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GENE - TERM ANNOTATION REPORT

RGD ID: 18933700
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Grin2a
Name: glutamate ionotropic receptor NMDA type subunit 2A
Acc ID: DOID:9001150
Term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
Definition: An autosomal recessive disorder characterized by severe global developmental delay.
Definition Source(s): MIM:618622
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)
Grin2a ISOGRIN2A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Abnormality of the cerebrumPMID:16199547 PMID:23933818 PMID:23933819 PMID:23933820 PMID:25741868 PMID:28102150 PMID:28492532 PMID:29124671 PMID:29358611 PMID:30544257 PMID:7574460
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