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GENE - TERM ANNOTATION REPORT

RGD ID: 14004824
Species: Sus scrofa
RGD Object: Gene
Symbol: PTEN
Name: phosphatase and tensin homolog
Acc ID: DOID:0050787
Term: juvenile polyposis syndrome
Definition: A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome "DO" "DO", http://www.cancer.net/cancer-types/juvenile-polyposis-syndrome "DO" "DO", http://www.ncbi.nlm.nih.gov/books/NBK1469/ "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)
PTEN ISOPTEN (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndromePMID:14526373 PMID:16287957 PMID:16685657 PMID:18456716 PMID:18510548 PMID:21194675 PMID:22993021 PMID:23331837 PMID:23335809 PMID:23399955 PMID:28492532 PMID:9286463 PMID:9467011
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