COCH, cochlin, 1690

N. diseases: 45; N. variants: 14
Disease: Dominant sensorineural hearing loss ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0395971
Disease: Dominant sensorineural hearing loss
Dominant sensorineural hearing loss 		0.020 GeneticVariation disease BEFREE To date, 23 COCH mutations causative of DFNA9 autosomal dominant sensorineural hearing loss and vestibular disorder have been reported, and the histopathology of the human inner ear has been described in 4 of these. 27023102 2016
CUI: C0395971
Disease: Dominant sensorineural hearing loss
Dominant sensorineural hearing loss 		0.020 GeneticVariation disease BEFREE Missense mutations in the coagulation factor C homology (COCH) gene (14q12-q13) cause the autosomal dominant sensorineural hearing loss and vestibular disorder DFNA9 (OMIM 603196), and a high prevalence of symptoms of Meniere disease (MD) has been described in families with a mutation in the COCH gene. 14704763 2004