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GENE - TERM ANNOTATION REPORT

RGD ID: 1552917
Species: Mus musculus
RGD Object: Gene
Symbol: C6
Name: complement component 6
Acc ID: DOID:0060299
Term: complement component 6 deficiency
Definition: A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C6 gene. (DO)
Definition Source(s): https://www.omim.org/entry/612446 "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)
C6 ISOC6 (Homo sapiens)7240710OMIM  
C6 ISOC6 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
C6 ISOC6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Complement component 6 deficiencyPMID:10632667 PMID:12653841 PMID:16199547 PMID:17257682 PMID:17576681 PMID:22288589 PMID:22668955 PMID:23537992 PMID:24033266 PMID:24378253 PMID:25741868 PMID:28368462 PMID:28492532 PMID:31440263 PMID:32860008 PMID:7535801 PMID:8512929 PMID:8690922 PMID:8871666 PMID:9472666 PMID:9536098 PMID:9856498
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