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GENE - TERM ANNOTATION REPORT

RGD ID: 12480314
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Taok1
Name: TAO kinase 1
Acc ID: DOID:9005813
Term: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
Definition: This disease is an autosomal dominant disorder with a nonspecific phenotype of developmental delay with other possible features.
Definition Source(s): MIM:619575
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)
Taok1 ISOTAOK1 (Homo sapiens)7240710OMIM  
Taok1 ISOTAOK1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Developmental delay with or without intellectual impairment or behavioral abnormalities | ClinVar Annotator: match by term: TAOK1-related conditionPMID:25741868 PMID:28492532 PMID:31230721 PMID:33565190 PMID:35091509 PMID:35928450 PMID:7768349
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