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GENE - TERM ANNOTATION REPORT

RGD ID: 621365
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Epcam
Name: epithelial cell adhesion molecule
Acc ID: DOID:0070270
Term: hereditary nonpolyposis colorectal cancer type 8
Definition: A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19098912 "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)
Epcam ISOEPCAM (Homo sapiens)7240710OMIM  
Epcam ISOEPCAM (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Epcam ISOEPCAM (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 8PMID:16951683 PMID:19098912 PMID:23462293 PMID:24033266 PMID:24142340 PMID:25741868 PMID:28492532 PMID:28701297
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