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GENE - TERM ANNOTATION REPORT

RGD ID: 1317379
Species: Mus musculus
RGD Object: Gene
Symbol: Wbp11
Name: WW domain binding protein 11
Acc ID: DOID:9008737
Term: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS
Definition: This is a syndrome characterized by anomalies of the vertebrae, heart, trachea, esophagus, kidneys, and limbs.
Definition Source(s): MIM:619227
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)
Wbp11 ISOWBP11 (Homo sapiens)7240710OMIM  
Wbp11 ISOWBP11 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Vertebral, cardiac, tracheoesophageal, renal, and limb defects | ClinVar Annotator: match by term: WBP11 spliceosomopathyPMID:25741868 PMID:33276377
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