Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice. 20858605

2010

Entrez Id: 10804
Gene Symbol: GJB6
GJB6
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD ATP release through connexin hemichannels and gap junction transfer of second messengers propagate Ca2+ signals across the inner ear. 19047635

2008

Entrez Id: 10804
Gene Symbol: GJB6
GJB6
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness. 17227867

2007

Entrez Id: 10804
Gene Symbol: GJB6
GJB6
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD Connexin30 deficiency causes instrastrial fluid-blood barrier disruption within the cochlear stria vascularis. 17400755

2007

Entrez Id: 10804
Gene Symbol: GJB6
GJB6
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential. 12490528

2003