×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
Biomarker
disease
CTD_human
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
CausalMutation
disease
CLINVAR
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.
9336442
1997
×
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
CausalMutation
disease
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
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
Connexin 26 gene linked to a dominant deafness.
9620796
1998
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
CausalMutation
disease
CLINVAR
Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.
10501520
1999
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
CausalMutation
disease
CLINVAR
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
10376574
1999
×
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
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
0.700
CausalMutation
disease
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
0.700
GeneticVariation
disease
CLINVAR
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
10982180
2000
×
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
UNIPROT
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
11313763
2001
×
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
CausalMutation
disease
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
0.700
GeneticVariation
disease
UNIPROT
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
11439000
2001
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
11313763
2001
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
CausalMutation
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 gene mutations in congenitally deaf children: pitfalls for genetic counseling.
11493200
2001
×
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
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
CLINVAR
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
12189493
2002