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GENE - TERM ANNOTATION REPORT

RGD ID: 2733
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Grik2
Name: glutamate ionotropic receptor kainate type subunit 2
Acc ID: DOID:9005714
Term: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES
Definition: This disease is characterized by axial hypotonia and global developmental delay apparent in early infancy.
Definition Source(s): OMIM:619580
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)
Grik2 ISOGRIK2 (Homo sapiens)7240710OMIM  
Grik2 ISOGRIK2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired language and ataxia and with or without seizuresPMID:25741868 PMID:25741915 PMID:28180184 PMID:28492532 PMID:34375587
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