Details of Disease

General Information of Disease (ID: DISWKLN1)

Disease Name Periventricular nodular heterotopia 9
Synonyms PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9; periventricular nodular heterotopia 9
Disease Hierarchy
DISU3ZRI: Periventricular nodular heterotopia
DISWKLN1: Periventricular nodular heterotopia 9
Disease Identifiers
MONDO ID
MONDO_0030061
UMLS CUI
C5394503
OMIM ID
618918
MedGen ID
1718470

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
MAP1B OTVXW089 Strong Autosomal dominant [1]
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References

1 De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018 May 8;14(5):e1007281. doi: 10.1371/journal.pgen.1007281. eCollection 2018 May.