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 Detection of mutations in genes associated with hearing loss using a microarray-based approach. 16931589 2006
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. 16950989 2006
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. 17041943 2006
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 CausalMutation disease CLINVAR Detection of mutations in genes associated with hearing loss using a microarray-based approach. 16931589 2006
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf. 16222667 2005
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 CausalMutation disease CLINVAR GJB2 mutations: passage through Iran. 15666300 2005
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 CausalMutation disease CLINVAR The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. 16059934 2005
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 CausalMutation disease CLINVAR Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. 15617550 2005
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. 15967879 2005
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR GJB2 mutations and degree of hearing loss: a multicenter study. 16380907 2005
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions. 16217030 2005
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR GJB2: the spectrum of deafness-causing allele variants and their phenotype. 15365987 2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 CausalMutation disease CLINVAR Molecular epidemiology of DFNB1 deafness in France. 15070423 2004
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 CLINVAR A genotype-phenotype correlation for GJB2 (connexin 26) deafness. 14985372 2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 CausalMutation disease CLINVAR GJB2: the spectrum of deafness-causing allele variants and their phenotype. 15365987 2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. 12865758 2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease UNIPROT Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. 12668604 2003
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness. 12792423 2003
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 GeneticVariation disease CLINVAR Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness. 12910486 2003
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States. 12925341 2003
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 CausalMutation disease CLINVAR Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness. 12505163 2003
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