Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
0.450 Biomarker disease BEFREE DFNA2 nonsyndromic hearing loss is characterized by symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all frequencies. 29739174 2018
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
0.450 GeneticVariation disease BEFREE This study was therefore performed to elucidate the genetic characteristics of Korean patients with nonsyndromic sensorineural hearing loss and to determine the pathological mechanism of hearing loss by analyzing the intercellular communication function of Cx30 and Cx31 variants. 22617145 2013
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
0.450 GeneticVariation disease BEFREE Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria. 15276679 2004
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
0.450 GeneticVariation disease BEFREE Distinct germline mutations in the gene (GJB3) encoding connexin 31 (Cx31) underlie the skin disease erythrokeratoderma variabilis (EKV) or sensorineural hearing loss with/without peripheral neuropathy. 12165562 2002
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
0.450 Biomarker disease CTD_human We report here a dominant mutation in the GJB3 gene (D66del) in a family affected with peripheral neuropathy and sensorineural hearing impairment. 11309368 2001
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
0.450 GeneticVariation disease BEFREE We report here a dominant mutation in the GJB3 gene (D66del) in a family affected with peripheral neuropathy and sensorineural hearing impairment. 11309368 2001
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
0.450 Biomarker disease HPO