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GENE - TERM ANNOTATION REPORT

RGD ID: 14178856
Species: Sus scrofa
RGD Object: Gene
Symbol: GRIN1
Name: glutamate ionotropic receptor NMDA type subunit 1
Acc ID: DOID:0070387
Term: developmental and epileptic encephalopathy 101
Definition: A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/34611970/ "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)
GRIN1 ISOGRIN1 (Homo sapiens)7240710OMIM  
GRIN1 ISOGRIN1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy 101PMID:25741868 PMID:27164704 PMID:28492532 PMID:31219694 PMID:34611970
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