Gene: GJB2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 CausalMutation disease CLINVAR
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 Biomarker disease HPO
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE These observations suggest that the DFNB1 locus may make an important contribution to autosomal recessive neurosensory deafness in a Caucasian population. 7668291 1995
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE This suggests that different mutations in NSRD1 may cause both dominant and recessive neurosensory deafness. 7881423 1994
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE A severe autosomal recessive form of neurosensory deafness has been linked to the same region (locus NSRD1) which is now contained in a 7 Mb YAC contig. 8677023 1996
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. 9139825 1997
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE Connexin-26 mutations in sporadic and inherited sensorineural deafness. 9482292 1998
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE Mutations in the connexin 26 (Cx26) gene (GJB2) are associated with the type of autosomal recessive nonsyndromic neurosensory deafness known as "DFNB1." 9529365 1998
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE Alterations of the Cx26 gene account for a large proportion of cases of congenital non-syndromic sensorineural deafness, so it seems appropriate to extend the molecular analysis even to subjects with mild or moderate prelingual hearing impairment of unknown cause. 10544226 1999
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findings. 10596881 1999
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). 10633135 2000
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE Mutations in one gene, GJB2, coding for connexin 26 cause 10%-20% of all genetic sensorineural hearing loss. 10830906 2000
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness. 10874298 2000
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT. 10903123 2000
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. 11134236 2001
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE The mutilating keratoderma associated with sensorineural hearing loss is thought to have an etiologic basis, resting on a mutation of the GJB2 gene, which encodes the gap junction protein connexin26 (Cx26). 11174420 2001
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763 2001
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss. 11354642 2001
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. 11439000 2001
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE More than 20 mutations in the GJB2 gene are associated with DFNB1, a prevalent type of autosomal recessive non-syndromic neurosensory deafness. 11603757 2000
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE The 35delG mutation in the connexin 26 gene (GJB2) at the DFNB1 locus is the most common mutation in patients with autosomal-recessive sensorineural deafness. 11846738 2001
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness. 11960582 2001
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss. 11968091 2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 Biomarker disease BEFREE Cx26 has been implicated in dominant (DFNA3) and recessive (DFNB1) forms of nonsyndromic sensorineural deafness. 12064630 2001