Details of Disease | DrugMAP

General Information of Disease (ID: DIS9Y6F2)

Disease Name	Hearing loss, autosomal recessive 119
Synonyms	deafness, autosomal recessive 119; DFNB119
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DIS9Y6F2: Hearing loss, autosomal recessive 119
Disease Identifiers	MONDO ID MONDO_0030480 UMLS CUI C5562023 OMIM ID 619615 MedGen ID 1794233

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
AFG2B	OTYWPNEI	Strong	Autosomal recessive	[1]
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References

1	Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi: 10.1016/j.ajhg.2021.08.003.