Source: MGD

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 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
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
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
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
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
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.500 Biomarker MGD Random mutagenesis of proximal mouse chromosome 5 uncovers predominantly embryonic lethal mutations. 16024820

2005