Details of Disease | DrugMAP

General Information of Disease (ID: DIST33T1)

Disease Name	Hydrocephalus, congenital, 5, susceptibility to
Disease Hierarchy	DIS98MYE: Inherited disease susceptibility DIST33T1: Hydrocephalus, congenital, 5, susceptibility to
Disease Identifiers	MONDO ID MONDO_0859376 UMLS CUI C5830272 OMIM ID 620241 MedGen ID 1840908

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
SMARCC1	OTUOMBE7	Strong	Autosomal dominant	[1]
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References

1	A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin. Ann Neurol. 2018 Feb;83(2):433-436. doi: 10.1002/ana.25152. Epub 2018 Feb 9.