Details of Disease | DrugMAP

General Information of Disease (ID: DISPC1E2)

Disease Name	Neurodevelopmental disorder with or without autism or seizures
Synonyms	neurodevelopmental disorder with or without autism or seizures; NEDAUS
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISPC1E2: Neurodevelopmental disorder with or without autism or seizures
Disease Identifiers	MONDO ID MONDO_0030994 UMLS CUI C5543225 OMIM ID 619239 MedGen ID 1784023

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
CUL3	TTPCU0Q	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CUL3	OTDNOAPM	Strong	Autosomal dominant	[1]
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References

1	De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms. J Hum Genet. 2020 Sep;65(9):727-734. doi: 10.1038/s10038-020-0758-2. Epub 2020 Apr 27.