Details of Disease

General Information of Disease (ID: DISL9HPW)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 86
• Synonyms: deafness, autosomal recessive type 86; autosomal recessive deafness 86; autosomal recessive nonsyndromic deafness 86; deafness, autosomal recessive 86; autosomal recessive nonsyndromic deafness caused by mutation in TBC1D24; TBC1D24 autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness type 86; DFNB86
• Definition: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DISL9HPW: Autosomal recessive nonsyndromic hearing loss 86
• Disease Identifiers:
  MONDO ID: MONDO_0013826
  UMLS CUI: C2829265
  OMIM ID: 614617
  MedGen ID: 760543

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TBC1D24	OTKZUSMD	Definitive	Autosomal recessive	[1]

References

• [1] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.