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GENE - TERM ANNOTATION REPORT

RGD ID: 2771
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gucy2c
Name: guanylate cyclase 2C
Acc ID: DOID:0060780
Term: congenital diarrhea 6
Definition: A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/22436048 "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)
Gucy2c ISOGUCY2C (Homo sapiens)7240710OMIM  
Gucy2c ISOGUCY2C (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital diarrhea 6PMID:22436048 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33883099
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