Details of Disease | DrugMAP

General Information of Disease (ID: DIS5GN3Y)

Disease Name	Congenital myopathy 18
Disease Hierarchy	DISLSK9G: Congenital myopathy DIS5GN3Y: Congenital myopathy 18
Disease Identifiers	MONDO ID MONDO_0859514 UMLS CUI C5830283 OMIM ID 620246 MedGen ID 1840919

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
CACNA1S	TT94HRF	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
CACNA1S	OT96MCM2	Strong	Autosomal recessive	[1]
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References

1	Novel pathogenic variants and genes for myopathies identified by whole exome sequencing. Mol Genet Genomic Med. 2015 Jul;3(4):283-301. doi: 10.1002/mgg3.142. Epub 2015 Apr 8.