Details of Disease

General Information of Disease (ID: DISGO90Z)

Disease Name Congenital myopathy 2c, severe infantile, autosomal dominant
Disease Hierarchy
DISLSK9G: Congenital myopathy
DISGO90Z: Congenital myopathy 2c, severe infantile, autosomal dominant
Disease Identifiers
MONDO ID
MONDO_0859523
UMLS CUI
C5830333
OMIM ID
620278
MedGen ID
1840969

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
ACTA1 OTOVGLPG Strong Autosomal dominant [1]
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References

1 His(73), often methylated, is an important structural determinant for actin. A mutagenic analysis of HIS(73) of yeast actin. J Biol Chem. 1999 Dec 24;274(52):37443-9. doi: 10.1074/jbc.274.52.37443.