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GENE - TERM ANNOTATION REPORT

RGD ID: 1353732
Species: Homo sapiens
RGD Object: Gene
Symbol: FIBP
Name: FGF1 intracellular binding protein
Acc ID: DOID:9007012
Term: THAUVIN-ROBINET-FAIVRE SYNDROME
Definition: An autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. (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)
FIBP IAGP 7240710OMIM  
FIBP EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
FIBP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndromePMID:26660953
FIBP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndromePMID:27183861
FIBP IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndromePMID:25741868
FIBP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome 
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