HNF1A, HNF1 homeobox A, 6927

N. diseases: 292; N. variants: 105
Disease: Hyperinsulinism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.030 AlteredExpression disease BEFREE Additionally, Western blotting and siHNF1A transfection analysis showed that insulin increased the protein expression of Albumin (ALB) and UDP-glucuronosyltransferase1A1 （UGT1A1 ） in hiHeps via HNF1A. 30950200 2019
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.030 GeneticVariation disease BEFREE HNF1A and HNF4A mutations were identified in 5.9% (12 out of 204; HNF1A = 7, HNF4A = 5) of diazoxide-responsive HI probands. 29493090 2018
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.030 GeneticVariation disease BEFREE Case 2 was diagnosed with diazoxide-responsive hyperinsulinism at 3 months of age and had complete resolution of hyperinsulinism by 4 yr. She was found to have a novel MODY3 HNF1A missense mutation, also carried by her father. 22802087 2012