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GENE - TERM ANNOTATION REPORT

RGD ID: 736755
Species: Homo sapiens
RGD Object: Gene
Symbol: ALAS2
Name: 5'-aminolevulinate synthase 2
Acc ID: DOID:0080470
Term: developmental and epileptic encephalopathy 36
Definition: A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23033978 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/26138355 "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)
ALAS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital disorder of glycosylation, type IsPMID:21653323 PMID:23409301 PMID:25741868 PMID:28492532 PMID:30678654
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