Details of Disease

General Information of Disease (ID: DISPBL05)

Disease Name Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
Disease Hierarchy
DISF24LW: Myofibrillar myopathy
DISPBL05: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
Disease Identifiers
MONDO ID
MONDO_0859168
UMLS CUI
C5561937
OMIM ID
619424
MedGen ID
1794147

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
MYL2 OT78PC0C Moderate 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.