Details of Disease | DrugMAP

General Information of Disease (ID: DISQ7LQ3)

Disease Name	Autosomal recessive nonsyndromic hearing loss 93
Synonyms	deafness, autosomal recessive 93; autosomal recessive deafness 93; autosomal recessive nonsyndromic deafness type 93; deafness, autosomal recessive type 93; CABP2 autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness 93; DFNB93; autosomal recessive nonsyndromic deafness caused by mutation in CABP2; autosomal recessive nonsyndromic hearing loss 93
Definition	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene.
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DISQ7LQ3: Autosomal recessive nonsyndromic hearing loss 93
Disease Identifiers	MONDO ID MONDO_0013963 UMLS CUI C3888355 OMIM ID 614899 MedGen ID 854875

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
CABP2	OTOD9DW9	Strong	Autosomal recessive	[1]
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References

1	A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. Am J Hum Genet. 2012 Oct 5;91(4):636-45. doi: 10.1016/j.ajhg.2012.08.018. Epub 2012 Sep 13.