×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.
11493200
2001
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.
16222667
2005
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
CausalMutation
disease
CLINVAR
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.
9285800
1997
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
Biomarker
disease
GENOMICS_ENGLAND
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
31160754
2019
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
CausalMutation
disease
CLINVAR
De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.
11354642
2001
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Detection of mutations in genes associated with hearing loss using a microarray-based approach.
16931589
2006
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
CausalMutation
disease
CLINVAR
Detection of mutations in genes associated with hearing loss using a microarray-based approach.
16931589
2006
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome.
20650534
2010
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
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
0.700
GeneticVariation
disease
CLINVAR
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
17041943
2006
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.
20096356
2010
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
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
0.700
GeneticVariation
disease
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
0.700
GeneticVariation
disease
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
0.700
CausalMutation
disease
CLINVAR
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.
9856479
1998
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
CausalMutation
disease
CLINVAR
Functional study of GJB2 in hereditary hearing loss.
12352684
2002
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions.
16217030
2005
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
24949729
2014
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).
11102979
2000
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States.
12925341
2003
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
CausalMutation
disease
CLINVAR
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
12172392
2002
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
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
0.700
GeneticVariation
disease
CLINVAR
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
15967879
2005
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
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
0.700
GeneticVariation
disease
CLINVAR
GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.
26043044
2015