GJB6, gap junction protein beta 6, 10804

N. diseases: 176; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		T 0.830 CausalMutation CLINVAR Immune system disturbances in Clouston syndrome. 26551294 2016
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		T 0.830 CausalMutation CLINVAR [A gene study of a family with hidrotic ectodermal dysplasia]. 27817781 2016
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		0.830 GeneticVariation 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
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		T 0.830 CausalMutation CLINVAR A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia. 24514865 2014
dbSNP: rs104894416
rs104894416
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		0.830 GeneticVariation BEFREE The loss-of-function V37E mutant associated with Clouston syndrome or keratitis-ichthyosis-deafness syndrome was retained in the endoplasmic reticulum and significantly induced apoptosis. 24522190 2014
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		T 0.830 CausalMutation 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
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		0.830 GeneticVariation 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
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		T 0.830 CausalMutation CLINVAR [Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia]. 23926005 2013
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		0.830 GeneticVariation 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
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		T 0.830 CausalMutation CLINVAR Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia. 23981984 2013
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		T 0.830 CausalMutation CLINVAR G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family. 20536673 2010
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		T 0.830 CausalMutation CLINVAR Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis. 15769851 2005
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		T 0.830 CausalMutation CLINVAR Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. 15213106 2004
dbSNP: rs104894416
rs104894416
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		0.830 GeneticVariation 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
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		T 0.830 CausalMutation CLINVAR A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. 12788524 2003
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		0.830 GeneticVariation 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
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		T 0.830 CausalMutation CLINVAR Functional studies of human skin disease- and deafness-associated connexin 30 mutations. 12419304 2002
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		0.830 GeneticVariation UNIPROT A novel connexin 30 mutation in Clouston syndrome. 11874494 2002
dbSNP: rs104894416
rs104894416
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		0.830 GeneticVariation 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
dbSNP: rs104894416
rs104894416
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		0.830 GeneticVariation 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
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		0.830 GeneticVariation UNIPROT Mutations in GJB6 cause hidrotic ectodermal dysplasia. 11017065 2000
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		T 0.830 CausalMutation CLINVAR Mutations in GJB6 cause hidrotic ectodermal dysplasia. 11017065 2000
dbSNP: rs104894416
rs104894416
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		0.830 GeneticVariation UNIPROT Mutations in GJB6 cause hidrotic ectodermal dysplasia. 11017065 2000
dbSNP: rs104894416
rs104894416
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		T 0.830 CausalMutation CLINVAR
dbSNP: rs104894414
rs104894414
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		0.800 GeneticVariation UNIPROT Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. 10471490 1999