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GENE - TERM ANNOTATION REPORT

RGD ID: 1306546
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gsg1
Name: germ cell associated 1
Acc ID: DOID:0070036
Term: autosomal dominant intellectual developmental disorder 6
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1. (DO)
Definition Source(s): PMID:20890276 "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)
Gsg1 ISOGSG1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605
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