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: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		AC 0.700 GeneticVariation CLINVAR Hearing loss associated with an unusual mutation combination in the gap junction beta 2 (GJB2) gene in a Chinese family. 24503448 2014
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		AC 0.700 GeneticVariation CLINVAR Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations. 23418865 2013
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		AC 0.700 GeneticVariation CLINVAR Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss. 23638949 2013
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760 2013
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		AC 0.700 CausalMutation CLINVAR The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study. 22695344 2012
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		AC 0.700 GeneticVariation CLINVAR The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study. 22695344 2012
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		AC 0.700 CausalMutation CLINVAR Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study. 22384008 2012
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR Vestibular dysfunction in DFNB1 deafness. 21465647 2011
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		AC 0.700 CausalMutation CLINVAR Low prevalence of GJB2 mutations in non-syndromic hearing loss in Western India. 23120683 2010
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia. 20739944 2010
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		AC 0.700 GeneticVariation CLINVAR A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis. 20639189 2010
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG. 20815033 2010
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		AC 0.700 CausalMutation CLINVAR A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis. 20639189 2010
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history? 20073550 2010
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		AC 0.700 GeneticVariation CLINVAR GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment. 19366456 2009
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency. 19925344 2009
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		AC 0.700 CausalMutation CLINVAR GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment. 19366456 2009
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		AC 0.700 GeneticVariation CLINVAR Etiologic and audiologic evaluations after universal neonatal hearing screening: analysis of 170 referred neonates. 18519481 2008
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates. 18294064 2007
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR GJB2 mutations: passage through Iran. 15666300 2005
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		AC 0.700 GeneticVariation CLINVAR GJB2 mutations and degree of hearing loss: a multicenter study. 16380907 2005
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR Mutation analysis of the GJB2 (connexin 26) gene in Egypt. 15954104 2005
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR Molecular epidemiology of DFNB1 deafness in France. 15070423 2004
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. 12172392 2002
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR Hearing loss: frequency and functional studies of the most common connexin26 alleles. 12176036 2002