Details of Disease | DrugMAP

General Information of Disease (ID: DISKXKK2)

Disease Name	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
Disease Hierarchy	DISYKSRF: Genetic disease DISKXKK2: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
Disease Identifiers	MONDO ID MONDO_0859257 UMLS CUI C5677001 OMIM ID 619911 MedGen ID 1805453

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
NR4A2	TT9HKN3	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
NR4A2	OT3F9IR2	Strong	Autosomal dominant	[1]
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References

1	Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. 2012 Apr 4;485(7397):246-50. doi: 10.1038/nature10989.