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 Synaptic transmission between end bulbs of Held and bushy cells in the cochlear nucleus of mice with a mutation in Otoferlin. 25253474

2014

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: 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: 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: 2706
Gene Symbol: GJB2
GJB2
Sensorineural hearing loss, bilateral
0.340 Biomarker MGD

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: 4647
Gene Symbol: MYO7A
MYO7A
Sensorineural hearing loss, bilateral
0.300 Biomarker MGD Inner ear morphology is perturbed in two novel mouse models of recessive deafness. 23251483

2012

Entrez Id: 4646
Gene Symbol: MYO6
MYO6
Sensorineural hearing loss, bilateral
0.300 Biomarker MGD Myosin VI is required for normal retinal function. 15978262

2005

Entrez Id: 4646
Gene Symbol: MYO6
MYO6
Sensorineural hearing loss, bilateral
0.300 Biomarker MGD Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia. 12966030

2003

Entrez Id: 4646
Gene Symbol: MYO6
MYO6
Sensorineural hearing loss, bilateral
0.300 Biomarker MGD Role of myosin VI in the differentiation of cochlear hair cells. 10525338

1999

Entrez Id: 4646
Gene Symbol: MYO6
MYO6
Sensorineural hearing loss, bilateral
0.300 Biomarker MGD The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells. 7493015

1995

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: 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: 51475
Gene Symbol: CABP2
CABP2
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD Ca2+-binding protein 2 inhibits Ca2+-channel inactivation in mouse inner hair cells. 28183797

2017

Entrez Id: 10518
Gene Symbol: CIB2
CIB2
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival. 29084757

2017

Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1
Sensorineural hearing loss, bilateral
0.200 Biomarker 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: 9294
Gene Symbol: S1PR2
S1PR2
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD S1PR2 variants associated with auditory function in humans and endocochlear potential decline in mouse. 27383011

2016

Entrez Id: 9294
Gene Symbol: S1PR2
S1PR2
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. 26805784

2016

Entrez Id: 286262
Gene Symbol: TPRN
TPRN
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD Progressive hearing loss and degeneration of hair cell stereocilia in taperin gene knockout mice. 27693694

2016

Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD Deficiency of angulin-2/ILDR1, a tricellular tight junction-associated membrane protein, causes deafness with cochlear hair cell degeneration in mice. 25822906

2015

Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells. 25217574

2015

Entrez Id: 153562
Gene Symbol: MARVELD2
MARVELD2
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD Deletion of Tricellulin Causes Progressive Hearing Loss Associated with Degeneration of Cochlear Hair Cells. 26677943

2015

Entrez Id: 340990
Gene Symbol: OTOG
OTOG
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD A new Otogelin ENU mouse model for autosomal-recessive nonsyndromic moderate hearing impairment. 26636018

2015

Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD ILDR1 deficiency causes degeneration of cochlear outer hair cells and disrupts the structure of the organ of Corti: a mouse model for human DFNB42. 25819842

2015

Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
Sensorineural hearing loss, bilateral
0.200 Biomarker MGD The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearing. 26302205

2015