Details of Disease | DrugMAP

General Information of Disease (ID: DIS7WBOO)

Disease Name	Myopathy, centronuclear, 6, with fiber-type disproportion
Synonyms	CNM6; myopathy, centronuclear, 6, with FIBER-type disproportion; centronuclear myopathy 6 with fiber-type disproportion; myopathy, centronuclear, 6, with fiber-type disproportion
Disease Hierarchy	DISXBEJO: Centronuclear myopathy DIS7WBOO: Myopathy, centronuclear, 6, with fiber-type disproportion
Disease Identifiers	MONDO ID MONDO_0054695 UMLS CUI C4540345 OMIM ID 617760 MedGen ID 1627492

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
MAP3K20	TTTUZ3O	Moderate	Autosomal recessive	[1]
MAP3K20	TTTUZ3O	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MAP3K20	OT0ALMEG	Moderate	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	Autozygome and high throughput confirmation of disease genes candidacy. Genet Med. 2019 Mar;21(3):736-742. doi: 10.1038/s41436-018-0138-x. Epub 2018 Sep 21.