GJB6, gap junction protein beta 6, 10804

N. diseases: 176; N. variants: 14
Disease: Hidrotic Ectodermal Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease CLINVAR Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. 16950989 2006
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease BEFREE We have generated a new mouse line expressing the Clouston syndrome mutation Cx30A88V under the control of the endogenous Cx30 promoter. 24685692 2014
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease BEFREE Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome. 11874494 2002
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease UNIPROT Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome. 11874494 2002
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease UNIPROT Mutations in GJB6 cause hidrotic ectodermal dysplasia. 11017065 2000
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease BEFREE The Clouston syndrome (MIM129500) is associated with mutations in GJB6 (connexin30). 15245427 2004
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease BEFREE A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. 12788524 2003
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease BEFREE 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
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease BEFREE Novel mutations in GJB6 and GJB2 in Clouston syndrome. 25808784 2015
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease BEFREE Sequencing of connexin 30 (GJB6 gene) in these patients identified heterozygous missense mutations G11R and A88V that are known to be associated with Clouston syndrome. 14708603 2003
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease BEFREE 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
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease BEFREE A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. 27137747 2016
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease CLINVAR Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. 25262649 2014
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease BEFREE The other case presented is that of a family with Clouston syndrome (caused by p.Gly11Arg mutation in GJB6), who are the first reported patients of Polish origin suffering from this disorder. 25575739 2015
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease BEFREE Clouston syndrome and eccrine syringofibroadenoma are uncommon disorders that have been reported together rarely and only before the discovery of the GJB6 gene for Clouston syndrome. 19318801 2009
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease BEFREE Mutations in connexin 30 are correlated with Clouston syndrome. 23675785 2014
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease BEFREE That said, the Cx30 p.Ala88Val (A88V) mutant causes Clouston syndrome, but not hearing loss. 30559251 2019
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker disease CTD_human
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker disease CLINGEN Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. 10471490 1999
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker disease GENOMICS_ENGLAND Expression of the gap-junction connexins 26 and 30 in the rat cochlea. 9799458 1998
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker disease CLINGEN Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma. 26620415 2016
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker disease MGD We have generated a new mouse line expressing the Clouston syndrome mutation Cx30A88V under the control of the endogenous Cx30 promoter. 24685692 2014
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker disease CLINGEN Mutations in GJB6 cause hidrotic ectodermal dysplasia. 11017065 2000
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker disease CLINGEN A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. 27137747 2016
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker disease CLINGEN A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis. 18717672 2008