HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Disease: Cholestasis in newborn ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn 		0.030 Biomarker disease BEFREE A strong significant statistical difference between BA and NC group (P<0.0001) with regard to Hnf1β and FoxA2 immunoexpression was evident. 29406331 2019
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn 		0.030 GeneticVariation disease BEFREE Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review. 25741167 2015
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn 		0.030 GeneticVariation disease BEFREE In this report, we found a novel missense mutation in the HNF-1 beta gene in a patient with neonatal cholestasis and liver dysfunction together with the common features of MODY5. 15001636 2004