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GENE - TERM ANNOTATION REPORT

RGD ID: 13844546
Species: Sus scrofa
RGD Object: Gene
Symbol: PIGP
Name: phosphatidylinositol glycan anchor biosynthesis class P
Acc ID: DOID:0080283
Term: developmental and epileptic encephalopathy 55
Definition: A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/32042915/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/28334793 "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)7240710OMIM  
PIGP ISOPIGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 55 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 55PMID:25741868 PMID:28334793 PMID:28492532 PMID:31139695 PMID:32042915
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