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 Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. 11493200 2001
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 Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. 9285800 1997
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 Biomarker disease GENOMICS_ENGLAND Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 31160754 2019
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 CausalMutation disease CLINVAR De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss. 11354642 2001
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 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 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 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 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 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 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 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 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 CausalMutation disease CLINVAR Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. 9856479 1998
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 CausalMutation disease CLINVAR Functional study of GJB2 in hereditary hearing loss. 12352684 2002
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 Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. 24949729 2014
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 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 GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. 12172392 2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico. 25288386 2014
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 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 GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss. 26043044 2015