×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.100
GeneticVariation
disease
BEFREE
The purpose of this study was to investigate the frequency and the features of GJB2 mutations in the Chinese patients with congenital sensorineural deafness .
15603707
2004
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.100
Biomarker
disease
BEFREE
There was no statistical difference between patients with and without GJB2 -related congenital sensorineural hearing loss with regard to open-set and closed-set speech recognition performance at 12, 24, and 36 months after cochlear implantation.Surgical complications were uncommon.
15280719
2004
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.100
Biomarker
disease
BEFREE
Recently, it has been demonstrated that connexin 26 (GJB2 ) gene is a major gene for congenital sensorineural deafness .
10713883
2000
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.100
GeneticVariation
disease
BEFREE
Of 52 sequential probands referred for congenital sensorineural hearing loss , 22 (42%) were found to have GJB2 mutations.
10376574
1999
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.100
Biomarker
disease
BEFREE
Mutations in the gap junction protein connexin 26 (Cx26 ) gene (GJB2 ) seem to account for many cases of congenital sensorineural hearing impairment , the reported prevalence being 34-50% in autosomal recessive cases and 10-37% in sporadic cases.
10544226
1999
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.100
Biomarker
disease
HPO
×
Entrez Id:
3735
Gene Symbol:
KARS1
KARS1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
6870
Gene Symbol:
TACR3
TACR3
0.100
Biomarker
disease
HPO
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
0.100
Biomarker
disease
HPO
×
Entrez Id:
9394
Gene Symbol:
HS6ST1
HS6ST1
0.100
Biomarker
disease
HPO
×
Entrez Id:
3814
Gene Symbol:
KISS1
KISS1
0.100
Biomarker
disease
HPO
×
Entrez Id:
2253
Gene Symbol:
FGF8
FGF8
0.100
Biomarker
disease
HPO
×
Entrez Id:
65217
Gene Symbol:
PCDH15
PCDH15
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
124590
Gene Symbol:
USH1G
USH1G
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
3730
Gene Symbol:
ANOS1
ANOS1
0.100
Biomarker
disease
HPO
×
Entrez Id:
286676
Gene Symbol:
ILDR1
ILDR1
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
8942
Gene Symbol:
KYNU
KYNU
0.100
Biomarker
disease
HPO
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
0.100
Biomarker
disease
HPO
×
Entrez Id:
3766
Gene Symbol:
KCNJ10
KCNJ10
0.100
Biomarker
disease
HPO
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
0.100
Biomarker
disease
HPO
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
79955
Gene Symbol:
PDZD7
PDZD7
0.100
Biomarker
disease
HPO
×
Entrez Id:
6591
Gene Symbol:
SNAI2
SNAI2
0.100
Biomarker
disease
HPO
×
Entrez Id:
2299
Gene Symbol:
FOXI1
FOXI1
0.100
Biomarker
disease
HPO
×
Entrez Id:
2796
Gene Symbol:
GNRH1
GNRH1
0.100
Biomarker
disease
HPO