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Article

Mutations in COCH (formerly Coch5b2) cause DFNA9.

Advances in oto-rhino-laryngology - 1 Jan 2000

Eavey R D, Manolis E N, Lubianca J, Merchant S, Seidman J G, Seidman C

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Share to Adolescent
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10868220
DOI: 10.1159/000059070

Genes

COCH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in COCH (formerly Coch5b2) cause DFNA9.PMID 10868220Read ↗

DFNA9/COCH and its phenotype.Semantic proximity Read ↗

Non-syndromic dominant DFNA1.Semantic proximity Read ↗

A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9.Semantic proximity Read ↗

Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.Semantic proximity Read ↗

Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.Semantic proximity Read ↗

On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice.Semantic proximity Read ↗

Auditory phenotype of DFNA1.Semantic proximity Read ↗

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunctionSemantic proximity Read ↗

A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.Semantic proximity Read ↗

Clinical manifestations of DFNB29 deafness.Semantic proximity Read ↗

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defectsSemantic proximity Read ↗

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.Semantic proximity Read ↗

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