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GENE - TERM ANNOTATION REPORT

RGD ID: 708530
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cyp4v3
Name: cytochrome P450, family 4, subfamily v, polypeptide 3
Acc ID: DOID:2229
Term: factor XI deficiency
Definition: A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/factor-xi-deficiency "DO" "DO", https://www.omim.org/entry/612416 "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)
Cyp4v3 ISOCYP4V2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary factor XI deficiency diseasePMID:25741868 PMID:32581362 PMID:34355501
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