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 		A 0.800 CausalMutation CLINVAR Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. 10471490 1999
dbSNP: rs28937872
rs28937872
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		0.740 GeneticVariation BEFREE That said, the Cx30 p.Ala88Val (A88V) mutant causes Clouston syndrome, but not hearing loss. 30559251 2019
dbSNP: rs28937872
rs28937872
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		A 0.740 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: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		0.740 GeneticVariation BEFREE The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice. 24685692 2014
dbSNP: rs28937872
rs28937872
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		0.740 GeneticVariation BEFREE Lastly, the A88V mutant, which is linked to the development of Clouston syndrome, also significantly induced apoptosis but through an endoplasmic-reticulum-independent mechanism. 24522190 2014
dbSNP: rs28937872
rs28937872
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		A 0.740 CausalMutation CLINVAR The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice. 24685692 2014
dbSNP: rs28937872
rs28937872
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		A 0.740 CausalMutation CLINVAR Lastly, the A88V mutant, which is linked to the development of Clouston syndrome, also significantly induced apoptosis but through an endoplasmic-reticulum-independent mechanism. 24522190 2014
dbSNP: rs28937872
rs28937872
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		A 0.740 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: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		A 0.740 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: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		0.740 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: rs28937872
rs28937872
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		A 0.740 CausalMutation CLINVAR 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: rs28937872
rs28937872
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		A 0.740 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: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		A 0.740 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 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 gene study of a family with hidrotic ectodermal dysplasia]. 27817781 2016
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
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		T 0.700 CausalMutation CLINVAR Immune system disturbances in Clouston syndrome. 26551294 2016
dbSNP: rs28937872
rs28937872
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		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 A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. 27137747 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: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		T 0.700 CausalMutation CLINVAR A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia. 24514865 2014
dbSNP: rs28937872
rs28937872
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		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 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: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		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: 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