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: C0011053
Disease: Deafness
Deafness 		0.310 GeneticVariation LHGDN Our findings revealed a unique phenotype with highly penetrant deafness, posterior embryotoxon, and congenital heart defects but with variable expressivity in a large kindred, which demonstrates that mutation in JAG1 can cause hearing loss. 12022040

2002
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0011053
Disease: Deafness
Deafness 		0.310 Biomarker CTD_human Our findings revealed a unique phenotype with highly penetrant deafness, posterior embryotoxon, and congenital heart defects but with variable expressivity in a large kindred, which demonstrates that mutation in JAG1 can cause hearing loss. 12022040

2002