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: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.990 Biomarker disease CTD_human
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.990 CausalMutation disease CLINVAR
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.200 Biomarker disease HPO
CUI: C0042571
Disease: Vertigo
Vertigo 		0.120 Biomarker phenotype HPO
CUI: C0040264
Disease: Tinnitus
Tinnitus 		0.110 Biomarker phenotype HPO
CUI: C1843865
Disease: Vestibular dysfunction
Vestibular dysfunction 		0.100 Biomarker phenotype HPO
CUI: C1849095
Disease: Cochlear degeneration
Cochlear degeneration 		0.100 Biomarker phenotype HPO
CUI: C3554568
Disease: Young adult onset
Young adult onset 		0.100 Biomarker phenotype HPO
CUI: C4021431
Disease: Abnormality of the vestibulocochlear nerve
Abnormality of the vestibulocochlear nerve 		0.100 Biomarker disease HPO
CUI: C4024654
Disease: Postlingual sensorineural hearing impairment
Postlingual sensorineural hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1998346
Disease: Autoimmune sensorineural hearing loss
Autoimmune sensorineural hearing loss 		0.020 Biomarker disease BEFREE Cochlin is also suggested to be the self-antigen of autoimmune sensorineural hearing loss. 15885953 2005
CUI: C1998346
Disease: Autoimmune sensorineural hearing loss
Autoimmune sensorineural hearing loss 		0.020 Biomarker disease BEFREE Cochlin (encoded by COCH) has also been shown as a major target antigen for autoimmune sensorineural hearing loss. 16481359 2006
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: C0017601
Disease: Glaucoma
Glaucoma 		0.010 Biomarker disease BEFREE Cochlin along with mucopolysaccharide deposits has been found in the TM of glaucoma patients and in the inner ear of subjects affected by the hearing disorder DNFA9, a late-onset, progressive disease that also involves alterations in fluid shear regimes. 17662637 2007
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.200 Biomarker disease BEFREE DFNA9 is a late-onset, progressive, autosomal dominantly inherited sensorineural hearing loss with vestibular dysfunction, which is caused by mutations in the <i>COCH</i> (coagulation factor C homology) gene. 28116169 2016
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.050 GeneticVariation disease BEFREE A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. 9931344 1999
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain. 22610276 2012
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 GeneticVariation disease BEFREE A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain. 22610276 2012
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.990 GeneticVariation disease CLINVAR A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction. 16261627 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 A novel mutation (I109T) in COCH segregates with hearing impairment and vestibular dysfunction in the present family. 17561763 2007
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.990 GeneticVariation disease UNIPROT A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. 9931344 1999
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.990 Biomarker disease 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 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