Details of Disease

General Information of Disease (ID: DIS88LZ1)

Disease Name Auditory neuropathy, autosomal dominant 3
Disease Hierarchy
DISM6GAU: Auditory neuropathy
DIS88LZ1: Auditory neuropathy, autosomal dominant 3
Disease Identifiers
MONDO ID
MONDO_0859235
UMLS CUI
C5676964
OMIM ID
619832
MedGen ID
1805371

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
TMEM43 OTM9RS9G Limited Autosomal dominant [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.