HNF1A, HNF1 homeobox A, 6927

N. diseases: 292; N. variants: 105
Disease: Monogenic diabetes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 GeneticVariation disease BEFREE A decision algorithm to identify patients with high probability of monogenic diabetes due to HNF1A mutations. 30778899 2019
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 GeneticVariation disease BEFREE In one of the first studies of human pancreatic islets with a disease-causing HNF1A variant associated with the most common form of monogenic diabetes, we found that HNF1A dysfunction leads to insulin-insufficient diabetes reminiscent of T1D by impacting the regulatory processes critical for glucose-stimulated insulin secretion and suggest a rationale for a therapeutic alternative to current treatment. 30507613 2019
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 GeneticVariation disease BEFREE Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A. 31374199 2019
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 GeneticVariation disease BEFREE Maturity onset diabetes of the young due to <i>HNF1A</i> mutations (HNF1A-MODY) is the most frequent form of monogenic diabetes in adults. 29666556 2018
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 GeneticVariation disease BEFREE Rare variants in the HNF1A gene can cause monogenic diabetes, while common variants confer type 2 diabetes risk. 30143652 2018
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 Biomarker disease BEFREE Post-hoc analysis revealed significant differences in mean glucose to creatinine ratio change between type 2 diabetes and each monogenic diabetes in response to dapagliflozin (p = 0.02, p = 0.003 for HNF1-A and GCK MODY, respectively), but not between the two MODY forms (p = 0.7231). 28593615 2017
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 GeneticVariation disease BEFREE Structure-function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes. 26853433 2016
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 GeneticVariation disease BEFREE A high frequency of MD from mutations in GCK/HNF1α may be identified among pediatric diabetic patients originally considered to have T1D by performing genetic testing on those patients with multiple clinical risk factors for MD. 25082184 2015
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 Biomarker disease CLINGEN Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. 24309898 2014
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 GeneticVariation disease BEFREE In our cohort of patients fulfilling strict clinical criteria for MODY, 12% carried an HNF1A gene mutation, suggesting that defects of this gene are responsible for a significant proportion of monogenic diabetes in the Greek population. 23517481 2013
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 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
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 GeneticVariation disease BEFREE Inactivating mutations in HNF1A and HNF4A cause the maturity-onset diabetes of youth (MODY)-3 and MODY1 forms of monogenic diabetes, respectively. 22802087 2012
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 GeneticVariation disease BEFREE Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene. 20546258 2010
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 Biomarker disease BEFREE HNF1A is a frequent cause of monogenic diabetes, albeit with early-onset. 19490620 2009
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 GeneticVariation disease BEFREE Hepatocyte nuclear factor-1 alpha (HNF1A) gene mutations are the commonest cause of monogenic diabetes, but patients are often misdiagnosed as having Type 1 diabetes and started on insulin treatment. 19388975 2009
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 CausalMutation disease CLINVAR Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype. 19150152 2009
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 CausalMutation disease 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
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 GeneticVariation disease BEFREE Some other forms of monogenic diabetes associated with impaired function of the beta-cell, such as MODY3 and PNDM linked to mutations in Kir6.2 and SUR1 genes, can be successfully managed by sulphonylurea agents. 17488343 2008
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 Biomarker disease CLINGEN A conditional model reveals that induction of hepatocyte nuclear factor-1alpha in Hnf1alpha-null mutant beta-cells can activate silenced genes postnatally, whereas overexpression is deleterious. 16873682 2006
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 AlteredExpression disease BEFREE Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes. 16760222 2006
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 CausalMutation disease CLINVAR Homeodomain revisited: a lesson from disease-causing mutations. 15726414 2005
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 Biomarker disease CLINGEN Control of pancreas and liver gene expression by HNF transcription factors. 14988562 2004
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 CausalMutation disease 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
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 Biomarker disease CLINGEN This animal model of maturity-onset diabetes of the young 3 should be useful for the further elucidation of the mechanism by which HNF-1 alpha deficiency causes beta-cell dysfunction in this disease. 11713231 2001
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 CausalMutation disease CLINVAR Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. 11058894 2000