Details of Disease | DrugMAP

General Information of Disease (ID: DISK02XR)

Disease Name	Intellectual disability, autosomal dominant 58
Synonyms	MENTAL RETARDATION, autosomal dominant 58; MRD58
Disease Hierarchy	DISD6L06: Autosomal dominant non-syndromic intellectual disability DISK02XR: Intellectual disability, autosomal dominant 58
Disease Identifiers	MONDO ID MONDO_0020847 UMLS CUI C4748195 OMIM ID 618106 MedGen ID 1648488

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
SET	OTGYYQJO	Strong	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.