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GENE - TERM ANNOTATION REPORT

RGD ID: 731784
Species: Homo sapiens
RGD Object: Gene
Symbol: GRIN1
Name: glutamate ionotropic receptor NMDA type subunit 1
Acc ID: HP:0000256
Term: Macrocephaly
Definition: Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Definition Source(s): PMID:19125436
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 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: large head

PMID:25741868 PMID:27159321 PMID:28492532 PMID:30755392
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