Details of Disease | DrugMAP

General Information of Disease (ID: DIS7ECVH)

Disease Name	Hearing loss, autosomal recessive 112
Synonyms	deafness, autosomal recessive 112; DFNB112
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DIS7ECVH: Hearing loss, autosomal recessive 112
Disease Identifiers	MONDO ID MONDO_0032639 UMLS CUI C4748855 OMIM ID 618257 MedGen ID 1648378

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
BDP1	OTJ408I9	Limited	Autosomal recessive	[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.