Details of Disease

General Information of Disease (ID: DISQTKGI)

Disease Name Developmental and epileptic encephalopathy 104
Synonyms DEE104; developmental and epileptic encephalopathy 104
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISQTKGI: Developmental and epileptic encephalopathy 104
Disease Identifiers
MONDO ID
MONDO_0031021
UMLS CUI
C5774183
OMIM ID
619970
MedGen ID
1823956

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
ATP6V0A1 OT1IK0KA Strong Autosomal dominant [1]
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References

1 ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H(+)-ATPases is essential for brain development in humans and mice. Nat Commun. 2021 Apr 8;12(1):2107. doi: 10.1038/s41467-021-22389-5.