Details of Disease | DrugMAP

General Information of Disease (ID: DISRO9CL)

Disease Name	Hearing loss, autosomal recessive 109
Synonyms	DFNB109; deafness, autosomal recessive 109
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DISRO9CL: Hearing loss, autosomal recessive 109
Disease Identifiers	MONDO ID MONDO_0033202 UMLS CUI C4693935 OMIM ID 618013 MedGen ID 1633308

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
ESRP1	OTNCS4SL	Moderate	Autosomal recessive	[1]
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References

1	ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development. Dev Cell. 2017 Nov 6;43(3):318-331.e5. doi: 10.1016/j.devcel.2017.09.026. Epub 2017 Oct 26.