Details of Disease

General Information of Disease (ID: DISB301M)

Disease Name Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
Disease Hierarchy
DISQD6JG: Epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features
DISB301M: Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
Disease Identifiers
MONDO ID
MONDO_0859564
UMLS CUI
C5774178
OMIM ID
301091
MedGen ID
1823952

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GABRA3 TT37EDJ Definitive X-linked [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GABRA3 OTG5BU3A Definitive X-linked [1]
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References

1 Cardiac valve involvement in ADAR-related type I interferonopathy. J Med Genet. 2020 Jul;57(7):475-478. doi: 10.1136/jmedgenet-2019-106457. Epub 2019 Nov 26.