Details of Disease | DrugMAP

General Information of Disease (ID: DIS6J0JB)

Disease Name	Intellectual disability, autosomal dominant 54
Synonyms	autosomal dominant intellectual disability 54; autosomal dominant mental retardation 54; MRD54; mental retardation, autosomal dominant 54; intellectual disability, autosomal dominant 54
Disease Hierarchy	DISD6L06: Autosomal dominant non-syndromic intellectual disability DIS6J0JB: Intellectual disability, autosomal dominant 54
Disease Identifiers	MONDO ID MONDO_0030920 UMLS CUI C4540484 OMIM ID 617799 MedGen ID 1614787

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
CAMK2B	OTS9YK3E	Strong	Autosomal dominant	[1]
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References

1	De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003.