Details of Disease

General Information of Disease (ID: DISNUCGV)

Disease Name Myopathy, congenital proximal, with minicore lesions
Synonyms MYOPMIL; MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS
Disease Hierarchy
DISLSK9G: Congenital myopathy
DISNUCGV: Myopathy, congenital proximal, with minicore lesions
Disease Identifiers
MONDO ID
MONDO_0032937
UMLS CUI
C5394193
OMIM ID
618823
MedGen ID
1717569

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
FXR1 OTEMQ1SR Limited Autosomal recessive [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.