×
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
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
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
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
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
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
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 RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
A large cohort study of GJB2 mutations in Japanese hearing loss patients.
20497192
2010
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness.
17428836
2007
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
25388846
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
24949729
2014
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs pediatric populations.
22785241
2012
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Frequency of GJB2 and del(GJB6-D13S1830) mutations among an Ecuadorian mestizo population.
25085072
2014
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations.
22592158
2012
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
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 RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss.
26553399
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.
19366456
2009
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
26896187
2016