JAG1, jagged canonical Notch ligand 1, 182

N. diseases: 420; N. variants: 63
Disease: Craniosynostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.030 Biomarker disease BEFREE The present study was performed to determine if coding errors in Gli3, Ihh, Rab23, or Jag1 could be causally linked to craniosynostosis in this unique animal model. 29437519 2018
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.030 PosttranslationalModification disease BEFREE We show that inactivation of Jagged1 in the mesodermal compartment of the coronal suture, but not in the neural crest compartment, results in craniosynostosis. 20727876 2010
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.030 GeneticVariation disease BEFREE The finding of a conserved form of craniosynostosis in two unrelated patients with Alagille syndrome and mutations in Jagged1 may indicate that Jagged1 plays a role in cranial suture formation. 12244552 2002