Details of Disease | DrugMAP

General Information of Disease (ID: DIS6SPZD)

Disease Name	Autosomal dominant nonsyndromic hearing loss 67
Synonyms	autosomal dominant nonsyndromic deafness type 67; DFNA67; autosomal dominant nonsyndromic deafness caused by mutation in OSBPL2; deafness, autosomal dominant type 67; OSBPL2 autosomal dominant nonsyndromic deafness; deafness, autosomal dominant 67; autosomal dominant deafness 67; autosomal dominant nonsyndromic deafness 67
Definition	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene.
Disease Hierarchy	DISYC1G0: Autosomal dominant nonsyndromic hearing loss DIS6SPZD: Autosomal dominant nonsyndromic hearing loss 67
Disease Identifiers	MONDO ID MONDO_0014594 UMLS CUI C4084712 OMIM ID 616340 MedGen ID 900413

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
OSBPL2	OTCK671N	Strong	Autosomal dominant	[1]
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References

1	Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing. Genet Med. 2015 Mar;17(3):210-8. doi: 10.1038/gim.2014.90. Epub 2014 Jul 31.