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COCH

Chr 14q12

cochlin

Aliases:
COCH-5B2
MANE:
ENST00000396618.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Familial Meniere Disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Monogenic hearing loss

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • autosomal dominant nonsyndromic hearing loss

    0.71
  • hearing loss, autosomal recessive 110

    0.69
  • nonsyndromic genetic hearing loss

    0.51
  • deafness

    0.49
  • Rare genetic deafness

    0.46
  • Non-syndromic genetic deafness

    0.39
  • Hearing impairment

    0.36
  • Sensorineural hearing impairment

    0.34
  • neurodegenerative disease

    0.34
  • Prelingual sensorineural hearing impairment

    0.33

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cochlin

Plays a role in the control of cell shape and motility in the trabecular meshwork

Curated MONDO disease pages that list COCH among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.