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GENE - TERM ANNOTATION REPORT

RGD ID: 14170678
Species: Sus scrofa
RGD Object: Gene
Symbol: PROC
Name: protein C, inactivator of coagulation factors Va and VIIIa
Acc ID: DOID:3756
Term: protein C deficiency
Definition: A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/10942114/ "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)
PROC ISOPROC (Homo sapiens)9068941RGDDNA:missense mutation:exon:p.A259T (8490G>A) (human)PMID:11434940 REF_RGD_ID:11099984
PROC ISOPROC (Homo sapiens)9068941RGDDNA:missense mutation:exon:p.R87H (3203G>A) (human)PMID:8845458 REF_RGD_ID:11099985
PROC ISOPROC (Homo sapiens)9068941RGDDNA:missense mutations:cds:p.L223F, p.I403M (human)PMID:8128429 REF_RGD_ID:1578392
PROC ISOPROC (Homo sapiens)9068941CTDCTD Direct Evidence: marker/mechanism|therapeuticPMID:14707701 PMID:18376272 PMID:21445774 PMID:33761690
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