Details of Disease

General Information of Disease (ID: DIS9Z9TQ)

Disease Name Developmental and epileptic encephalopathy 101
Synonyms DEE101; developmental and epileptic encephalopathy 101
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DIS9Z9TQ: Developmental and epileptic encephalopathy 101
Disease Identifiers
MONDO ID
MONDO_0030727
UMLS CUI
C5676955
OMIM ID
619814
MedGen ID
1805172

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
GRIN1 TTLD29N Strong Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GRIN1 OTZ5YBO8 Strong Autosomal recessive [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.