encoding the pancreatic K<sub>ATP</sub> channels can also lead to different types of diabetes (including neonatal diabetes mellitus (NDM) and Maturity Onset Diabetes of the Young, MODY), and defects in the solute carrier family 2 member 2 (<i>SLC2A2</i>) leads to diabetes mellitus as part of the Fanconi-Bickel syndrome. 31137773 2019
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 GeneticVariation disease BEFREE We here identified a missense mutation (c.773G>A, p.R258H) of HNF4A in a mother and daughter with early-onset diabetes and impaired insulin secretion. 30325586 2019
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 GeneticVariation disease BEFREE HNF4α (hepatocyte nuclear factor 4α) is one of the master regulators of pancreatic β-cell development and function, and mutations in the <i>HNF4</i>α gene are well-known monogenic causes of diabetes. 31362984 2019
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 Biomarker disease BEFREE Unilateral renal agenesis and abrupt onset diabetes: an unfrequent form of MODY type diabetes. 29525113 2019
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 Biomarker disease BEFREE Monogenic forms of diabetes like MODY and neonatal diabetes have paved the way for precision medicine in diabetes, as carriers of unique mutations require unique treatment. 30403316 2019
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 GeneticVariation disease BEFREE Furthermore, studies of N-glycan alterations have successfully been used to identify individuals with rare types of diabetes (such as the HNF1A-MODY), and also to evaluate functional significance of novel diabetes-associated mutations. 31215021 2019
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 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
0.100 GeneticVariation disease BEFREE Most (6/7) patients with HNF4A variants rapidly failed TODAY treatment across study arms (hazard ratio = 5.03, P = 0.0002), while none with GCK variants failed treatment.ConclusionThe finding of 4.5% of patients with monogenic diabetes in an overweight/obese cohort of children and adolescents with T2D suggests that monogenic diabetes diagnosis should be considered in children and adolescents without diabetes-associated autoantibodies and maintained C-peptide, regardless of BMI, as it may direct appropriate clinical management. 29758564 2018
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 Biomarker disease BEFREE Subjects (N = 97) with diabetes onset ≤age 25, measurable C-peptide (≥0.1 ng/mL), and negative for all four diabetes autoantibodies were enrolled at a large academic center and tested for MODY 1-5 through Athena Diagnostics. 29355436 2018
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 Biomarker disease BEFREE In those with HNF1A/HNF4A-MODY, a shorter diabetes duration, lower HbA<sub>1c</sub> and lower BMI at genetic diagnosis predicted successful treatment with sulfonylurea/diet alone, supporting the need for early genetic diagnosis and treatment change. 30229274 2018
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 Biomarker disease BEFREE Eleven children with asymptomatic hyperglycemia and clinically suspected GCK-MODY were identified from the database of children with diabetes in the biggest children's hospital in South China. 29510678 2018
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 GeneticVariation disease BEFREE We examined a total of 275 subjects having diabetes suspected to be MODY who were negative for mutations in MODY1-5 referred from 155 medical institutions throughout Japan. 28664602 2018
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 Biomarker disease BEFREE Accurate genetic diagnosis directs management, such as no pharmacologic treatment for GCK-MODY, low-dose sulfonylureas for HNF1A-MODY and HNF4A-MODY, and high-dose sulfonylureas for K<sub>ATP</sub> channel-related diabetes. 29450745 2018
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 GeneticVariation disease BEFREE Association of MODY genetic variants with diabetes incidence at a median of 3 years and measures of 1-year β-cell function, insulinogenic index, and oral disposition index. 28453780 2017
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 AlteredExpression disease BEFREE Rats with STZ-induced diabetes who received GWBR supplementation exhibited decreased expression of sodium-dependent glucose transporter 1 (SGLT1) and glucose transporter (GLUT) 2 genes and proteins in the small intestine via decreases in hepatocyte nuclear factor (HNF)-1α, HNF-1β, and HNF-4α, transcriptional factors that are involved in the regulation of SGLT1 and GLUT2, compared with the rats with STZ-induced diabetes that did not receive GWBR supplements. 29093331 2017
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 Biomarker disease BEFREE We aimed to find the prevalence of MODY in a nationwide population-based registry of childhood diabetes. 27913849 2017
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 Biomarker disease BEFREE MODY is an early-onset monogenic form of diabetes. 28132100 2017
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 GeneticVariation disease BEFREE However, there are minimal data available on MODY gene variants in pregnant women with diabetes from India. 28095440 2017
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 GeneticVariation disease BEFREE These results suggest that functional characterization of variants within MODY genes may overcome the limitations of bioinformatics tools for the purposes of presymptomatic diabetes risk prediction in the general population. 27899486 2017
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 GeneticVariation disease BEFREE A total of 40 individuals with diabetes (1.8% of early onset sub-group and 0.6% of adult onset sub-group) were carriers of known pathogenic missense variants in the GCK, HNF1A, HNF4A, ABCC8, and INS genes. 29207974 2017
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 GeneticVariation disease BEFREE In children and adolescents with diabetes, the presence of 2 risk alleles (DR3 and/or DR4) reduces the probability of MODY diagnosis, whereas the lack of risk alleles increases it. 28052112 2017
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 AlteredExpression disease BEFREE Finally, we show that hepatocyte nuclear factor 4 alpha (HNF-4α) plays a key role in controlling hepatic CES2 expression in diabetes, obesity, or NASH. 26806650 2016
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 GeneticVariation disease BEFREE Mutations in HNF4α cause Mature-Onset Diabetes of the Young I (MODYI), a subset of diabetes characterized by diminished GSIS. 26792861 2016
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.100 GeneticVariation disease 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