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: rs72561723
rs72561723
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		T 0.700 GeneticVariation CLINVAR The clinical features of patients with the homozygous 235delC and the compound-heterozygous Y136X/G45E of the GJB2 mutations (Connexin 26) in cochlear implant recipients. 21292415 2011
dbSNP: rs72561723
rs72561723
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		T 0.700 GeneticVariation CLINVAR Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness. 17428836 2007
dbSNP: rs72561723
rs72561723
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		T 0.700 GeneticVariation CLINVAR A novel mechanism for connexin 26 mutation linked deafness: cell death caused by leaky gap junction hemichannels. 17146396 2006
dbSNP: rs72561723
rs72561723
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		T 0.700 GeneticVariation CLINVAR Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. 16950989 2006
dbSNP: rs72561723
rs72561723
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		T 0.700 GeneticVariation CLINVAR GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. 12560944 2003
dbSNP: rs72561723
rs72561723
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		T 0.700 GeneticVariation CLINVAR Prevalent connexin 26 gene (GJB2) mutations in Japanese. 10633133 2000
dbSNP: rs72561723
rs72561723
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		T 0.700 GeneticVariation CLINVAR Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness. 10501520 1999