Details of Disease | DrugMAP

General Information of Disease (ID: DIS2D26C)

Disease Name	Hearing loss, autosomal recessive 116
Synonyms	deafness, autosomal recessive 116; DFNB116
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DIS2D26C: Hearing loss, autosomal recessive 116
Disease Identifiers	MONDO ID MONDO_0033670 UMLS CUI C5436789 OMIM ID 619093 MedGen ID 1726617

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
CLDN9	OTCKI2IZ	Limited	Unknown	[1]
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References

1	A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss. Hum Genet. 2019 Oct;138(10):1071-1075. doi: 10.1007/s00439-019-02037-1. Epub 2019 Jun 7.