HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
0.330 Biomarker disease BEFREE To evaluate the clinical characteristics of probands referred for HNF1B genetic testing through a nationwide monogenic diabetes screening programme. 31825128 2019
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
0.330 GeneticVariation disease BEFREE Variants of HNF1B and the K-ATP channel genes were more frequently involved in MgD than previously reported. 31291970 2019
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
0.330 GeneticVariation disease BEFREE Hepatocyte transforming factor 1B-maturity onset diabetes mellitus of the young (HNF1B-MODY) is an autosomal dominant type of monogenic diabetes caused by a mutation in the gene encoding hepatocyte nuclear factor 1beta (HNF-1beta). 25754277 2015
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
0.330 Biomarker disease GENOMICS_ENGLAND