Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		0.300 Biomarker CTD_human Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1. 12022040

2002
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		0.300 Biomarker CTD_human Mutations in the human Jagged1 gene are responsible for Alagille syndrome. 9207787

1997
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		0.300 Biomarker CTD_human Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. 9207788

1997