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GENE - TERM ANNOTATION REPORT

RGD ID: 3411
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Proc
Name: protein C, inactivator of coagulation factors Va and VIIIa
Acc ID: DOID:0111909
Term: autosomal dominant thrombophilia due to protein C deficiency
Definition: A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/10942114/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/2437584/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/6547008/ "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)7240710OMIM  
Proc ISOPROC (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary thrombophilia due to congenital protein C deficiency | ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominantPMID:10669160 PMID:10805275 PMID:10942114 PMID:11019966 PMID:11336399 PMID:11380450 PMID:1301954 PMID:1301959 PMID:1347608 PMID:14642106 PMID:1464619 PMID:1469096 PMID:1498334 PMID:1511988 PMID:1511989 PMID:1593215 PMID:16199547 PMID:1678832 PMID:16867987 PMID:17152060 PMID:17576681 PMID:17635713 PMID:17649706 PMID:1771629 PMID:18573519 PMID:1868249 PMID:18954896 PMID:19535131 PMID:20815936 PMID:21621249 PMID:21744130 PMID:21901152 PMID:22353194 PMID:22425321 PMID:22545135 PMID:22576310 PMID:22627591 PMID:22817391 PMID:22944127 PMID:23174622 PMID:23332921 PMID:23389250 PMID:24028705 PMID:24103874 PMID:24122877 PMID:24162787 PMID:24300144 PMID:2437584 PMID:24782131 PMID:24911457 PMID:25039884 PMID:25393254 PMID:25525159 PMID:25533856 PMID:25637381 PMID:25648792 PMID:25712501 PMID:25741868 PMID:25741909 PMID:25741915 PMID:25748729 PMID:2602169 PMID:26250584 PMID:27081530 PMID:27172833 PMID:27517348 PMID:2783855 PMID:27838551 PMID:27995882 PMID:28111891 PMID:28174134 PMID:28468828 PMID:28492532 PMID:28607330 PMID:29356699 PMID:29536478 PMID:2991887 PMID:30439769 PMID:30632992 PMID:31064749 PMID:31254973 PMID:31295762 PMID:31521534 PMID:31592240 PMID:31821907 PMID:3185623 PMID:31980526 PMID:32717757 PMID:34355501 PMID:34650936 PMID:35026611 PMID:35112923 PMID:6589623 PMID:7482420 PMID:7605880 PMID:7670104 PMID:7740502 PMID:7792728 PMID:7795150 PMID:7831652 PMID:7841324 PMID:7865674 PMID:7881411 PMID:7894031 PMID:7913773 PMID:7951255 PMID:8093743 PMID:8128429 PMID:8165644 PMID:8218861 PMID:8292730 PMID:8324221 PMID:8400292 PMID:8446940 PMID:8462980 PMID:8477066 PMID:8499565 PMID:8499568 PMID:8505327 PMID:8639775 PMID:8704244 PMID:8807339 PMID:8845458 PMID:8883262 PMID:8972002 PMID:9536098 PMID:9553065 PMID:9683579 PMID:9798967 PMID:9840027
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