Gene: GJB6 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 CausalMutation disease CLINVAR Immune system disturbances in Clouston syndrome. 26551294 2016
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 CausalMutation disease CLINVAR A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. 27137747 2016
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 CausalMutation disease CLINVAR [A gene study of a family with hidrotic ectodermal dysplasia]. 27817781 2016
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 CausalMutation disease CLINVAR The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice. 24685692 2014
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 CausalMutation disease CLINVAR A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia. 24514865 2014
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 CausalMutation disease CLINVAR Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies. 24522190 2014
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 CausalMutation disease CLINVAR [Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia]. 23926005 2013
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 CausalMutation disease CLINVAR Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia. 23863883 2013
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 CausalMutation disease CLINVAR Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia. 23981984 2013
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 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
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 Biomarker disease 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 		0.800 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
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 Biomarker disease MGD Connexin30 deficiency causes instrastrial fluid-blood barrier disruption within the cochlear stria vascularis. 17400755 2007
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 CausalMutation disease CLINVAR Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis. 15769851 2005
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 CausalMutation disease CLINVAR Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. 15213106 2004
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 CausalMutation disease CLINVAR A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. 12788524 2003
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 CausalMutation disease CLINVAR Clouston syndrome can mimic pachyonychia congenita. 14708603 2003
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 Biomarker disease MGD Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential. 12490528 2003
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 CausalMutation disease CLINVAR Functional studies of human skin disease- and deafness-associated connexin 30 mutations. 12419304 2002
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 CausalMutation disease CLINVAR Mutations in GJB6 cause hidrotic ectodermal dysplasia. 11017065 2000
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 Biomarker disease GENOMICS_ENGLAND Expression of the gap-junction connexins 26 and 30 in the rat cochlea. 9799458 1998
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.800 Biomarker disease CTD_human