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 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 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 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 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 CausalMutation disease CLINVAR [A gene study of a family with hidrotic ectodermal dysplasia]. 27817781 2016
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 CausalMutation disease CLINVAR 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 CausalMutation disease CLINVAR Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis. 15769851 2005
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 CausalMutation disease CLINVAR G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family. 20536673 2010
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 CausalMutation disease CLINVAR Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. 15213106 2004
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 CausalMutation disease CLINVAR Immune system disturbances in Clouston syndrome. 26551294 2016
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 CausalMutation disease CLINVAR Mutations in GJB6 cause hidrotic ectodermal dysplasia. 11017065 2000
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 CausalMutation disease CLINVAR Clouston syndrome can mimic pachyonychia congenita. 14708603 2003
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 CausalMutation disease CLINVAR Functional studies of human skin disease- and deafness-associated connexin 30 mutations. 12419304 2002
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 CausalMutation disease CLINVAR 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 CausalMutation disease CLINVAR 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