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: rs104894416
rs104894416
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		T 0.830 CausalMutation CLINVAR
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C2675235
Disease:
Deafness, Autosomal Recessive 1b 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894415
rs104894415
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C1844678
Disease:
Progressive hearing loss stapes fixation 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1566538321
rs1566538321
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C3711374
Disease:
Nonsyndromic Deafness 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs772862268
rs772862268
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C3711374
Disease:
Nonsyndromic Deafness 		A 0.700 GeneticVariation 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
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: 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: 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: 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: C2675237
Disease:
Deafness, Autosomal Dominant 3B 		T 0.700 CausalMutation CLINVAR Mutations in GJB6 cause hidrotic ectodermal dysplasia. 11017065 2000
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 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 Mutations in GJB6 cause hidrotic ectodermal dysplasia. 11017065 2000
dbSNP: rs189971962
rs189971962
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C1384666
Disease:
hearing impairment 		0.010 GeneticVariation BEFREE Mutations in the connexin26 gene were found in 30 patients (22%) with profound to severe hearing impairment whereas only one novel single nucleotide polymorphism (396G-->A) in the connexin30 gene was detected. 11385713 2001
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 		T 0.830 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 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 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: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		T 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: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		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 Functional studies of human skin disease- and deafness-associated connexin 30 mutations. 12419304 2002