Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. 11493200

2001
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 CausalMutation 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 Biomarker 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 CausalMutation 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR Detection of mutations in genes associated with hearing loss using a microarray-based approach. 16931589

2006
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 CausalMutation CLINVAR Detection of mutations in genes associated with hearing loss using a microarray-based approach. 16931589

2006
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome. 20650534

2010
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30. 20096356

2010
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 CausalMutation 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 CausalMutation CLINVAR Functional study of GJB2 in hereditary hearing loss. 12352684

2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. 24949729

2014
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States. 12925341

2003
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 CausalMutation CLINVAR GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. 12172392

2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss. 26043044

2015