Details of Disease | DrugMAP

General Information of Disease (ID: DISOWM4Y)

Disease Name	Autosomal dominant nonsyndromic hearing loss 27
Synonyms	deafness, autosomal dominant 27; autosomal dominant nonsyndromic deafness 27; autosomal dominant nonsyndromic deafness type 27; autosomal dominant deafness 27; DFNA27
Definition	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1.
Disease Hierarchy	DISYC1G0: Autosomal dominant nonsyndromic hearing loss DISOWM4Y: Autosomal dominant nonsyndromic hearing loss 27
Disease Identifiers	MONDO ID MONDO_0012902 UMLS CUI C3887929 OMIM ID 612431 MedGen ID 854637

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
REST	OTLL92LQ	Limited	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.