JAG1, jagged canonical Notch ligand 1, 182

N. diseases: 420; N. variants: 63
Disease: Hepatic ductular hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2930797
Disease: Hepatic ductular hypoplasia
Hepatic ductular hypoplasia 		0.310 Biomarker disease CTD_human Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. 21532573 2011
CUI: C2930797
Disease: Hepatic ductular hypoplasia
Hepatic ductular hypoplasia 		0.310 AlteredExpression disease BEFREE The strong JAGGED1 expression during human embryo- and feto-genesis both in the vascular system and in other mesenchymal and epithelial tissues implicates abnormal angiogenesis in the pathogenesis of Alagille syndrome and particularly the paucity of interlobular bile ducts. 10960452 2000
CUI: C2930797
Disease: Hepatic ductular hypoplasia
Hepatic ductular hypoplasia 		0.310 Biomarker disease CTD_human Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. 9207788 1997
CUI: C2930797
Disease: Hepatic ductular hypoplasia
Hepatic ductular hypoplasia 		0.310 Biomarker disease CTD_human Mutations in the human Jagged1 gene are responsible for Alagille syndrome. 9207787 1997