Details of Disease

General Information of Disease (ID: DISR8AWK)

Disease Name Usher syndrome, type 1M
Synonyms USH1M; USHER SYNDROME, TYPE 1M
Disease Hierarchy
DISYKSRF: Genetic disease
DISR8AWK: Usher syndrome, type 1M
Disease Identifiers
MONDO ID
MONDO_0032841
UMLS CUI
C5231434
OMIM ID
618632
MedGen ID
1684669

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
ESPN OT7Z6LX2 Limited Unknown [1]
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References

1 Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment. J Med Genet. 2018 Jul;55(7):479-488. doi: 10.1136/jmedgenet-2017-105221. Epub 2018 Mar 23.