Details of Disease | DrugMAP

General Information of Disease (ID: DIS5VU3A)

Disease Name	Developmental and epileptic encephalopathy, 60
Synonyms	EIEE60; developmental and epileptic encephalopathy 60; DEE60; epileptic encephalopathy, early infantile, 60
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DIS5VU3A: Developmental and epileptic encephalopathy, 60
Disease Identifiers	MONDO ID MONDO_0033369 UMLS CUI C4693663 OMIM ID 617929 MedGen ID 1638894

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
CNPY3	OTAXC9CB	Limited	Unknown	[1]
------------------------------------------------------------------------------------

References

1	Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy. Am J Hum Genet. 2018 Feb 1;102(2):321-329. doi: 10.1016/j.ajhg.2018.01.004. Epub 2018 Jan 27.