Details of Disease | DrugMAP

General Information of Disease (ID: DISBPXM2)

Disease Name	Developmental and epileptic encephalopathy 110
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DISBPXM2: Developmental and epileptic encephalopathy 110
Disease Identifiers	MONDO ID MONDO_0859327 UMLS CUI C5774265 OMIM ID 620149 MedGen ID 1824038

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
CACNA2D1	TTFK1JQ	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
CACNA2D1	OT5YLZIH	Limited	Autosomal recessive	[1]
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References

1	The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014 Nov 13;515(7526):216-21. doi: 10.1038/nature13908. Epub 2014 Oct 29.