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 HPO

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 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 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 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 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 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 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 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 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 Homeodomain revisited: a lesson from disease-causing mutations. 15726414

2005

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 Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM. 9313763

1997

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 In contrast, MODY1 and MODY3 are characterised by severe insulin secretory defects and major hyperglycaemia associated with microvascular complications. 9162575

1997

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 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 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 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 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

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 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 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 Biomarker BEFREE The MODY3 subtype of NIDDM is characterized by a severe insulin secretory defect and by major hyperglycemia that progresses rapidly to overt diabetes. 8875082

1996

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