Details of Disease | DrugMAP

General Information of Disease (ID: DISGD1O5)

Disease Name	Developmental and epileptic encephalopathy 103
Synonyms	DEE103; developmental and epileptic encephalopathy 103
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DISGD1O5: Developmental and epileptic encephalopathy 103
Disease Identifiers	MONDO ID MONDO_0030957 UMLS CUI C5677002 OMIM ID 619913 MedGen ID 1809962

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
KCNC2	TTGK3ZO	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNC2	OTGUNHB3	Strong	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.