HNF1A, HNF1 homeobox A, 6927

N. diseases: 292; N. variants: 105
Disease: Congenital Hyperinsulinism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.150 GeneticVariation disease BEFREE Recent advances in genetics have linked CHI to mutations in 9 genes that play a key role in regulating insulin secretion (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A and HNF1A). 26316429 2015
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.150 GeneticVariation disease BEFREE High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism. 26431509 2015
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.150 GeneticVariation disease BEFREE Mutations in eight genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A and HNF1A) are known to cause CHI. 23345197 2013
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.150 Biomarker disease BEFREE 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: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.150 GeneticVariation disease BEFREE Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. 22802087 2012
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.150 Biomarker disease HPO