×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
Biomarker
CTD_human
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
CausalMutation
CLINVAR
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.
9336442
1997
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
CausalMutation
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
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
CausalMutation
CLINVAR
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.
9328482
1997
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
CausalMutation
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
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
UNIPROT
Connexin 26 gene linked to a dominant deafness.
9620796
1998
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
CausalMutation
CLINVAR
Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.
10501520
1999
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
CausalMutation
CLINVAR
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
10376574
1999
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
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
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
UNIPROT
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.
10807696
2000
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
CausalMutation
CLINVAR
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.
10713883
2000
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
10982180
2000
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
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
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
UNIPROT
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
11313763
2001
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
CausalMutation
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
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
CausalMutation
CLINVAR
Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.
11584050
2001
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
UNIPROT
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
11439000
2001
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
11313763
2001
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
CausalMutation
CLINVAR
Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.
11493200
2001
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.
11493200
2001
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
Hearing loss: frequency and functional studies of the most common connexin26 alleles.
12176036
2002
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
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 DOMINANT 3A (disorder)
0.700
CausalMutation
CLINVAR
Functional study of GJB2 in hereditary hearing loss.
12352684
2002
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700
GeneticVariation
CLINVAR
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
12189493
2002