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: rs730880338
rs730880338
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		TA 0.700 CausalMutation CLINVAR Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases. 24158611 2013
dbSNP: rs730880338
rs730880338
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		TA 0.700 CausalMutation CLINVAR GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort. 23039283 2012
dbSNP: rs730880338
rs730880338
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		TA 0.700 CausalMutation CLINVAR GJB2 mutations and degree of hearing loss: a multicenter study. 16380907 2005
dbSNP: rs730880338
rs730880338
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		TA 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: rs730880338
rs730880338
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		TA 0.700 CausalMutation CLINVAR Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. 10218527 1999