General Information of Disease (ID: DISAWE6V)

Disease Name Obsolete polyglucosan body myopathy type 1
Disease Hierarchy
DIS01GPL: Grass pollen hypersensitivity
DISAWE6V: Obsolete polyglucosan body myopathy type 1

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RBCK1 TTIKUVC Supportive Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RBCK1 OTOOXC7B Supportive Autosomal recessive [1]
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References

1 Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. Ann Neurol. 2013 Dec;74(6):914-9. doi: 10.1002/ana.23963.