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GENE - TERM ANNOTATION REPORT

RGD ID: 1594557
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cfp
Name: complement factor properdin
Acc ID: DOID:0111768
Term: X-linked properdin deficiency
Definition: A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/8530058 "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)
Cfp ISOCFP (Homo sapiens)7240710OMIM  
Cfp ISOCFP (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:8530058 PMID:10909851
Cfp ISOCFP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CFP-related condition | ClinVar Annotator: match by term: Properdin deficiency, X-linked | ClinVar Annotator: match by term: Properdin deficiency, type II | ClinVar Annotator: match by term: Properdin deficiency, type IIIPMID:10909851 PMID:25741868 PMID:28492532 PMID:3380115 PMID:7151327 PMID:8530058 PMID:8871668
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