Gene: GJB2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 GeneticVariation disease CLINVAR A genotype-phenotype correlation for GJB2 (connexin 26) deafness. 14985372 2004
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 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 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 GeneticVariation disease CLINVAR A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness. 14676473 2004
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 CausalMutation disease CLINVAR A novel hearing-loss-related mutation occurring in the GJB2 basal promoter. 17660464 2007
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 CausalMutation disease 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 		0.700 GeneticVariation disease 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 		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 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 Asymmetric configurations and N-terminal rearrangements in connexin26 gap junction channels. 21094651 2011
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease 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 		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 CausalMutation disease CLINVAR Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846 2015
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846 2015
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 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 Clinical presentation of DFNB1. 12408072 2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease 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 		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 UNIPROT Connexin 26 gene linked to a dominant deafness. 9620796 1998
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