Details of Disease

General Information of Disease (ID: DISCLZYV)

Disease Name Oculopharyngodistal myopathy 4
Synonyms OPDM4; oculopharyngodistal myopathy 4
Disease Hierarchy
DISGCD9O: Oculopharyngodistal myopathy
DISCLZYV: Oculopharyngodistal myopathy 4
Disease Identifiers
MONDO ID
MONDO_0030712
UMLS CUI
C5676941
OMIM ID
619790
MedGen ID
1809981

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
RILPL1 OTW4LHU8 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.