Details of Disease | DrugMAP

General Information of Disease (ID: DISLV6WV)

Disease Name	Intellectual disability, autosomal dominant 27
Synonyms	autosomal dominant non-syndromic intellectual disability 27; mental retardation, autosomal dominant 27; autosomal dominant intellectual disability 27; CSS9; MRD27; intellectual disability, autosomal dominant type 27; mental retardation, autosomal dominant type 27; autosomal dominant mental retardation 27; intellectual disability, autosomal dominant 27; Coffin-Siris syndrome 9
Disease Hierarchy	DIS8L03H: Coffin-Siris syndrome DIS3HIWD: Autosomal dominant disease DISLV6WV: Intellectual disability, autosomal dominant 27
Disease Identifiers	MONDO ID MONDO_0014376 UMLS CUI C4014528 OMIM ID 615866 MedGen ID 862965

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
SOX11	OT4LG7LA	Definitive	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.