Details of Disease | DrugMAP

General Information of Disease (ID: DISMK6ZJ)

Disease Name	Myopathy, myosin storage, autosomal recessive
Synonyms	myopathy, hyaline body, autosomal recessive; MSMB; autosomal recessive myosin storage myopathy; myopathy, myosin storage, autosomal recessive
Disease Hierarchy	DISLSK9G: Congenital myopathy DISMK6ZJ: Myopathy, myosin storage, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0009708 MESH ID C564970 UMLS CUI C1850709 OMIM ID 255160 MedGen ID 340603

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MYH7	TTNIMDP	Strong	Autosomal recessive	[1]
MYH7	TTNIMDP	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYH7	OT4Z9T8N	Strong	Autosomal recessive	[1]
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References

1	Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy. Neurology. 2007 Mar 20;68(12):962. doi: 10.1212/01.wnl.0000257131.13438.2c.
2	Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.