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GENE - TERM ANNOTATION REPORT

RGD ID: 1566058
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cog7
Name: component of oligomeric golgi complex 7
Acc ID: DOID:0070257
Term: congenital disorder of glycosylation type IIe
Definition: A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15107842 "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)
Cog7 ISOCOG7 (Homo sapiens)7240710OMIM  
Cog7 ISOCOG7 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Cog7 ISOCOG7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: COG7 congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2EPMID:15107842 PMID:16199547 PMID:17356545 PMID:17395513 PMID:17576681 PMID:19577670 PMID:21811164 PMID:25741868 PMID:25741869 PMID:28492532 PMID:30653653 PMID:31785789 PMID:9536098
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