Details of Disease | DrugMAP

General Information of Disease (ID: DISOQSLN)

Disease Name	Hearing loss, autosomal dominant 76
Synonyms	DFNA76; deafness, autosomal dominant 76; DEAFNESS, AUTOSOMAL DOMINANT 76
Disease Hierarchy	DISYC1G0: Autosomal dominant nonsyndromic hearing loss DISOQSLN: Hearing loss, autosomal dominant 76
Disease Identifiers	MONDO ID MONDO_0032917 UMLS CUI C5394080 OMIM ID 618787 MedGen ID 1710038

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
PLS1	OTWURB8U	Strong	Autosomal dominant	[1]
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References

1	Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss. Hum Mutat. 2019 Dec;40(12):2286-2295. doi: 10.1002/humu.23891. Epub 2019 Oct 1.