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GENE - TERM ANNOTATION REPORT

RGD ID: 11677248
Species: Pan paniscus
RGD Object: Gene
Symbol: PHACTR1
Name: phosphatase and actin regulator 1
Acc ID: DOID:0112206
Term: developmental and epileptic encephalopathy 70
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/30256902/ "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)
PHACTR1 ISOPHACTR1 (Homo sapiens)7240710OMIM  
PHACTR1 ISOPHACTR1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 70PMID:23033978 PMID:25741868 PMID:30256902 PMID:33463715
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