General Information of Disease (ID: DISTY0KJ)

Disease Name Hearing loss, autosomal recessive 114
Synonyms deafness, autosomal recessive 114; DFNB114
Disease Hierarchy
DIS8G9R9: Hearing loss, autosomal recessive
DISTY0KJ: Hearing loss, autosomal recessive 114
Disease Identifiers
MONDO ID
MONDO_0032761
UMLS CUI
C5193107
OMIM ID
618456
MedGen ID
1684024

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
GRAP OTO1P7YX Limited Autosomal recessive [1]
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References

1 Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss. Proc Natl Acad Sci U S A. 2019 Jan 22;116(4):1347-1352. doi: 10.1073/pnas.1810951116. Epub 2019 Jan 4.