Details of Disease

General Information of Disease (ID: DISK27VF)

Disease Name Developmental and epileptic encephalopathy 106
Synonyms DEE106; developmental and epileptic encephalopathy 106
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISK27VF: Developmental and epileptic encephalopathy 106
Disease Identifiers
MONDO ID
MONDO_0031052
UMLS CUI
C5774212
OMIM ID
620028
MedGen ID
1823985

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
UFSP2 OTTO00PC Limited Unknown [1]
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References

1 Novel genetic causes for cerebral visual impairment. Eur J Hum Genet. 2016 May;24(5):660-5. doi: 10.1038/ejhg.2015.186. Epub 2015 Sep 9.