×
Entrez Id:
2707
Gene Symbol:
GJB3
GJB3
0.500
GeneticVariation
disease
CLINVAR
×
Entrez Id:
51168
Gene Symbol:
MYO15A
MYO15A
0.480
CausalMutation
disease
CLINVAR
×
Entrez Id:
51168
Gene Symbol:
MYO15A
MYO15A
0.480
GeneticVariation
disease
CLINVAR
×
Entrez Id:
65217
Gene Symbol:
PCDH15
PCDH15
0.440
GeneticVariation
disease
CLINVAR
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
0.200
GeneticVariation
disease
CLINVAR
×
Entrez Id:
84920
Gene Symbol:
ALG10
ALG10
0.200
Biomarker
disease
MGD
×
Entrez Id:
23262
Gene Symbol:
PPIP5K2
PPIP5K2
0.200
Biomarker
disease
MGD
×
Entrez Id:
113444
Gene Symbol:
SMIM12
SMIM12
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
71
Gene Symbol:
ACTG1
ACTG1
0.330
Biomarker
disease
CLINGEN
β-actin and γ-actin are each dispensable for auditory hair cell development but required for Stereocilia maintenance.
20976199
2010
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
0.100
GeneticVariation
disease
BEFREE
<b>Results:</b> 38.21% (120/314) of these 314 patients with nonsyndromic hearing loss from Heze area were related to the genetic defects in these three deafness genes, including 20.06% (63/314) for <i>GJB2</i>, 15.29% (48/314) for <i>SLC26A4 ,</i> and 2.87% (9/314) for <i>mtDNA12SrRNA</i>.
31107121
2019
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
0.010
Biomarker
disease
BEFREE
<i>NLRP3</i> mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.
28847925
2017
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
0.400
GeneticVariation
disease
BEFREE
(ii) MYO7A c.2187 + 2_+8 delTGAGCAC and p.Leu728Pro were related to nonsyndromic hearing loss .
30826590
2019
×
Entrez Id:
10518
Gene Symbol:
CIB2
CIB2
0.350
GeneticVariation
disease
BEFREE
Nonsyndromic deafness locus (DFNB48 ) segregating as an autosomal recessive trait has been mapped to the long arm of chromosome 15 in bands q23-q25.1 in five large Pakistani families.
15711797
2005
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
0.020
GeneticVariation
disease
BEFREE
Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous.
9360932
1997
×
Entrez Id:
1687
Gene Symbol:
GSDME
GSDME
0.050
GeneticVariation
disease
BEFREE
Nonsyndromic hearing impairment is associated with a mutation in DFNA5 .
9771715
1998
×
Entrez Id:
4646
Gene Symbol:
MYO6
MYO6
0.360
GeneticVariation
disease
BEFREE
MYO6 , the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss .
11468689
2001
×
Entrez Id:
4646
Gene Symbol:
MYO6
MYO6
0.360
Biomarker
disease
CLINGEN
MYO6 , the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss .
11468689
2001
×
Entrez Id:
337991
Gene Symbol:
DFNB38
DFNB38
0.010
GeneticVariation
disease
BEFREE
DFNB38 , a novel locus for autosomal recessive nonsyndromic hearing impairment , was localized in a consanguineous Pakistani kindred to 6q26-q27.
12890929
2003
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.100
GeneticVariation
disease
BEFREE
Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland.
14520102
2003
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.100
GeneticVariation
disease
BEFREE
Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss .
15064611
2004
×
Entrez Id:
286676
Gene Symbol:
ILDR1
ILDR1
0.340
GeneticVariation
disease
BEFREE
DFNB42 represents the third autosomal recessive NSHI locus to map to chromosome 3.
15641023
2005
×
Entrez Id:
64072
Gene Symbol:
CDH23
CDH23
0.390
Biomarker
disease
CLINGEN
CDH23 null alleles cause deaf-blindness (Usher syndrome type 1D; USH1D ), whereas missense mutations cause nonsyndromic deafness (DFNB12).
19270079
2009
×
Entrez Id:
5459
Gene Symbol:
POU4F3
POU4F3
0.360
GeneticVariation
disease
BEFREE
DFNA15 is the third cochleovestibular disorder, after DFNA9 and DFNA11, in the autosomal dominant nonsyndromic hearing impairment .
19372648
2009
×
Entrez Id:
286262
Gene Symbol:
TPRN
TPRN
0.340
GeneticVariation
disease
BEFREE
DFNB79 : reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.
19603065
2010
×
Entrez Id:
51473
Gene Symbol:
DCDC2
DCDC2
0.410
GeneticVariation
disease
BEFREE
DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss .
21816241
2012