Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation disease BEFREE Maturity-onset diabetes of the young type 3 (MODY 3) is a consequence of heterozygous germline mutations in HNF1A, and a subtype of hepatocellular adenoma (HCA) is caused by biallelic somatic HNF1A mutations; rare HCA may be related to MODY 3. 31754975 2020
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 Biomarker disease BEFREE To elucidate the pathology of MODY, we established MODY3 patient-derived iPS (MODY3-iPS) cells using non-integrating Sendai virus (SeV) vector and examined the mutant mRNA and protein of HNF1A (Hepatocyte Nuclear factor 1A) after pancreatic lineage differentiation. 31145732 2019
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation disease BEFREE A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations. 29222740 2018
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
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
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation disease BEFREE Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 3 (MODY3) carrying a hepatocyte nuclear factor 1-alpha (HNF1A) mutation. 29597128 2018
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
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
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation disease BEFREE Human mutations in its prototypical member HNF1A cause maturity-onset diabetes of the young (MODY) type 3. 29109103 2017
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation disease BEFREE We developed a transgenic cloned pig (founder, male) carrying a mutant gene, i.e., human HNF-1α (P291fsinsC), which is responsible for maturity-onset diabetes of the young type 3. 28254450 2017
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation disease BEFREE The HNF1A variant p.Ala180Val does not seem to cause MODY3, although it may confer risk for type 2 diabetes mellitus. 28934671 2017
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation disease BEFREE Over the past years, several studies have reported the association of missense mutations in the Hepatocyte Nuclear Factor 1 Alpha (HNF1A) with MODY3. 28410371 2017
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation disease BEFREE Divergent phenotypes in siblings with identical novel mutations in the HNF-1α gene leading to maturity onset diabetes of the young type 3. 27142837 2016
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
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
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 Biomarker disease BEFREE Because little is known about incretin function in patients with MODY, we studied the incretin effect and hormone responses to oral and intravenous glucose loads in patients with glucokinase (GCK)-diabetes (MODY2) and hepatocyte nuclear factor 1α (HNF1A)-diabetes (MODY3), respectively, and in matched healthy control subjects. 24677712 2014
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation disease BEFREE A single rare missense variant (c.1522G>A [p.E508K]) was associated with type 2 diabetes prevalence (odds ratio [OR], 5.48; 95% CI, 2.83-10.61; P = 4.4 × 10(-7)) in hepatocyte nuclear factor 1-α (HNF1A), the gene responsible for maturity onset diabetes of the young type 3 (MODY3). 24915262 2014
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation disease BEFREE Carriers of both GCK and HNF1A mutations manifested a typical MODY 3 phenotype and showed that the presence of a second mutation in the GCK gene apparently did not modify the clinical outcome, at least at the time of this study. 23009393 2013
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
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
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation disease BEFREE The described family demonstrates a novel HNF1A mutation associated with both benign and malignant primary liver cell tumours and MODY3. 23707370 2013
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation disease BEFREE Hepatocyte nuclear factor 1 alpha (HNF1A) mutations cause maturity-onset diabetes of the young (MODY) type 3. 23616187 2013
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
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
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation disease BEFREE The spectrum of HNF1A gene mutations in Greek patients with MODY3: relative frequency and identification of seven novel germline mutations. 23517481 2013
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation disease BEFREE Maturity-onset diabetes of the young type 3 (MODY3) is caused by heterozygous mutation in the HNF1A gene. 22672869 2012
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 Biomarker disease GENOMICS_ENGLAND Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. 22802087 2012
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 Biomarker disease BEFREE Seventy-one DPV patients were labelled as HNF1A-MODY (MODY3). 21224407 2011
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 Biomarker disease BEFREE HNF1A-MODY (MODY3) is a common subtype of autosomal dominant diabetes. 21648289 2011
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation disease BEFREE The diagnosis of maturity-onset diabetes of the young type 3 (MODY3), associated with HNF1A molecular abnormalities, is often missed. 21677039 2011