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 Biomarker disease BEFREE Subjects which were neither MODY2 nor MODY3 (MODY-X) had a higher fasting glucose than subjects in the other groups. 10754480 2000
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation disease BEFREE Recently, hepatocyte nuclear factor-1alpha(HNF-1alpha, which is encoded by the TCF1 gene) mutations were reported in a subset of patients with maturity onset diabetes of the young (MODY3). 9840451 1998
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 Biomarker disease BEFREE Can complement factors 5 and 8 and transthyretin be used as biomarkers for MODY 1 (HNF4A-MODY) and MODY 3 (HNF1A-MODY)? 18513302 2008
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 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 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 GeneticVariation disease BEFREE Mutations in the transcription factor hepatocyte nuclear factor-1alpha (HNF-1alpha; gene symbol TCF1) cause maturity-onset diabetes of the young type 3 (MODY3), a form of diabetes mellitus characterized by autosomal dominant inheritance, early onset, and pancreatic beta-cell dysfunction. 11668618 2001
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
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
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation disease BEFREE The reverse tetracycline-dependent transactivator system was employed in insulinoma INS-1 cells to achieve controlled inducible expression of hepatocyte nuclear factor-1 alpha (HNF1 alpha)-P291fsinsC, the most common mutation associated with subtype 3 of maturity-onset diabetes of the young (MODY3). 10944108 2000
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 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 Biomarker disease BEFREE Germline mutations in hepatocyte nuclear factor 1alpha (TCF1/HNF-1alpha) are associated with maturity-onset diabetes of the young type 3 (MODY3), and somatic biallelic inactivations of the gene are found in hepatocellular adenomas and liver adenomatosis. 14598263 2003
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 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 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 Biomarker disease BEFREE Although the HNF-1alpha-null mice have an average life span of 1 year, the severe liver phenotype has thwarted attempts to study the pathogenesis of maturity-onset diabetes of the young type 3 (MODY3) and to examine therapeutic strategies for diabetes prevention and treatment in these mice. 12529398 2003
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
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
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation disease BEFREE We have examined 10 unrelated Caucasian families in which MODY/NIDDM co-segregated with markers for MODY3 for mutations in the HNF-1alpha gene (TCF1). 9097962 1997
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 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
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 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 GeneticVariation disease BEFREE A spectrum of HNF1A somatic mutations significantly differed from the germline changes in MODY3. 20393147 2010