NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.010 GeneticVariation disease BEFREE Herein, we present a patient with Alagille syndrome caused by a mutation in NOTCH2 with a hepatic adenoma. 29516774 2018