Details of Disease | DrugMAP

General Information of Disease (ID: DISEF6FN)

Disease Name	Autosomal dominant nonsyndromic hearing loss 65
Synonyms	autosomal dominant nonsyndromic deafness type 65; autosomal dominant nonsyndromic deafness 65; deafness, autosomal dominant type 65; autosomal dominant nonsyndromic deafness caused by mutation in TBC1D24; autosomal dominant deafness 65; DFNA65; deafness, autosomal dominant 65; TBC1D24 autosomal dominant nonsyndromic deafness
Definition	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.
Disease Hierarchy	DISYC1G0: Autosomal dominant nonsyndromic hearing loss DISEF6FN: Autosomal dominant nonsyndromic hearing loss 65
Disease Identifiers	MONDO ID MONDO_0014470 UMLS CUI C3892048 OMIM ID 616044 MedGen ID 856147

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TBC1D24	OTKZUSMD	Strong	Autosomal dominant	[1]
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References

1	TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum Mutat. 2014 Jul;35(7):819-23. doi: 10.1002/humu.22557. Epub 2014 May 6.