Details of Disease | DrugMAP

General Information of Disease (ID: DIS3T8AT)

Disease Name	Intellectual disability, autosomal dominant 50
Synonyms	MRD50; autosomal dominant mental retardation 50; autosomal dominant intellectual disability 50; mental retardation, autosomal dominant 50; intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities; intellectual disability, autosomal dominant 50; intellectual developmental disorder, autosomal dominant 50, with behavioural abnormalities
Disease Hierarchy	DISD6L06: Autosomal dominant non-syndromic intellectual disability DIS3T8AT: Intellectual disability, autosomal dominant 50
Disease Identifiers	MONDO ID MONDO_0030916 UMLS CUI C4540470 OMIM ID 617787 MedGen ID 1616989

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
NAA15	OT53SIZG	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.