NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

By Ryan McDaniell, D. Warthen, P. Sanchez-Lara, A. Pai, Ian D. Krantz, D. Piccoli, N. Spinner. American Journal of Human Genetics, 2006

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Organogenesis and development of the liver. (2010, background): “The Notch signaling pathway was also suspected of contributing to biliary development based on the finding that patients affected with Alagille syndrome, a polymalformative disease with bile duct paucity, had mutations in the JAGGED1 and NOTCH2 genes (Li et al., 1997; Oda et al., 1997; McDaniell et ”
Notch signaling: simplicity in design, versatility in function (2011, background): “In human, haploinsufficiency of NOTCH2 or jagged 1 (JAG1), which encodes a Notch ligand, is observed in Alagille syndrome (McDaniell et al., 2006), a broad-spectrum syndrome characterized by liver, heart and eye defects as well as vertebral malformations (Alagille et al., 1987; Alagille et al.,…”
The developmental genetics of congenital heart disease (2008, background): “More recently, mutations in the gene NOTCH2 have also been identified in families with Alagille syndrom”