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GENE - TERM ANNOTATION REPORT

RGD ID: 12241528
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: STXBP1
Name: syntaxin binding protein 1
Acc ID: DOID:1059
Term: intellectual disability
Definition: A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. (DO)
Definition Source(s): http://aaidd.org/intellectual-disability/definition#.WsPDT2VvqaU "DO" "DO", https://en.wikipedia.org/wiki/Intellectual_disability "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)
STXBP1 ISOSTXBP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severePMID:20887364 PMID:21770924 PMID:22612257 PMID:23708187 PMID:23934111 PMID:24033266 PMID:24189369 PMID:24315539 PMID:25008876 PMID:25418441 PMID:25533962 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26514728 PMID:26544041 PMID:26633542 PMID:26865513 PMID:26918652 PMID:27159321 PMID:27779742 PMID:28133863 PMID:28135719 PMID:28492532 PMID:30842647 PMID:32581362
STXBP1 ISOSTXBP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Severe intellectual deficiencyPMID:20887364 PMID:21770924 PMID:22612257 PMID:23708187 PMID:23934111 PMID:24033266 PMID:24189369 PMID:24315539 PMID:25008876 PMID:25418441 PMID:25533962 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26514728 PMID:26544041 PMID:26633542 PMID:26865513 PMID:26918652 PMID:27159321 PMID:27779742 PMID:28133863 PMID:28135719 PMID:28492532 PMID:29067685 PMID:29186148 PMID:30185235 PMID:30842647 PMID:31855252 PMID:32581362 PMID:32725632 PMID:33196034 PMID:35190816 PMID:36440324
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