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GENE - TERM ANNOTATION REPORT

RGD ID: 9016445
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: F2
Name: coagulation factor II, thrombin
Acc ID: DOID:9007075
Term: Congenital Prothrombin Deficiency
Definition: n extremely rare autosomal recessive bleeding disorder characterized by low levels of circulating prothrombin. There are 2 main types: type I deficiency, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein.
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)
F2 ISOF2 (Homo sapiens)7240710OMIM  
F2 ISOF2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital prothrombin deficiency | ClinVar Annotator: match by term: Hereditary factor II deficiency disease | ClinVar Annotator: match by term: Prolonged prothrombin timePMID:10027711 PMID:10233438 PMID:10233439 PMID:10336270 PMID:10348710 PMID:10348711 PMID:10348712 PMID:10406905 PMID:10477778 PMID:10544935 PMID:10651742 PMID:11154146 PMID:11358905 PMID:11443298 PMID:11506076 PMID:11796466 PMID:11874997 PMID:11904676 PMID:12149217 PMID:13217497 PMID:13228032 PMID:1334372 PMID:1349838 PMID:1421398 PMID:14489469 PMID:14629473 PMID:15059842 PMID:15534175 PMID:1557383 PMID:16199547 PMID:16487178 PMID:16493002 PMID:16606808 PMID:19159930 PMID:19289024 PMID:19531787 PMID:19554541 PMID:19560233 PMID:19598065 PMID:19652888 PMID:20301327 PMID:21243428 PMID:21349849 PMID:2222810 PMID:23429074 PMID:23711336 PMID:23852823 PMID:24033266 PMID:2429850 PMID:25741868 PMID:26192110 PMID:27013614 PMID:27031503 PMID:2719946 PMID:27604259 PMID:28075532 PMID:2825773 PMID:28492532 PMID:28707429 PMID:30297698 PMID:31064749 PMID:3242619 PMID:33977210 PMID:34110897 PMID:34355501 PMID:3567158 PMID:35945029 PMID:3771562 PMID:3801671 PMID:444582 PMID:6085205 PMID:625142 PMID:6305407 PMID:6405779 PMID:7740448 PMID:8585050 PMID:8696333 PMID:8839854 PMID:8896550 PMID:8916933 PMID:9106528 PMID:9292507 PMID:9462220 PMID:9493607 PMID:9531249 PMID:9569177 PMID:9694698 PMID:9869612 PMID:9890721
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