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GENE - TERM ANNOTATION REPORT

RGD ID: 1308360
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Trio
Name: trio Rho guanine nucleotide exchange factor
Acc ID: DOID:0070074
Term: autosomal dominant intellectual developmental disorder 44
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/26721934 "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)
Trio ISOTRIO (Homo sapiens)7240710OMIM  
Trio ISOTRIO (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Trio ISOTRIO (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALYPMID:12551902 PMID:18388777 PMID:23033978 PMID:23934111 PMID:24038936 PMID:24896178 PMID:25741868 PMID:25741905 PMID:25741916 PMID:26721934 PMID:27418539 PMID:28492532 PMID:28796471 PMID:28928363 PMID:28973398 PMID:31690835 PMID:32109419 PMID:36937954 PMID:36987741
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