Details of Disease | DrugMAP

General Information of Disease (ID: DIS2WSW1)

Disease Name	Hearing loss, autosomal recessive 113
Synonyms	deafness, autosomal recessive 113; DFNB113
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DIS2WSW1: Hearing loss, autosomal recessive 113
Disease Identifiers	MONDO ID MONDO_0032732 UMLS CUI C5193079 OMIM ID 618410 MedGen ID 1674289

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
CEACAM16	OTUMUSY0	Strong	Autosomal recessive	[1]
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References

1	Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment. J Med Genet. 2018 Aug;55(8):555-560. doi: 10.1136/jmedgenet-2018-105349. Epub 2018 Apr 27.