Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9381
Gene Symbol: OTOF
OTOF
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.500 Biomarker CLINGEN A novel otoferlin splice-site mutation in siblings with auditory neuropathy spectrum disorder. 24135434

2013
Entrez Id: 9381
Gene Symbol: OTOF
OTOF
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.500 Biomarker 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
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.500 Biomarker 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
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.500 Biomarker 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
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.500 Biomarker 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
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.500 Biomarker CLINGEN A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. 10192385

1999