Details of Disease | DrugMAP

General Information of Disease (ID: DISD3NER)

Disease Name	Kleefstra syndrome 2
Synonyms	KLEFS2; Kleefstra syndrome 2
Disease Hierarchy	DISHH9SN: Kleefstra syndrome DISD3NER: Kleefstra syndrome 2
Disease Identifiers	MONDO ID MONDO_0054701 UMLS CUI C4540395 OMIM ID 617768 MedGen ID 1623903

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
KMT2C	OTC59BCO	Strong	Autosomal dominant	[1]
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References

1	Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. Am J Hum Genet. 2012 Jul 13;91(1):73-82. doi: 10.1016/j.ajhg.2012.05.003. Epub 2012 Jun 21.