HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Disease: Choledochal Cyst ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008340
Disease: Choledochal Cyst
Choledochal Cyst 		0.020 GeneticVariation disease BEFREE When searching for HNF1B/17q12 rearrangements among children with biliary atresia and/or choledochal cysts, we identified a male proband carrying a 17q12 duplication spanning 1698 kb that included 24 genes from TBC1D3C to HNF1B. 28940454 2018
CUI: C0008340
Disease: Choledochal Cyst
Choledochal Cyst 		0.020 Biomarker disease BEFREE The malignant potential of HNF1B-associated choledochal cysts warrants further studies. 28324003 2017