×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
Biomarker
CTD_human
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
14985372
2004
×
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
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
UNIPROT
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.
10807696
2000
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness.
14676473
2004
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
UNIPROT
A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss.
12786758
2003
×
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
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
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
Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix.
23967136
2013
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).
11438992
2001
×
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
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
CausalMutation
CLINVAR
Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.
11584050
2001
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
CausalMutation
CLINVAR
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
25388846
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
25388846
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
CausalMutation
CLINVAR
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
10376574
1999
×
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
GeneticVariation
CLINVAR
Clinical presentation of DFNB1.
12408072
2002
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han.
25266519
2014
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.
23856378
2013
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
UNIPROT
Connexin 26 gene linked to a dominant deafness.
9620796
1998
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
CausalMutation
CLINVAR
Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.
11493200
2001