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GENE - TERM ANNOTATION REPORT

RGD ID: 18451849
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: ALDH7A1
Name: aldehyde dehydrogenase 7 family member A1
Acc ID: DOID:0080445
Term: developmental and epileptic encephalopathy 13
Definition: A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13. (DO)
Definition Source(s): PMID:22365152 "DO" "DO", PMID:24888894 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
ALDH7A1 ISOALDH7A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13PMID:20554659 PMID:25741868 PMID:28492532
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