×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
CausalMutation
disease
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
0.700
GeneticVariation
disease
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
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
CausalMutation
disease
CLINVAR
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
25388846
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
15365987
2004
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Hearing loss: frequency and functional studies of the most common connexin26 alleles.
12176036
2002
×
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
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
CausalMutation
disease
CLINVAR
Functional study of GJB2 in hereditary hearing loss.
12352684
2002
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
UNIPROT
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
12668604
2003
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
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
0.700
GeneticVariation
disease
CLINVAR
Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia.
19929407
2010
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
UNIPROT
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
11313763
2001
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness.
12792423
2003
×
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
×
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
GeneticVariation
disease
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
0.700
GeneticVariation
disease
CLINVAR
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
12189493
2002
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Unique spectrum of GJB2 mutations in Mexico.
22925408
2012
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
CausalMutation
disease
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
0.700
GeneticVariation
disease
CLINVAR
New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation.
25401782
2014
×
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
GeneticVariation
disease
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
0.700
GeneticVariation
disease
CLINVAR
Clinical presentation of DFNB1.
12408072
2002
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
UNIPROT
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.
10807696
2000