Details of Disease | DrugMAP

General Information of Disease (ID: DISB5A1I)

Disease Name	Periventricular nodular heterotopia 8
Synonyms	PVNH8; PERIVENTRICULAR NODULAR HETEROTOPIA 8
Disease Hierarchy	DISU3ZRI: Periventricular nodular heterotopia DISB5A1I: Periventricular nodular heterotopia 8
Disease Identifiers	MONDO ID MONDO_0032588 UMLS CUI C4748602 OMIM ID 618185 MedGen ID 1648287

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
ARF1	TT70KXY	Strong	Genetic Variation	[1]
ARF1	TT70KXY	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARF1	OT5C4C3L	Definitive	Autosomal dominant	[1]
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References

1	Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. NPJ Genom Med. 2016;1:16036-. doi: 10.1038/npjgenmed.2016.36. Epub 2016 Oct 5.