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GENE - TERM ANNOTATION REPORT

RGD ID: 1320687
Species: Homo sapiens
RGD Object: Gene
Symbol: C9
Name: complement C9
Acc ID: DOID:0060303
Term: complement component 9 deficiency
Definition: A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C9 gene. (DO)
Definition Source(s): https://www.omim.org/entry/613825 "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)
C9 IAGP 7240710OMIM  
C9 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
C9 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Complement component 9 deficiencyPMID:25741868
C9 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: C9-related condition | ClinVar Annotator: match by term: Complement component 9 deficiencyPMID:25741868 PMID:28492532 PMID:9144525 PMID:9570574
C9 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: C9-related condition | ClinVar Annotator: match by term: Complement component 9 deficiencyPMID:25741868 PMID:28492532
C9 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Complement component 9 deficiencyPMID:28492532 PMID:28617419 PMID:9144525 PMID:9570574
C9 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Complement component 9 deficiencyPMID:28492532 PMID:9144525 PMID:9570574
C9 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Complement component 9 deficiencyPMID:11359403 PMID:12596049 PMID:22190594 PMID:25741868 PMID:28492532 PMID:9144525 PMID:9570574 PMID:9703418
C9 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Complement component 9 deficiencyPMID:2241452 PMID:25741868 PMID:28492532 PMID:28617419 PMID:9144525 PMID:9182899 PMID:9570574 PMID:9634479
C9 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Complement component 9 deficiencyPMID:25741868 PMID:28492532 PMID:9634479
C9 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Complement component 9 deficiencyPMID:28492532 PMID:9144525 PMID:9570574 PMID:9634479
C9 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Complement component 9 deficiencyPMID:9570574
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