Details of Disease | DrugMAP

General Information of Disease (ID: DIS453EZ)

Disease Name	Intellectual developmental disorder 61
Synonyms	Mental Retardation, Autosomal Dominant 61; MRD61; INTELLECTUAL DEVELOPMENTAL DISORDER 61
Disease Hierarchy	DISD6L06: Autosomal dominant non-syndromic intellectual disability DIS453EZ: Intellectual developmental disorder 61
Disease Identifiers	MONDO ID MONDO_0032485 UMLS CUI C5231400 OMIM ID 618009 MedGen ID 1684867

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
MED13	OTP5LEJE	Strong	Autosomal dominant	[1]
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References

1	De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Hum Genet. 2018 May;137(5):375-388. doi: 10.1007/s00439-018-1887-y. Epub 2018 May 8.