Details of Disease | DrugMAP

General Information of Disease (ID: DISTAK5Q)

Disease Name	Intellectual developmental disorder with ocular anomalies and distinctive facial features
Disease Hierarchy	DISYKSRF: Genetic disease DISTAK5Q: Intellectual developmental disorder with ocular anomalies and distinctive facial features
Disease Identifiers	MONDO ID MONDO_0859303 UMLS CUI C5774238 OMIM ID 620086 MedGen ID 1824011

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
MTSS2	OTKMNSBF	Strong	Autosomal dominant	[1]
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References

1	Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.