Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker BEFREE At diagnosis of pediatric diabetes, absence of all islet autoantibodies and modest hyperglycemia (HbA<sub>1c</sub> <7.5% [58 mmol/mol]) should result in testing for GCK, HNF1A, and HNF4A MODY. 31704690

2020

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker CTD_human Improvement of hyperglycemia in a murine model of insulin resistance and high glucose- and inflammasome-mediated IL-1β expressions in macrophages by silymarin. 29753610

2018

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker BEFREE A MODY 3 foetus needs a near-normal maternal glycemic control, because the exposure to intrauterine hyperglycemia can lead to an earlier age of diabetes onset. 26997508

2016

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker BEFREE Hyperglycemia in HNF-1α pregnancies is easily managed with current insulin protocols; in contrast, glycemic excursions are difficult to manage in GCK pregnancies. 25935773

2015

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 CausalMutation CLINVAR Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital. 25414397

2014

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 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

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 AlteredExpression BEFREE In contrast, mutations in the genes encoding the transcription factors HNF1A and HNF4A cause a progressive insulin secretory defect and hyperglycaemia that can lead to vascular complications. 23878349

2013

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker BEFREE The appearance of fasting hyperglycaemia following rhGH treatment in children with renal cystic hypodysplasia suggests that investigation of the HNF1 beta gene is warranted, even when familial history is negative for diabetes. 20543213

2010

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation BEFREE We confirmed the effects of environmental and genetic factors known to modify the age at HNF1A-MODY diagnosis, namely intrauterine hyperglycemia (-5.1 years if present, P = 1.6 x 10(-10)) and HNF1A mutation position (-5.2 years if at least two isoforms affected, P = 1.8 x 10(-2)). 19794065

2010

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation BEFREE MODY1 and MODY3 mutations may interact by chance to give a more severe form of diabetes (younger age at presentation and early need of insulin therapy to control hyperglycemia). 20705777

2010

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 CausalMutation CLINVAR Human Splicing Finder: an online bioinformatics tool to predict splicing signals. 19339519

2009

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 CausalMutation CLINVAR Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype. 19150152

2009

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 CausalMutation CLINVAR The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. 18003757

2008

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation BEFREE We genetically analyzed four families of young children with fasting hyperglycemia with family histories of diabetes for mutations in the genes for hepatocyte nuclear factor 4 alpha (HNF4alpha), glucokinase (GCK), and hepatocyte nuclear factor 1 alpha (HNF1alpha), the genes responsible for MODY1, MODY2, and MODY3, respectively. 16444761

2006

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation BEFREE The adjusted odds ratio (OR) and 95% confidence interval for Type 2 diabetes among subjects who carried the HNF1A G319S mutation and had the modified metabolic syndrome (excluding hyperglycaemia) was 20.3 (6.94, 59.6). 16241915

2005

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 CausalMutation CLINVAR Homeodomain revisited: a lesson from disease-causing mutations. 15726414

2005

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation BEFREE HNF-1alpha gene mutations (MODY3) present with marked hyperglycemia in lean young adults and may, therefore, be mistaken for type 1 diabetes, with implications for individual treatment and risk of diabetes in other family members. 12547858

2003

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 CausalMutation CLINVAR Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect. 12453976

2002

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 CausalMutation CLINVAR Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences. 11463573

2001

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 CausalMutation CLINVAR beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. 11272211

2001

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 CausalMutation CLINVAR Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. 11058894

2000

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 CausalMutation CLINVAR Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations. 10585442

1999

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 CausalMutation CLINVAR A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes. 9439666

1997

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 CausalMutation CLINVAR Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. 9032114

1997

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 CausalMutation CLINVAR Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. 9075818

1997