GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis. 26749107 2016
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 GeneticVariation CLINVAR Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening. 21912263 2011
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 GeneticVariation CLINVAR Multiple effects of childhood deafness on cortical activity in children receiving bilateral cochlear implants simultaneously. 21094084 2011
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations. 21287563 2011
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 GeneticVariation CLINVAR Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations. 21287563 2011
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR Multiple effects of childhood deafness on cortical activity in children receiving bilateral cochlear implants simultaneously. 21094084 2011
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 GeneticVariation CLINVAR Causes of hearing impairment in the Norwegian paediatric cochlear implant program. 20553101 2010
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity. 18758381 2008
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. 17935238 2007
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888 2007
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 GeneticVariation CLINVAR M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. 17935238 2007
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 GeneticVariation CLINVAR Temporal bone imaging in GJB2 deafness. 17146393 2006
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 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
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation 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
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR Detection of mutations in genes associated with hearing loss using a microarray-based approach. 16931589 2006
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf. 16222667 2005
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR Cellular mechanisms of mutant connexins in skin disease and hearing loss. 14681040 2004
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 GeneticVariation CLINVAR Cellular mechanisms of mutant connexins in skin disease and hearing loss. 14681040 2004
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 GeneticVariation CLINVAR Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene. 14694360 2004
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene. 14694360 2004
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR The M34T allele variant of connexin 26. 11216656 2000
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA). 11102979 2000
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 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
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 GeneticVariation CLINVAR Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. 10376574 1999