GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894401
rs104894401
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.800 GeneticVariation CLINVAR Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations. 26397989 2015
dbSNP: rs104894401
rs104894401
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.800 GeneticVariation CLINVAR Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome. 23856378 2013
dbSNP: rs104894401
rs104894401
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.800 GeneticVariation CLINVAR Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes. 22991996 2013
dbSNP: rs104894401
rs104894401
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.800 GeneticVariation CLINVAR Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26. 21040787 2011
dbSNP: rs104894401
rs104894401
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.800 GeneticVariation CLINVAR Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30. 20096356 2010
dbSNP: rs104894401
rs104894401
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.800 GeneticVariation CLINVAR Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients. 19715472 2009
dbSNP: rs104894401
rs104894401
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972 2009
dbSNP: rs104894402
rs104894402
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972 2009
dbSNP: rs104894406
rs104894406
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972 2009
dbSNP: rs104894407
rs104894407
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972 2009
dbSNP: rs104894413
rs104894413
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972 2009
dbSNP: rs28931595
rs28931595
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972 2009
dbSNP: rs80338950
rs80338950
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972 2009
dbSNP: rs104894401
rs104894401
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.800 GeneticVariation CLINVAR High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria. 17485979 2007
dbSNP: rs104894401
rs104894401
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.800 GeneticVariation CLINVAR Molecular genetics study of deafness in Brazil: 8-year experience. 17567887 2007
dbSNP: rs104894401
rs104894401
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.800 GeneticVariation CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888 2007
dbSNP: rs104894401
rs104894401
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.800 GeneticVariation CLINVAR Detection of mutations in genes associated with hearing loss using a microarray-based approach. 16931589 2006
dbSNP: rs104894401
rs104894401
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 GeneticVariation UNIPROT A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. 12786758 2003
dbSNP: rs104894401
rs104894401
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 GeneticVariation UNIPROT Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. 12668604 2003
dbSNP: rs104894402
rs104894402
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 GeneticVariation UNIPROT A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. 12786758 2003
dbSNP: rs104894402
rs104894402
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 GeneticVariation UNIPROT Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. 12668604 2003
dbSNP: rs104894406
rs104894406
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 GeneticVariation UNIPROT Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. 12668604 2003
dbSNP: rs104894406
rs104894406
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 GeneticVariation UNIPROT A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. 12786758 2003
dbSNP: rs104894407
rs104894407
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 GeneticVariation UNIPROT Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. 12668604 2003
dbSNP: rs104894407
rs104894407
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 GeneticVariation UNIPROT A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. 12786758 2003