Details of Disease

General Information of Disease (ID: DISCUKM0)

Disease Name Neurodevelopmental disorder with seizures and gingival overgrowth
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DISCUKM0: Neurodevelopmental disorder with seizures and gingival overgrowth
Disease Identifiers
MONDO ID
MONDO_0859148
UMLS CUI
C5543395
OMIM ID
619323
MedGen ID
1784299

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
TBC1D2B OT1GVN5H Strong Autosomal recessive [1]
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References

1 The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014 Nov 13;515(7526):216-21. doi: 10.1038/nature13908. Epub 2014 Oct 29.