Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
Entrez Id: 92949
Gene Symbol: ADAMTSL1
ADAMTSL1
0.100 Biomarker disease HPO
Entrez Id: 410
Gene Symbol: ARSA
ARSA
0.100 Biomarker disease HPO
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4
0.100 Biomarker disease HPO
Entrez Id: 525
Gene Symbol: ATP6V1B1
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
Entrez Id: 117155
Gene Symbol: CATSPER2
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
Entrez Id: 388551
Gene Symbol: CEACAM16
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