Details of Disease

General Information of Disease (ID: DISD5HDW)

Disease Name Autosomal dominant nonsyndromic hearing loss 9
Synonyms
autosomal dominant nonsyndromic deafness caused by mutation in COCH; deafness, autosomal dominant 9; autosomal dominant nonsyndromic deafness 9; autosomal dominant nonsyndromic deafness type 9; DFNA9; COCH autosomal dominant nonsyndromic deafness; deafness, autosomal dominant type 9; autosomal dominant deafness 9
Definition Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene.
Disease Hierarchy
DISYC1G0: Autosomal dominant nonsyndromic hearing loss
DISD5HDW: Autosomal dominant nonsyndromic hearing loss 9
Disease Identifiers
MONDO ID
MONDO_0011058
MESH ID
C563335
UMLS CUI
C1832425
OMIM ID
601369
MedGen ID
371327

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COCH OTBEHD89 Strong Autosomal dominant [1]
DIAPH1 OTZBYPLH Strong Genetic Variation [2]
MYO7A OTBZSPEL Strong Biomarker [2]
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References

1 High prevalence of symptoms of Menire's disease in three families with a mutation in the COCH gene. Hum Mol Genet. 1999 Aug;8(8):1425-9. doi: 10.1093/hmg/8.8.1425.
2 Hereditary deafness and phenotyping in humans.Br Med Bull. 2002;63:73-94. doi: 10.1093/bmb/63.1.73.