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: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.320 Biomarker disease BEFREE Thus, patients typically develop MODY5 but not neonatal diabetes despite exhibiting pancreatic hypoplasia. 26876668 2016
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.320 GeneticVariation disease BEFREE Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development. 17116179 2006
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.320 Biomarker disease GENOMICS_ENGLAND