GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777236559
rs777236559
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972 2009
dbSNP: rs777236559
rs777236559
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation UNIPROT A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. 12786758 2003
dbSNP: rs777236559
rs777236559
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation UNIPROT Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. 12668604 2003
dbSNP: rs777236559
rs777236559
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation UNIPROT Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763 2001
dbSNP: rs777236559
rs777236559
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation UNIPROT Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. 11439000 2001
dbSNP: rs777236559
rs777236559
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation UNIPROT A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. 10807696 2000
dbSNP: rs777236559
rs777236559
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation UNIPROT Connexin 26 gene linked to a dominant deafness. 9620796 1998