Details of Disease | DrugMAP

General Information of Disease (ID: DISCTDQB)

Disease Name	Myofibrillar myopathy 10
Synonyms	MFM10
Disease Hierarchy	DISF24LW: Myofibrillar myopathy DISCTDQB: Myofibrillar myopathy 10
Disease Identifiers	MONDO ID MONDO_0033620 UMLS CUI C5436656 OMIM ID 619040 MedGen ID 1769385

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
SVIL	TTBLQS5	Strong	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
SVIL	OTWQQ1WK	Strong	Autosomal recessive	[1]
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References

1	Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles. Brain. 2020 Aug 1;143(8):2406-2420. doi: 10.1093/brain/awaa206.