Details of Disease

General Information of Disease (ID: DISEY17Q)

Disease Name Auditory neuropathy, autosomal dominant 2
Disease Hierarchy
DISM6GAU: Auditory neuropathy
DISEY17Q: Auditory neuropathy, autosomal dominant 2
Disease Identifiers
MONDO ID
MONDO_0957279
UMLS CUI
C5830542
OMIM ID
620384
MedGen ID
1841178

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
ATP11A OT7M9ZDK Strong Autosomal dominant [1]
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References

1 Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene. Hum Genet. 2022 Apr;141(3-4):431-444. doi: 10.1007/s00439-022-02444-x. Epub 2022 Mar 12.