Details of Disease | DrugMAP

General Information of Disease (ID: DISAEI7N)

Disease Name	Intellectual disability, autosomal dominant 45
Synonyms	autosomal dominant intellectual disability 45; mental retardation, autosomal dominant 45; autosomal dominant mental retardation 45; MRD45; intellectual disability, autosomal dominant 45
Disease Hierarchy	DISD6L06: Autosomal dominant non-syndromic intellectual disability DISAEI7N: Intellectual disability, autosomal dominant 45
Disease Identifiers	MONDO ID MONDO_0030910 UMLS CUI C4539848 OMIM ID 617600 MedGen ID 1616472

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
CIC	OTFXCHNZ	Definitive	Autosomal dominant	[1]
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References

1	Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nat Genet. 2017 Apr;49(4):527-536. doi: 10.1038/ng.3808. Epub 2017 Mar 13.