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: C0008370
Disease: Cholestasis
Cholestasis
0.310 GeneticVariation disease BEFREE We conclude that to detect HNF1B variants, neonates with cholestasis should be checked for the presence of renal cysts, with special focus on those who are born small for their gestational age. 25741167 2015
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.310 Biomarker disease GENOMICS_ENGLAND Therefore, heterozygous HNF1B deficiency is associated with ciliary anomalies in cholangiocytes, and this may cause cholestasis. 22706971 2012