GJB6, gap junction protein beta 6, 10804

N. diseases: 176; N. variants: 14
Disease: DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2673761
Disease: DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) 		0.500 Biomarker disease 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
CUI: C2673761
Disease: DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) 		0.500 Biomarker disease MGD ATP release through connexin hemichannels and gap junction transfer of second messengers propagate Ca2+ signals across the inner ear. 19047635 2008
CUI: C2673761
Disease: DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) 		0.500 Biomarker disease MGD Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness. 17227867 2007
CUI: C2673761
Disease: DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) 		0.500 Biomarker disease MGD Connexin30 deficiency causes instrastrial fluid-blood barrier disruption within the cochlear stria vascularis. 17400755 2007
CUI: C2673761
Disease: DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) 		0.500 Biomarker disease MGD Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential. 12490528 2003
CUI: C2673761
Disease: DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) 		0.500 Biomarker disease CTD_human