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GENE - TERM ANNOTATION REPORT

RGD ID: 1306961
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Arhgef15
Name: Rho guanine nucleotide exchange factor 15
Acc ID: DOID:3012
Term: Li-Fraumeni syndrome
Definition: A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Li%E2%80%93Fraumeni_syndrome "DO" "DO", http://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome "DO" "DO", https://www.lfsassociation.org/what-is-lfs/ "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)
Arhgef15 ISOARHGEF15 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Li-Fraumeni syndromePMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:26681312 PMID:28369373 PMID:28492532
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