Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.960 AlteredExpression disease BEFREE A single delivery of the vector pair into the mature cochlea of <i>Otof</i><sup>-/-</sup> mutant mice reconstituted the otoferlin cDNA coding sequence through recombination of the 5' and 3' cDNAs, leading to the durable restoration of otoferlin expression in transduced cells and a reversal of the deafness phenotype, raising hopes for future gene therapy trials in DFNB9 patients. 30782832 2019
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.960 CausalMutation disease CLINVAR Timing of cochlear implantation in auditory neuropathy patients with OTOF mutations: Our experience with 10 patients. 28766844 2018
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.960 GeneticVariation disease CLINVAR Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China. 27018795 2016
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.960 GeneticVariation disease UNIPROT Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family. 26437881 2016
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.960 CausalMutation disease CLINVAR Identification of a novel splice site variant of OTOF in the Korean nonsyndromic hearing loss population with low prevalence of the OTOF mutations. 24814232 2014
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.960 GeneticVariation disease BEFREE Another DFNB9 patient (SB4-12), the father of SB4-11, carried a homozygous p.Y374X mutation that affected only the long isoform of OTOF and did not manifest AN/AD. 24814232 2014
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.960 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 		0.960 GeneticVariation disease CLINVAR Evidence for genotype-phenotype correlation for OTOF mutations. 24746455 2014
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.960 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 		0.960 CausalMutation disease CLINVAR Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder. 21935370 2011
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.960 CausalMutation disease CLINVAR Genetic characteristics in children with cochlear implants and the corresponding auditory performance. 21557232 2011
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.960 CausalMutation disease CLINVAR Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy. 20224275 2010
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.960 GeneticVariation disease CLINVAR Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever! 20230791 2010
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.960 GeneticVariation disease CLINVAR Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy. 20504331 2010
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.960 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 		0.960 Biomarker disease GENOMICS_ENGLAND 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 		0.960 GeneticVariation disease BEFREE In the present study, we generated otoferlin fusion proteins containing two of the same amino acid substitutions detected in DFNB9 patients (P1825A in C2F and L1011P in C2D). 19004828 2009
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.960 GeneticVariation disease UNIPROT A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. 18381613 2008
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.960 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 		0.960 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 		0.960 GeneticVariation disease UNIPROT OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. 16371502 2006
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.960 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 		0.960 GeneticVariation disease CLINVAR OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. 16371502 2006
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.960 GeneticVariation disease UNIPROT Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing. 16283880 2005
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.960 GeneticVariation disease BEFREE Screening of 12 Turkish families with apparently autosomal recessive nonsyndromic sensorineural deafness without GJB2 and mtDNA m.1555A > G mutations for 11 previously mapped recessive deafness loci showed a family in which hearing loss cosegregated with the DFNB9 (OTOF) locus. 16097006 2005