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GENE - TERM ANNOTATION REPORT

RGD ID: 1305660
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Fbxl3
Name: F-box and leucine-rich repeat protein 3
Acc ID: DOID:9005631
Term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
Definition: IDDSFAS is caused by homozygous mutation in the FBXL3 gene on chromosome 13q22. (OMIM)
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)
Fbxl3 ISOFBXL3 (Homo sapiens)7240710OMIM  
Fbxl3 ISOFBXL3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual disability, short stature, facial anomalies, and joint dislocationsPMID:11477608 PMID:25741868 PMID:30481285
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