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GENE - TERM ANNOTATION REPORT

RGD ID: 1307074
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cog8
Name: component of oligomeric golgi complex 8
Acc ID: DOID:0070260
Term: congenital disorder of glycosylation type IIh
Definition: A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17220172 "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)
Cog8 ISOCOG8 (Homo sapiens)7240710OMIM  
Cog8 ISOCOG8 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Cog8 ISOCOG8 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CDG IIh | ClinVar Annotator: match by term: COG8-CDGPMID:16199547 PMID:17220172 PMID:17331980 PMID:21811164 PMID:23806237 PMID:25741868 PMID:28492532 PMID:30690882
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