×
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
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
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
26896187
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.
27169813
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.
27247933
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.
26444186
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.
26763877
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
A Mayan founder mutation is a common cause of deafness in Guatemala.
26346709
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province.
27534436
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients.
26778469
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
26896187
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.
27623246
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
25388846
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
A new compound heterozygous mutation in GJB2 causes nonsyndromic hearing loss in a consanguineous Iranian family.
25708704
2015
×
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
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
CausalMutation
CLINVAR
Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.
26096904
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43.
25625422
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
The deafness-causing mutation c.508_511dup in the GJB2 gene and a literature review.
25891447
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Prevalence of 35delG and Met34Thr GJB2 variants in Portuguese samples.
26482070
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Correlation analysis of phenotype and genotype of GJB2 in patients with non-syndromic hearing loss in China.
26095810
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan.
25636251
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.
26397989
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene.
26088551
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India.
26188157
2015