Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.500 Biomarker disease 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 		0.500 Biomarker disease CLINGEN A novel otoferlin splice-site mutation in siblings with auditory neuropathy spectrum disorder. 24135434 2013
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.500 Biomarker disease CLINGEN Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell. 19417007 2009
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.500 Biomarker disease 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 		0.500 Biomarker disease CLINGEN 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 		0.500 Biomarker disease 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 		0.500 Biomarker disease MGD Random mutagenesis of proximal mouse chromosome 5 uncovers predominantly embryonic lethal mutations. 16024820 2005
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.500 Biomarker disease CLINGEN Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness. 12127154 2002
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.500 Biomarker disease CLINGEN A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms. 11483641 2001
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.500 Biomarker disease CLINGEN A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. 10192385 1999
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.340 GeneticVariation disease BEFREE p.R143Q mutation in GJB2 can cause mild to profound bilateral sensorineural hearing impairment. 22991996 2013
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.340 GeneticVariation disease BEFREE A de novo GJB2 p.R184Q mutation can cause severe-to-profound bilateral sensorineural hearing impairment. 21868108 2011
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.340 GeneticVariation disease BEFREE The autosomic dominant KID Syndrome (MIM 148210), due to mutations in GJB2 (connexin 26, Cx26), is an ectodermal dysplasia with erythematous scaly skin lesions, keratitis and severe bilateral sensorineural deafness. 20230788 2010
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.340 GeneticVariation disease BEFREE Biallelic pathogenic GJB2 gene mutations cause pre-lingual genetic hearing loss in up to 50% of individuals with bilateral sensorineural hearing loss worldwide. 16650079 2006
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.340 CausalMutation disease CLINVAR
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.340 Biomarker disease MGD
Entrez Id: 161497
Gene Symbol: STRC
STRC 		0.310 GeneticVariation disease BEFREE Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. 22147502 2012
Entrez Id: 161497
Gene Symbol: STRC
STRC 		0.310 Biomarker disease MGD Stereocilin-deficient mice reveal the origin of cochlear waveform distortions. 18849963 2008
Entrez Id: 161497
Gene Symbol: STRC
STRC 		0.310 Biomarker disease HPO
Entrez Id: 1687
Gene Symbol: GSDME
GSDME 		0.300 Biomarker disease CLINGEN Distinct Expression Patterns Of Causative Genes Responsible For Hereditary Progressive Hearing Loss In Non-Human Primate Cochlea. 26915689 2016
Entrez Id: 1687
Gene Symbol: GSDME
GSDME 		0.300 Biomarker disease CLINGEN A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family. 24933359 2014
Entrez Id: 1687
Gene Symbol: GSDME
GSDME 		0.300 Biomarker disease CLINGEN A DFNA5 mutation identified in Japanese families with autosomal dominant hereditary hearing loss. 24506266 2014
Entrez Id: 1687
Gene Symbol: GSDME
GSDME 		0.300 Biomarker disease CLINGEN The splicing mutant of the human tumor suppressor protein DFNA5 induces programmed cell death when expressed in the yeast Saccharomyces cerevisiae. 22848872 2012
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		0.300 Biomarker disease MGD Inner ear morphology is perturbed in two novel mouse models of recessive deafness. 23251483 2012
Entrez Id: 4641
Gene Symbol: MYO1C
MYO1C 		0.300 Biomarker disease CLINGEN Three heterozygous missense mutations in the motor domain of myosin 1c (Myo1c), which mediates adaptation in the inner ear, are associated with bilateral sensorineural hearing loss in humans. 20640478 2011