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GENE - TERM ANNOTATION REPORT

RGD ID: 1562762
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cimip2a
Name: ciliary microtubule inner protein 2A
Acc ID: DOID:0070038
Term: autosomal dominant intellectual developmental disorder 8
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21376300 "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)
Cimip2a ISOCIMIP2A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominantPMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532
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