General Information of Disease (ID: DISKRE24)

Disease Name Brunet-Wagner neurodevelopmental syndrome
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DISKRE24: Brunet-Wagner neurodevelopmental syndrome
Disease Identifiers
MONDO ID
MONDO_0859217
UMLS CUI
C5562056
OMIM ID
619690
MedGen ID
1794266

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
RBL2 OTBQSOE6 Strong Autosomal recessive [1]
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References

1 Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults. Circ Genom Precis Med. 2018 Apr;11(4):e001887. doi: 10.1161/CIRCGEN.117.001887.