Details of Disease | DrugMAP

General Information of Disease (ID: DISFGAU5)

Disease Name	Hearing loss, autosomal dominant 80
Synonyms	deafness, autosomal dominant 80; DFNA80
Disease Hierarchy	DISYC1G0: Autosomal dominant nonsyndromic hearing loss DISFGAU5: Hearing loss, autosomal dominant 80
Disease Identifiers	MONDO ID MONDO_0030998 UMLS CUI C5543289 OMIM ID 619274 MedGen ID 1779667

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
GREB1L	OTZTY5KQ	Limited	Autosomal dominant	[1]
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References

1	De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness. Hum Genet. 2018 Jul;137(6-7):459-470. doi: 10.1007/s00439-018-1898-8. Epub 2018 Jun 28.