Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 182
Gene Symbol: JAG1
JAG1
0.310 GeneticVariation phenotype 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
0.310 Biomarker phenotype 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