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GENE - TERM ANNOTATION REPORT

RGD ID: 8792970
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Syngap1
Name: synaptic Ras GTPase activating protein 1
Acc ID: DOID:0081181
Term: autosomal recessive intellectual developmental disorder 5
Definition: An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NSUN2 gene on chromosome 5p15. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/22541559/ "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)
Syngap1 ISOSYNGAP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual disability, autosomal recessive 5PMID:23161826 PMID:23708187 PMID:25741868 PMID:26989088 PMID:27334371 PMID:28492532
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