Details of Disease | DrugMAP

General Information of Disease (ID: DISM9ZN0)

Disease Name	Hearing loss, autosomal dominant 78
Synonyms	DFNA78; deafness, autosomal dominant 78
Disease Hierarchy	DISYC1G0: Autosomal dominant nonsyndromic hearing loss DISM9ZN0: Hearing loss, autosomal dominant 78
Disease Identifiers	MONDO ID MONDO_0033665 UMLS CUI C5436768 OMIM ID 619081 MedGen ID 1777362

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC12A2	DTHKL3Q	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC12A2	OT3ZJ3LH	Strong	Autosomal dominant	[1]
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References

1	Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans. PLoS Genet. 2020 Apr 15;16(4):e1008643. doi: 10.1371/journal.pgen.1008643. eCollection 2020 Apr.