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GENE - TERM ANNOTATION REPORT

RGD ID: 1304653
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ccdc115
Name: coiled-coil domain containing 115
Acc ID: DOID:0070267
Term: congenital disorder of glycosylation type IIo
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/26833332 "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)
Ccdc115 ISOCCDC115 (Homo sapiens)7240710OMIM  
Ccdc115 ISOCCDC115 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Ccdc115 ISOCCDC115 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CCDC115-CDGPMID:24033266 PMID:25741868 PMID:26833332 PMID:28492532 PMID:29759592 PMID:33413482
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