×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Causes of hearing impairment in the Norwegian paediatric cochlear implant program.
20553101
2010
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Cx26 deafness: mutation analysis and clinical variability.
10544226
1999
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients.
12081719
2002
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Infant hearing loss and connexin testing in a diverse population.
18580690
2008
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.
14694360
2004
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Comprehensive diagnostic battery for evaluating sensorineural hearing loss in children.
21131880
2011
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.
26749107
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
12560944
2003
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment.
24774219
2014
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.
12865758
2004
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
The structural context of disease-causing mutations in gap junctions.
16864573
2006
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.
19125024
2009
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
12172394
2002
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
14985372
2004
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness.
12792423
2003
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG.
20815033
2010
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia.
20708129
2010
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
GJB2 mutations and degree of hearing loss: a multicenter study.
16380907
2005
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.
25288386
2014
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.
26749107
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
[Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness].
22567861
2012
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854).
21738759
2011
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes.
23266159
2013
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent.
20381175
2010
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Connexin mutations in deafness.
9716127
1998