Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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 GeneticVariation CLINVAR A genotype-phenotype correlation for GJB2 (connexin 26) deafness. 14985372

2004

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 CausalMutation 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
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation 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
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 GeneticVariation CLINVAR A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness. 14676473

2004

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation 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
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 CausalMutation CLINVAR A novel hearing-loss-related mutation occurring in the GJB2 basal promoter. 17660464

2007

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 CausalMutation CLINVAR A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. 18472371

2008

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation CLINVAR Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss. 19371219

2009

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation 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
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 CLINVAR Asymmetric configurations and N-terminal rearrangements in connexin26 gap junction channels. 21094651

2011

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation CLINVAR Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations. 19235794

2009

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 CausalMutation CLINVAR Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846

2015

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation CLINVAR Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846

2015

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 CausalMutation 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
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation CLINVAR Clinical presentation of DFNB1. 12408072

2002

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation CLINVAR Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han. 25266519

2014

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation 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
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 Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. 11493200

2001