Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Causes of hearing impairment in the Norwegian paediatric cochlear implant program. 20553101

2010
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Cx26 deafness: mutation analysis and clinical variability. 10544226

1999
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients. 12081719

2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Infant hearing loss and connexin testing in a diverse population. 18580690

2008
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene. 14694360

2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Comprehensive diagnostic battery for evaluating sensorineural hearing loss in children. 21131880

2011
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis. 26749107

2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. 12560944

2003
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment. 24774219

2014
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 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: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR The structural context of disease-causing mutations in gap junctions. 16864573

2006
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling. 19125024

2009
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation 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: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR A genotype-phenotype correlation for GJB2 (connexin 26) deafness. 14985372

2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 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: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG. 20815033

2010
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia. 20708129

2010
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR GJB2 mutations and degree of hearing loss: a multicenter study. 16380907

2005
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 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: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis. 26749107

2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR [Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness]. 22567861

2012
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854). 21738759

2011
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes. 23266159

2013
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent. 20381175

2010
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Connexin mutations in deafness. 9716127

1998