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GENE - TERM ANNOTATION REPORT

RGD ID: 1346671
Species: Homo sapiens
RGD Object: Gene
Symbol: C1QB
Name: complement C1q B chain
Acc ID: DOID:9006341
Term: C1q Deficiency 2
Definition: A C1q deficiency caused by homozygous mutation in the C1QB gene on chromosome 1p36.
Definition Source(s): MIM:620321
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)
C1QB IAGP 7240710OMIM  
C1QB 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)8554872ClinVarClinVar Annotator: match by term: C1Q deficiency 2 | ClinVar Annotator: match by term: C1QB-related conditionPMID:25741868 PMID:28492532
C1QB IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: C1Q deficiency 2PMID:24160257
C1QB 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) 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: C1Q deficiency 2PMID:25741868
C1QB IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: C1QB-related conditionPMID:28492532
C1QB IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: C1Q deficiency 2PMID:25741868 PMID:2894352
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