Details of Disease | DrugMAP

General Information of Disease (ID: DISU9X3F)

Disease Name	Intellectual disability and myopathy syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISU9X3F: Intellectual disability and myopathy syndrome
Disease Identifiers	MONDO ID MONDO_0859224 UMLS CUI C5676904 OMIM ID 619719 MedGen ID 1808193

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCC9	DT3JCE6	Limited	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
ABCC9	OTGAXLQN	Limited	Autosomal recessive	[1]
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References

1	ABCC9-related Intellectual disability Myopathy Syndrome is a K(ATP) channelopathy with loss-of-function mutations in ABCC9. Nat Commun. 2019 Oct 1;10(1):4457. doi: 10.1038/s41467-019-12428-7.