JAG1, jagged canonical Notch ligand 1, 182

N. diseases: 420; N. variants: 63
Disease: Deafness, Congenital Heart Defects, and Posterior Embryotoxon ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866053
Disease: Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Deafness, Congenital Heart Defects, and Posterior Embryotoxon 		0.600 GeneticVariation disease UNIPROT Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614 2010
CUI: C1866053
Disease: Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Deafness, Congenital Heart Defects, and Posterior Embryotoxon 		0.600 GeneticVariation disease CLINVAR Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614 2010
CUI: C1866053
Disease: Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Deafness, Congenital Heart Defects, and Posterior Embryotoxon 		0.600 GeneticVariation disease UNIPROT 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
CUI: C1866053
Disease: Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Deafness, Congenital Heart Defects, and Posterior Embryotoxon 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1866053
Disease: Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Deafness, Congenital Heart Defects, and Posterior Embryotoxon 		0.600 CausalMutation disease CLINVAR