×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
GJB2 and mitochondrial DNA 1555A>G mutations in students with hearing loss in the Hubei Province of China.
21777984
2011
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
Vestibular dysfunction in DFNB1 deafness.
21465647
2011
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
Multiple effects of childhood deafness on cortical activity in children receiving bilateral cochlear implants simultaneously.
21094084
2011
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
Asymmetric configurations and N-terminal rearrangements in connexin26 gap junction channels.
21094651
2011
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26.
21040787
2011
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
CausalMutation
CLINVAR
Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss.
20863150
2011
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia.
19929407
2010
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.
20096356
2010
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome.
20650534
2010
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods.
20234132
2010
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.
20022641
2010
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients.
19715472
2009
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations.
19235794
2009
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
UNIPROT
Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.
19384972
2009
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.
19371219
2009
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
[Mutation of Gap junction protein beta 2 gene and treatment outcome of cochlear implantation in cochlear implantation recipients].
19567088
2009
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
GJB2 mutations in Baluchi population.
18776652
2008
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
CausalMutation
CLINVAR
A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss.
18472371
2008
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
CausalMutation
CLINVAR
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.
18294064
2007
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
CausalMutation
CLINVAR
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
17666888
2007
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
Molecular genetics study of deafness in Brazil: 8-year experience.
17567887
2007
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
CausalMutation
CLINVAR
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.
17660464
2007
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
17666888
2007
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
CausalMutation
CLINVAR
M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.
17935238
2007
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria.
17485979
2007