COCH, cochlin, 1690

N. diseases: 45; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042594
Disease: Vestibular Diseases
Vestibular Diseases 		0.060 GeneticVariation group BEFREE Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9. 12843317 2003
CUI: C0042594
Disease: Vestibular Diseases
Vestibular Diseases 		0.060 GeneticVariation group BEFREE Seven missense mutations and one in-frame deletion mutation have been reported in the coagulation factor C homology (COCH) gene, causing the adult-onset, progressive sensorineural hearing loss and vestibular disorder at the DFNA9 locus. 16481359 2006
CUI: C0042594
Disease: Vestibular Diseases
Vestibular Diseases 		0.060 GeneticVariation group 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: C0042594
Disease: Vestibular Diseases
Vestibular Diseases 		0.060 GeneticVariation group BEFREE Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder. 25230692 2014
CUI: C0042594
Disease: Vestibular Diseases
Vestibular Diseases 		0.060 GeneticVariation group BEFREE Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9. 11709536 2001
CUI: C0042594
Disease: Vestibular Diseases
Vestibular Diseases 		0.060 GeneticVariation group BEFREE Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion. 26256111 2015
CUI: C0494559
Disease: Diseases of inner ear
Diseases of inner ear 		0.060 GeneticVariation group BEFREE Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion. 26256111 2015
CUI: C0494559
Disease: Diseases of inner ear
Diseases of inner ear 		0.060 GeneticVariation group BEFREE Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9. 11709536 2001
CUI: C0494559
Disease: Diseases of inner ear
Diseases of inner ear 		0.060 GeneticVariation group BEFREE Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9. 12843317 2003
CUI: C0494559
Disease: Diseases of inner ear
Diseases of inner ear 		0.060 GeneticVariation group BEFREE Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder. 25230692 2014
CUI: C0494559
Disease: Diseases of inner ear
Diseases of inner ear 		0.060 GeneticVariation group 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: C0494559
Disease: Diseases of inner ear
Diseases of inner ear 		0.060 Biomarker group BEFREE DFNA9 is an inner ear disorder with a unique histopathology showing loss of cellularity and aggregation of abundant homogeneous acellular eosinophilic deposits in the cochlear and vestibular labyrinths, similar to protein aggregation in well-known neurodegenerative disorders. 16481359 2006
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 Biomarker group BEFREE DFNA9 is an inner ear disorder with a unique histopathology showing loss of cellularity and aggregation of abundant homogeneous acellular eosinophilic deposits in the cochlear and vestibular labyrinths, similar to protein aggregation in well-known neurodegenerative disorders. 16481359 2006
CUI: C0542259
Disease: Morphological abnormality of the vestibule of the inner ear
Morphological abnormality of the vestibule of the inner ear 		0.010 GeneticVariation group BEFREE The purposes of this study were 1) to further investigate the vestibular abnormalities in members of one American family for the purposes of genotype-phenotype correlation and 2) to investigate the electron microscopic structure of the acidophilic deposit to obtain further insights into the pathogenesis of DFNA9. 10942145 2000
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 GeneticVariation phenotype BEFREE The COCH gene is one of the few genes clinically examined when investigating the etiology of autosomal dominant late onset hearing impairment. 23374487 2013
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 Biomarker phenotype BEFREE We conclude that DFNA60 should be considered in hearing impaired patients who undergo a rapid progression in middle age and are negative for DFNA9. 23538131 2013
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 GeneticVariation phenotype BEFREE Vestibular impairment starts earlier, progresses more rapidly, and, eventually, is more complete than hearing impairment in P51S COCH mutation carriers. 16151338 2005
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 GeneticVariation phenotype BEFREE A novel mutation (G87W) in COCH is indicative of hearing impairment and vestibular dysfunction in the present family. 17264471 2007
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 GeneticVariation phenotype BEFREE An earlier onset of hearing impairment and vestibular dysfunction compared to the dominant hearing loss causing COCH variants is observed. 29449721 2018
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 GeneticVariation phenotype BEFREE Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment. 31126177 2019
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 Biomarker phenotype GENOMICS_ENGLAND A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. 9931344 1999
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 GeneticVariation phenotype BEFREE A novel mutation (I109T) in COCH segregates with hearing impairment and vestibular dysfunction in the present family. 17561763 2007
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 GeneticVariation phenotype LHGDN Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families. 18312449 2008
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 GeneticVariation phenotype BEFREE Focal sclerosis of semicircular canals with severe DFNA9 hearing impairment caused by a P51S COCH-mutation: is there a link? 24662630 2014
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 GeneticVariation phenotype BEFREE Mutations in the COCH (coagulation factor C homology) gene have been attributed to DFNA9 (deafness, autosomal-dominant 9), an autosomal-dominant non-syndromic hearing loss disorder. 20228067 2010