Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
1.000 GeneticVariation disease UNIPROT Here we show that subjects with the MODY3-form of NIDDM have mutations in the gene encoding hepatocyte nuclear factor-1alpha (HNF-1alpha, which is encoded by the gene TCF1). 8945470 1996
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
1.000 GeneticVariation disease BEFREE Here we show that subjects with the MODY3-form of NIDDM have mutations in the gene encoding hepatocyte nuclear factor-1alpha (HNF-1alpha, which is encoded by the gene TCF1). 8945470 1996
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
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: 6927
Gene Symbol: HNF1A
HNF1A
1.000 GeneticVariation disease BEFREE Heterozygous germline mutations of TCF1 have been identified in individuals affected with maturity-onset diabetes of the young type 3 (MODY3; ref.3). 12355088 2002
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
1.000 CausalMutation disease CLINVAR High frequency of mutations in the HNF-1alpha gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance. 12488961 2002
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
1.000 GeneticVariation disease BEFREE Human mutations in its prototypical member HNF1A cause maturity-onset diabetes of the young (MODY) type 3. 29109103 2017
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
1.000 CausalMutation disease CLINVAR Human Splicing Finder: an online bioinformatics tool to predict splicing signals. 19339519 2009
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
1.000 GeneticVariation disease UNIPROT Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins. 10078571 1999
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
1.000 CausalMutation disease CLINVAR Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins. 10078571 1999
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
1.000 Biomarker disease 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
1.000 GeneticVariation disease BEFREE In humans mutations in the HNF1 gene are responsible for one form of maturity onset diabetes of the young (MODY3). 12530534 2002
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
1.000 Biomarker disease MGD Laron dwarfism and non-insulin-dependent diabetes mellitus in the Hnf-1alpha knockout mouse. 9566924 1998
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
1.000 GeneticVariation disease UNIPROT Linkage and molecular scanning analyses of MODY3/hepatocyte nuclear factor-1 alpha gene in typical familial type 2 diabetes: evidence for novel mutations in exons 8 and 10. 9626139 1998
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
1.000 CausalMutation disease 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
1.000 GeneticVariation disease UNIPROT Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY. 10588527 1999
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
1.000 GeneticVariation disease UNIPROT Mutation screening in 18 Caucasian families suggest the existence of other MODY genes. 9754819 1998
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
1.000 GeneticVariation disease BEFREE Mutations in HNF-1 alpha cause maturity-onset diabetes of the young (MODY) type 3, which is the most prevalent MODY subtype in most countries. 16202877 2005
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
1.000 GeneticVariation disease BEFREE Mutations in HNF1α gene are frequently associated with maturity-onset diabetes of the young type 3 (MODY3) and hepatocellular adenomas. 29101032 2018
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
1.000 GeneticVariation disease UNIPROT Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. 17573900 2007
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
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: 6927
Gene Symbol: HNF1A
HNF1A
1.000 GeneticVariation disease BEFREE Mutations in the hepatocyte nuclear factor-1alpha (HNF-1alpha) gene are the cause of maturity-onset diabetes of the young type 3 (MODY 3), which is characterized by a severe impairment of insulin secretion and early onset of the disease. 10634407 2000
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
1.000 GeneticVariation disease UNIPROT 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
1.000 CausalMutation disease 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
1.000 GeneticVariation disease UNIPROT 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
1.000 GeneticVariation disease UNIPROT Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM. 9287053 1997