Details of Disease | DrugMAP

General Information of Disease (ID: DISGUBO8)

Disease Name	Autosomal dominant nonsyndromic hearing loss 68
Synonyms	autosomal dominant nonsyndromic deafness type 68; autosomal dominant nonsyndromic deafness 68; deafness, autosomal dominant type 68; deafness, autosomal dominant 68; autosomal dominant nonsyndromic deafness caused by mutation in HOMER2; DFNA68; autosomal dominant deafness 68; HOMER2 autosomal dominant nonsyndromic deafness
Definition	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene.
Disease Hierarchy	DISYC1G0: Autosomal dominant nonsyndromic hearing loss DISGUBO8: Autosomal dominant nonsyndromic hearing loss 68
Disease Identifiers	MONDO ID MONDO_0014740 UMLS CUI C4225240 OMIM ID 616707 MedGen ID 898808

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
HOMER2	OT4JGKJF	Strong	Autosomal dominant	[1]
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References

1	HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. PLoS Genet. 2015 Mar 27;11(3):e1005137. doi: 10.1371/journal.pgen.1005137. eCollection 2015 Mar.