×
Entrez Id:
50
Gene Symbol:
ACO2
ACO2
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
51
Gene Symbol:
ACOX1
ACOX1
0.100
Biomarker
disease
HPO
×
Entrez Id:
71
Gene Symbol:
ACTG1
ACTG1
0.100
Biomarker
disease
HPO
ADAMTSL1
0.100
Biomarker
disease
HPO
×
Entrez Id:
410
Gene Symbol:
ARSA
ARSA
0.100
Biomarker
disease
HPO
ATP6V0A4
0.100
Biomarker
disease
HPO
ATP6V1B1
0.200
Biomarker
disease
MGD
Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts.
28934385
2017
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
203228
Gene Symbol:
C9orf72
C9orf72
0.100
Biomarker
disease
HPO
×
Entrez Id:
51475
Gene Symbol:
CABP2
CABP2
0.200
Biomarker
disease
MGD
Ca2+ -binding protein 2 inhibits Ca2+ -channel inactivation in mouse inner hair cells.
28183797
2017
CATSPER2
0.100
Biomarker
disease
HPO
×
Entrez Id:
135228
Gene Symbol:
CD109
CD109
0.100
Biomarker
disease
HPO
×
Entrez Id:
64072
Gene Symbol:
CDH23
CDH23
0.200
Biomarker
disease
MGD
An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice.
21689626
2011
×
Entrez Id:
64072
Gene Symbol:
CDH23
CDH23
0.200
Biomarker
disease
MGD
A new mouse mutant of the Cdh23 gene with early-onset hearing loss facilitates evaluation of otoprotection drugs.
20644563
2012
×
Entrez Id:
64072
Gene Symbol:
CDH23
CDH23
0.200
Biomarker
disease
MGD
A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.
19270079
2009
×
Entrez Id:
64072
Gene Symbol:
CDH23
CDH23
0.200
Biomarker
disease
MGD
A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function.
17329413
2007
CEACAM16
0.200
Biomarker
disease
MGD
Loss of mammal-specific tectorial membrane component carcinoembryonic antigen cell adhesion molecule 16 (CEACAM16) leads to hearing impairment at low and high frequencies.
22544735
2012
×
Entrez Id:
400916
Gene Symbol:
CHCHD10
CHCHD10
0.100
Biomarker
disease
HPO
×
Entrez Id:
22856
Gene Symbol:
CHSY1
CHSY1
0.100
Biomarker
disease
HPO
×
Entrez Id:
10518
Gene Symbol:
CIB2
CIB2
0.200
Biomarker
disease
MGD
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.
29084757
2017
×
Entrez Id:
23562
Gene Symbol:
CLDN14
CLDN14
0.200
Biomarker
disease
MGD
Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration.
12913076
2003
×
Entrez Id:
84334
Gene Symbol:
COA8
COA8
0.100
Biomarker
disease
HPO
×
Entrez Id:
1690
Gene Symbol:
COCH
COCH
0.220
Biomarker
disease
MGD
Hearing and vestibular deficits in the Coch(-/-) null mouse model: comparison to the Coch(G88E/G88E) mouse and to DFNA9 hearing and balance disorder.
21073934
2011
×
Entrez Id:
1690
Gene Symbol:
COCH
COCH
0.220
GeneticVariation
disease
BEFREE
The Pro51Ser (P51S ) COCH mutation is characterized by a late-onset bilateral sensorineural hearing loss (SNHL) and progressive vestibular deterioration.
30806805
2019
×
Entrez Id:
1690
Gene Symbol:
COCH
COCH
0.220
GeneticVariation
disease
BEFREE
This finding reinforces the need for clinical genetic screening of the COCH gene to be expanded beyond the current limited exon screening, as there is now more evidence to support that mutations in other areas of this gene are also causative of a similar form of late onset BLSNHI .
23374487
2013