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) 		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) 		A 0.700 CausalMutation CLINVAR Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. 9328482 1997
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
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 Prevalent connexin 26 gene (GJB2) mutations in Japanese. 10633133 2000
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 Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. 9819448 1998
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) 		A 0.700 CausalMutation CLINVAR High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. 10713883 2000
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. 9336442 1997
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR Connexin-26 mutations in sporadic and inherited sensorineural deafness. 9482292 1998
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 in the midwestern United States for GJB2 mutations causing inherited deafness. 10376574 1999
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 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) 		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) 		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) 		A 0.700 CausalMutation CLINVAR Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. 9600457 1998
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR Cx26 deafness: mutation analysis and clinical variability. 10544226 1999
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR On the origin and frequency of the 35delG allele in GJB2-linked deafness in Europe. 11313751 2001
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) 		A 0.700 CausalMutation CLINVAR Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. 9285800 1997
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 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) 		AC 0.700 CausalMutation CLINVAR Hearing loss: frequency and functional studies of the most common connexin26 alleles. 12176036 2002