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GENE - TERM ANNOTATION REPORT

RGD ID: 1307205
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pigp
Name: phosphatidylinositol glycan anchor biosynthesis, class P
Acc ID: DOID:0112202
Term: developmental and epileptic encephalopathy
Definition: An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/28276062/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/31926847/ "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)
Pigp ISOPIGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathyPMID:25741868 PMID:28334793 PMID:28492532 PMID:31139695 PMID:32042915
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