Details of Disease | DrugMAP

General Information of Disease (ID: DISUNM3G)

Disease Name	Autosomal dominant nonsyndromic hearing loss 2B
Synonyms	autosomal dominant nonsyndromic deafness 2B; autosomal dominant nonsyndromic deafness type 2B; autosomal dominant deafness 2B; deafness, autosomal dominant 2b; autosomal dominant nonsyndromic deafness caused by mutation in GJB3; deafness, autosomal dominant type 2B; GJB3 autosomal dominant nonsyndromic deafness; DFNA2B; deafness, autosomal dominant 2B
Definition	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene.
Disease Hierarchy	DISYC1G0: Autosomal dominant nonsyndromic hearing loss DISUNM3G: Autosomal dominant nonsyndromic hearing loss 2B
Disease Identifiers	MONDO ID MONDO_0012976 MESH ID C567214 UMLS CUI C2675236 OMIM ID 612644 MedGen ID 390742

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJB3	TTVRQ8L	Limited	Genetic Variation	[1]
GJB3	TTVRQ8L	Moderate	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GJB3	OTLJ59E7	Moderate	Autosomal dominant	[2]
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References

1	Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet. 1998 Dec;20(4):370-3. doi: 10.1038/3845.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.