Details of Disease | DrugMAP

General Information of Disease (ID: DIS2PPFO)

Disease Name	Intellectual disability, autosomal dominant 51
Synonyms	mental retardation, autosomal dominant 51; autosomal dominant mental retardation 51; autosomal dominant intellectual disability 51; MRD51; intellectual disability, autosomal dominant 51
Disease Hierarchy	DISD6L06: Autosomal dominant non-syndromic intellectual disability DIS2PPFO: Intellectual disability, autosomal dominant 51
Disease Identifiers	MONDO ID MONDO_0030917 UMLS CUI C4540474 OMIM ID 617788 MedGen ID 1625009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KMT5B	TTJGV7F	Strong	Autosomal dominant	[1]
KMT5B	TTJGV7F	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KMT5B	OTOH7G8Q	Strong	Autosomal dominant	[1]
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References

1	De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 2012 Apr 4;485(7397):237-41. doi: 10.1038/nature10945.
2	Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21.