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 Clinical presentation of DFNB1. 12408072

2002
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 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness. 12792423

2003
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation 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
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 Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness. 12505163

2003
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: the spectrum of deafness-causing allele variants and their phenotype. 15365987

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 Molecular epidemiology of DFNB1 deafness in France. 15070423

2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness. 14676473

2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR A genotype-phenotype correlation for GJB2 (connexin 26) deafness. 14985372

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 GJB2: the spectrum of deafness-causing allele variants and their phenotype. 15365987

2004
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 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 GJB2 mutations: passage through Iran. 15666300

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 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 CausalMutation 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
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 mutations and degree of hearing loss: a multicenter study. 16380907

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 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 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 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
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 CausalMutation CLINVAR Detection of mutations in genes associated with hearing loss using a microarray-based approach. 16931589

2006