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VARIANT - TERM ANNOTATION REPORT

CRRD ID: 8560529
Species: Homo sapiens
CRRD Object: Variant
Symbol: CV23579
Name: SMAD4, 4-BP DEL, NT1372
Acc ID: DOID:0050787
Term: juvenile polyposis syndrome
Definition: An autosomal dominant 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, http://www.cancer.net/cancer-types/juvenile-polyposis-syndrome, http://www.ncbi.nlm.nih.gov/books/NBK1469/
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 IAGP 8554872ClinVarClinVar Annotator: match by term: Juvenile polyposis syndrome

PMID:10398437, PMID:11920286, PMID:9582123
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.