Details of Disease

General Information of Disease (ID: DIS3LUS4)

Disease Name Oculopharyngodistal myopathy 2
Synonyms OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2; oculopharyngodistal myopathy 2
Disease Hierarchy
DISGCD9O: Oculopharyngodistal myopathy
DIS3LUS4: Oculopharyngodistal myopathy 2
Disease Identifiers
MONDO ID
MONDO_0030134
UMLS CUI
C5394548
OMIM ID
618940
MedGen ID
1718769

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
GIPC1 OTXLVCPJ Strong Autosomal dominant [1]
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References

1 Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy. Am J Hum Genet. 2020 Jun 4;106(6):793-804. doi: 10.1016/j.ajhg.2020.04.011. Epub 2020 May 14.