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: 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
dbSNP: rs104894414
rs104894414
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		A 0.800 CausalMutation CLINVAR Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. 10471490 1999
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		T 0.700 CausalMutation CLINVAR Immune system disturbances in Clouston syndrome. 26551294 2016
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		T 0.700 CausalMutation CLINVAR A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia. 24514865 2014
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		T 0.700 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: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		T 0.700 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: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		T 0.700 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: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		T 0.700 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: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		T 0.700 CausalMutation CLINVAR Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. 15213106 2004
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		T 0.700 CausalMutation CLINVAR Mutations in GJB6 cause hidrotic ectodermal dysplasia. 11017065 2000
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		T 0.700 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: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		T 0.700 CausalMutation CLINVAR A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. 12788524 2003
dbSNP: rs28937872
rs28937872
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		A 0.700 CausalMutation CLINVAR Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. 15213106 2004
dbSNP: rs28937872
rs28937872
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		A 0.700 CausalMutation CLINVAR Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia. 23863883 2013
dbSNP: rs28937872
rs28937872
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		A 0.700 CausalMutation CLINVAR A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. 27137747 2016
dbSNP: rs28937872
rs28937872
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		A 0.700 CausalMutation CLINVAR Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies. 24522190 2014
dbSNP: rs28937872
rs28937872
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		A 0.700 CausalMutation CLINVAR Functional studies of human skin disease- and deafness-associated connexin 30 mutations. 12419304 2002
dbSNP: rs28937872
rs28937872
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		A 0.700 CausalMutation CLINVAR Clouston syndrome can mimic pachyonychia congenita. 14708603 2003
dbSNP: rs28937872
rs28937872
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		A 0.700 CausalMutation CLINVAR Mutations in GJB6 cause hidrotic ectodermal dysplasia. 11017065 2000
dbSNP: rs28937872
rs28937872
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		A 0.700 CausalMutation CLINVAR The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice. 24685692 2014
dbSNP: rs780320724
rs780320724
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		A 0.700 CausalMutation CLINVAR Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan. 17259707 2007
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		T 0.700 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: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		T 0.700 CausalMutation CLINVAR Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. 15213106 2004
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		T 0.700 CausalMutation CLINVAR Mutations in GJB6 cause hidrotic ectodermal dysplasia. 11017065 2000
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		T 0.700 CausalMutation CLINVAR [A gene study of a family with hidrotic ectodermal dysplasia]. 27817781 2016