Details of Disease | DrugMAP

General Information of Disease (ID: DISAB15L)

Disease Name	Intellectual developmental disorder, autosomal dominant 67
Synonyms	MRD67; intellectual developmental disorder, autosomal dominant 67; mental retardation, autosomal dominant 67
Disease Hierarchy	DIS1I87P: Intellectual disability, autosomal dominant DISAB15L: Intellectual developmental disorder, autosomal dominant 67
Disease Identifiers	MONDO ID MONDO_0030964 UMLS CUI C5677006 OMIM ID 619927 MedGen ID 1805690

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
GRIA1	TTVPQTF	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
GRIA1	OT85LOCJ	Strong	Autosomal dominant	[1]
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References

1	Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome. Am J Hum Genet. 2022 Jul 7;109(7):1217-1241. doi: 10.1016/j.ajhg.2022.05.009. Epub 2022 Jun 7.