Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker CLINGEN Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma. 26620415

2016
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker CLINGEN A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. 27137747

2016
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker CLINGEN Novel mutations in GJB6 and GJB2 in Clouston syndrome. 25808784

2015
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker CLINGEN 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
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker CLINGEN We identified a recurrent heterozygous mutation c.31G>C (p.Gly11Arg) in the GJB6 gene in the Lebanese-German family with Clouston syndrome. 23219093

2013
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker CLINGEN Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss. 19416251

2009
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker CLINGEN A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis. 18717672

2008
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker CLINGEN Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan. 17259707

2007
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker CLINGEN Nevertheless, screening of GJB6 revealed a heterozygous missense mutation (V37E) predicted to alter sequence and charge of the first transmembrane helix of Cx30, which was previously implicated in Clouston syndrome (Smith et al, 2002). 15140211

2004
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker CLINGEN Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome. 11874494

2002
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker CLINGEN Mutations in GJB6 cause hidrotic ectodermal dysplasia. 11017065

2000
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker CLINGEN Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. 10471490

1999