Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9381
Gene Symbol: OTOF
OTOF
Sensorineural hearing loss, bilateral
0.500 Biomarker MGD Random mutagenesis of proximal mouse chromosome 5 uncovers predominantly embryonic lethal mutations. 16024820

2005

Entrez Id: 494513
Gene Symbol: PJVK
PJVK
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. 16804542

2006

Entrez Id: 9294
Gene Symbol: S1PR2
S1PR2
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD The S1P2 sphingosine 1-phosphate receptor is essential for auditory and vestibular function. 16945494

2006

Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD Inducing mutations in the mouse genome with the chemical mutagen ethylnitrosourea. 16972005

2006

Entrez Id: 9381
Gene Symbol: OTOF
OTOF
Sensorineural hearing loss, bilateral
0.500 Biomarker MGD Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. 17055430

2006

Entrez Id: 10804
Gene Symbol: GJB6
GJB6
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness. 17227867

2007

Entrez Id: 25861
Gene Symbol: WHRN
WHRN
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development. 17326148

2007

Entrez Id: 64072
Gene Symbol: CDH23
CDH23
Sensorineural hearing loss, bilateral
0.200 Biomarker 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: 10804
Gene Symbol: GJB6
GJB6
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD Connexin30 deficiency causes instrastrial fluid-blood barrier disruption within the cochlear stria vascularis. 17400755

2007

Entrez Id: 9381
Gene Symbol: OTOF
OTOF
Sensorineural hearing loss, bilateral
0.500 Biomarker MGD A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9. 17967520

2007

Entrez Id: 246213
Gene Symbol: SLC17A8
SLC17A8
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD The vesicular glutamate transporter VGLUT3 synergizes striatal acetylcholine tone. 18278042

2008

Entrez Id: 246213
Gene Symbol: SLC17A8
SLC17A8
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. 18674745

2008

Entrez Id: 1690
Gene Symbol: COCH
COCH
Sensorineural hearing loss, bilateral
0.220 Biomarker MGD A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction. 18697796

2008

Entrez Id: 220074
Gene Symbol: LRTOMT
LRTOMT
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD A catechol-O-methyltransferase that is essential for auditory function in mice and humans. 18794526

2008

Entrez Id: 161497
Gene Symbol: STRC
STRC
Sensorineural hearing loss, bilateral
0.310 Biomarker MGD Stereocilin-deficient mice reveal the origin of cochlear waveform distortions. 18849963

2008

Entrez Id: 10804
Gene Symbol: GJB6
GJB6
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD ATP release through connexin hemichannels and gap junction transfer of second messengers propagate Ca2+ signals across the inner ear. 19047635

2008

Entrez Id: 64072
Gene Symbol: CDH23
CDH23
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. 19270079

2009

Entrez Id: 25861
Gene Symbol: WHRN
WHRN
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD Cochlear outer hair cells undergo an apical circumference remodeling constrained by the hair bundle shape. 20332152

2010

Entrez Id: 64072
Gene Symbol: CDH23
CDH23
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD A new mouse mutant of the Cdh23 gene with early-onset hearing loss facilitates evaluation of otoprotection drugs. 20644563

2012

Entrez Id: 10804
Gene Symbol: GJB6
GJB6
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice. 20858605

2010

Entrez Id: 1690
Gene Symbol: COCH
COCH
Sensorineural hearing loss, bilateral
0.220 Biomarker 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: 53904
Gene Symbol: MYO3A
MYO3A
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA. 21165622

2011

Entrez Id: 64072
Gene Symbol: CDH23
CDH23
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice. 21689626

2011

Entrez Id: 117531
Gene Symbol: TMC1
TMC1
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD Identification of three novel hearing loss mouse strains with mutations in the Tmc1 gene. 22330676

2012

Entrez Id: 388551
Gene Symbol: CEACAM16
CEACAM16
Sensorineural hearing loss, bilateral
0.200 Biomarker 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