Details of Disease | DrugMAP

General Information of Disease (ID: DISVM1IO)

Disease Name	Oculopharyngodistal myopathy 1
Synonyms	oculopharyngodistal myopathy; oculopharyngodistal myopathy 1; OPDM1; faciooculolaryngopharyngeal myopathy with distal and respiratory involvement
Disease Hierarchy	DISGCD9O: Oculopharyngodistal myopathy DISVM1IO: Oculopharyngodistal myopathy 1
Disease Identifiers	MONDO ID MONDO_0020793 UMLS CUI C5231388 OMIM ID 164310 MedGen ID 1684682

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
LRP12	OTRT1UJ7	Strong	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.