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 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 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 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 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 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 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 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 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 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 UNIPROT Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763 2001
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 CLINVAR GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss. 26043044 2015
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 Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression. 12189493 2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR Unique spectrum of GJB2 mutations in Mexico. 22925408 2012
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation. 25401782 2014
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 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 CLINVAR Clinical presentation of DFNB1. 12408072 2002
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 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 Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. 26444186 2016
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 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 Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846 2015