Details of Disease | DrugMAP

General Information of Disease (ID: DISEF521)

Disease Name	Intellectual disability, autosomal dominant 57
Synonyms	MRD57; mental retardation, autosomal dominant 57; intellectual developmental disorder, autosomal dominant 57; TLK2-related neurodevelopmental disorder; TLK2-related syndrome; intellectual disability, autosomal dominant 57
Disease Hierarchy	DISD6L06: Autosomal dominant non-syndromic intellectual disability DISEF521: Intellectual disability, autosomal dominant 57
Disease Identifiers	MONDO ID MONDO_0054837 UMLS CUI C4748003 OMIM ID 618050 MedGen ID 1648280

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
TLK2	OTZ09CG8	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.