Details of Disease

General Information of Disease (ID: DISHV05H)

Disease Name Hearing loss, autosomal recessive 120
Synonyms deafness, autosomal recessive 120
Disease Hierarchy
DIS8G9R9: Hearing loss, autosomal recessive
DISHV05H: Hearing loss, autosomal recessive 120
Disease Identifiers
MONDO ID
MONDO_0859374
UMLS CUI
C5774309
OMIM ID
620238
MedGen ID
1824082

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
MINAR2 OTDGVXJ6 Limited Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.