×
Entrez Id:
204
Gene Symbol:
AK2
AK2
0.310
Biomarker
phenotype
CTD_human
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness.
19043416
2009
×
Entrez Id:
204
Gene Symbol:
AK2
AK2
0.310
GeneticVariation
phenotype
LHGDN
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness.
19043416
2009
×
Entrez Id:
254268
Gene Symbol:
AKNAD1
AKNAD1
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
627
Gene Symbol:
BDNF
BDNF
0.300
Therapeutic
phenotype
CTD_human
Enhanced survival of spiral ganglion cells after cessation of treatment with brain-derived neurotrophic factor in deafened guinea pigs.
19365690
2009
×
Entrez Id:
627
Gene Symbol:
BDNF
BDNF
0.300
Therapeutic
phenotype
CTD_human
Delayed electrical stimulation and BDNF application following induced deafness in rats.
18607918
2009
×
Entrez Id:
7809
Gene Symbol:
BSND
BSND
0.020
GeneticVariation
phenotype
LHGDN
Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families.
16572343
2006
×
Entrez Id:
7809
Gene Symbol:
BSND
BSND
0.020
GeneticVariation
phenotype
LHGDN
Barttin mutations in antenatal Bartter syndrome with sensorineural deafness.
16773427
2006
×
Entrez Id:
776
Gene Symbol:
CACNA1D
CACNA1D
0.300
Biomarker
phenotype
CTD_human
Null mutation of alpha1D Ca2+ channel gene results in deafness but no vestibular defect in mice.
15357422
2004
×
Entrez Id:
8556
Gene Symbol:
CDC14A
CDC14A
0.300
Biomarker
phenotype
CTD_human
Auditory hair cells of postnatal Cdc14a mutants develop normally, but subsequently degenerate causing deafness .
29293958
2018
×
Entrez Id:
64072
Gene Symbol:
CDH23
CDH23
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
1187
Gene Symbol:
CLCNKA
CLCNKA
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
23562
Gene Symbol:
CLDN14
CLDN14
0.400
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
23562
Gene Symbol:
CLDN14
CLDN14
0.400
Biomarker
phenotype
CTD_human
The essential function of one of these claudins in the inner ear was established by identifying mutations in CLDN14 that cause nonsyndromic recessive deafness DFNB29 in two large consanguineous Pakistani families.
11163249
2001
×
Entrez Id:
1690
Gene Symbol:
COCH
COCH
0.010
GeneticVariation
phenotype
LHGDN
Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin .
12928864
2003
×
Entrez Id:
2059
Gene Symbol:
EPS8
EPS8
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
83715
Gene Symbol:
ESPN
ESPN
0.300
Biomarker
phenotype
CTD_human
A recessive mutation in the espin gene (Espn) has been detected in the jerker mouse and causes deafness , vestibular dysfunction, and hair cell degeneration.
15930085
2006
×
Entrez Id:
83715
Gene Symbol:
ESPN
ESPN
0.300
Biomarker
phenotype
CTD_human
The abnormal vestibular phenotype associated with ESPN mutations will be a useful clinical marker for refining the differential diagnosis of non-syndromic deafness .
15286153
2004
×
Entrez Id:
2248
Gene Symbol:
FGF3
FGF3
0.010
Biomarker
phenotype
LHGDN
In order to better characterize the phenotypic spectrum associated with FGF3 mutations, we sequenced the FGF3 gene in 10 unrelated families in which probands had congenital deafness associated with various inner ear anomalies, including Michel aplasia, with or without tooth or external ear anomalies.
18435799
2008
×
Entrez Id:
2299
Gene Symbol:
FOXI1
FOXI1
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1 .
29242249
2018
×
Entrez Id:
2625
Gene Symbol:
GATA3
GATA3
0.040
GeneticVariation
phenotype
LHGDN
A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome.
17114920
2006
×
Entrez Id:
2625
Gene Symbol:
GATA3
GATA3
0.040
GeneticVariation
phenotype
LHGDN
Characterization of GATA3 mutations in the hypoparathyroidism, deafness , and renal dysplasia (HDR) syndrome.
14985365
2004
×
Entrez Id:
2625
Gene Symbol:
GATA3
GATA3
0.040
GeneticVariation
phenotype
LHGDN
This is the first article presenting mutations of the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population.
16912130
2006
×
Entrez Id:
2625
Gene Symbol:
GATA3
GATA3
0.040
GeneticVariation
phenotype
LHGDN
A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome).
16509533
2006
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.450
GeneticVariation
phenotype
LHGDN
Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East.
11935342
2002
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.450
GeneticVariation
phenotype
LHGDN
In contrast, most recessive Cx26 mutations (identified in DFNB1 patients) resulted in a simple loss of channel activity.
12505163
2003