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GENE - TERM ANNOTATION REPORT

RGD ID: 1589822
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cog2
Name: component of oligomeric golgi complex 2
Acc ID: DOID:0070269
Term: congenital disorder of glycosylation type IIq
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24784932 "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)
Cog2 ISOCOG2 (Homo sapiens)7240710OMIM  
Cog2 ISOCOG2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Cog2 ISOCOG2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIqPMID:17576681 PMID:24784932 PMID:25741868 PMID:28492532 PMID:32293671 PMID:9536098
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