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GENE - TERM ANNOTATION REPORT

RGD ID: 3033
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Smad4
Name: SMAD family member 4
Acc ID: DOID:6225
Term: Cronkhite-Canada syndrome
Definition: A stomach disease characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/21881972/ "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)
Smad4 ISOSMAD4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Gastrointestinal polyposisPMID:21835029 PMID:22703879 PMID:23399955 PMID:25148578 PMID:25186627 PMID:25318351 PMID:25589618 PMID:25637381 PMID:25741868 PMID:25980754 PMID:26467025 PMID:27153395 PMID:27443514 PMID:28196074 PMID:28492532 PMID:30842500 PMID:32573726
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