Details of Disease | DrugMAP

General Information of Disease (ID: DISDFX9M)

Disease Name	Myofibrillar myopathy 11
Synonyms	myofibrillar myopathy 11; myopathy, congenital, with eccentric cores; MFM11
Disease Hierarchy	DISF24LW: Myofibrillar myopathy DISDFX9M: Myofibrillar myopathy 11
Disease Identifiers	MONDO ID MONDO_0030927 UMLS CUI C5543038 OMIM ID 619178 MedGen ID 1782465

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
UNC45B	OTYKQ9O5	Strong	Autosomal recessive	[1]
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References

1	Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores. Am J Hum Genet. 2020 Dec 3;107(6):1078-1095. doi: 10.1016/j.ajhg.2020.11.002. Epub 2020 Nov 19.