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 GeneticVariation disease CLINVAR GJB2 and mitochondrial DNA 1555A>G mutations in students with hearing loss in the Hubei Province of China. 21777984 2011
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR Vestibular dysfunction in DFNB1 deafness. 21465647 2011
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR Multiple effects of childhood deafness on cortical activity in children receiving bilateral cochlear implants simultaneously. 21094084 2011
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 Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26. 21040787 2011
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 CausalMutation disease CLINVAR Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss. 20863150 2011
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 CLINVAR Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30. 20096356 2010
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome. 20650534 2010
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods. 20234132 2010
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2. 20022641 2010
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients. 19715472 2009
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 GeneticVariation disease UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972 2009
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 [Mutation of Gap junction protein beta 2 gene and treatment outcome of cochlear implantation in cochlear implantation recipients]. 19567088 2009
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR GJB2 mutations in Baluchi population. 18776652 2008
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 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 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 Molecular genetics study of deafness in Brazil: 8-year experience. 17567887 2007
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 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 CausalMutation disease CLINVAR M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. 17935238 2007
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria. 17485979 2007