Details of Disease

General Information of Disease (ID: DISY1Y6T)

Disease Name Epilepsy, early-onset, with or without developmental delay
Synonyms EPEDD; epilepsy, early-onset, with or without developmental delay; EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY
Disease Hierarchy
DISSF6IE: Epilepsy, early-onset
DISY1Y6T: Epilepsy, early-onset, with or without developmental delay
Disease Identifiers
MONDO ID
MONDO_0030005
UMLS CUI
C5394228
OMIM ID
618832
MedGen ID
1709942

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
SETD1A OTVVWRIC Limited Autosomal dominant [1]
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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.