HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Disease: Agenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000846
Disease: Agenesis
Agenesis 		0.020 GeneticVariation disease BEFREE The association between pancreatic agenesis and a TCF2 mutation has not previously been reported. 24382792 2014
CUI: C0000846
Disease: Agenesis
Agenesis 		0.020 GeneticVariation disease BEFREE In maturity-onset diabetes mellitus of the young (MODY), mutations in HNF1B result in aplasia of pancreatic body and tail, and mutations in CEL lead to lipomatosis. 22124438 2011