Details of Disease

General Information of Disease (ID: DISSUX1E)

Disease Name Developmental and epileptic encephalopathy 96
Synonyms DEE96
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISSUX1E: Developmental and epileptic encephalopathy 96
Disease Identifiers
MONDO ID
MONDO_0023659
UMLS CUI
C5543446
OMIM ID
619340
MedGen ID
1780167

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
NSF OTKRJ2ZT Limited Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.