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GENE - TERM ANNOTATION REPORT

RGD ID: 1589758
Species: Rattus norvegicus
RGD Object: Gene
Symbol: F5
Name: coagulation factor V
Acc ID: DOID:2216
Term: factor V deficiency
Definition: A deficiency of blood coagulation factor V (known as proaccelerin or accelerator globulin or labile factor) leading to a rare hemorrhagic tendency known as Owren's disease or parahemophilia. It varies greatly in severity. Factor V deficiency is an autosomal recessive trait. (Dorland, 27th ed)
Definition Source(s): MESH:D005166
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)
F5 ISOF5 (Homo sapiens)11564334RGDDNA:nonsense,misense mutations:cds:c.3571C>T, c.1691G>A(human) 
F5susceptibilityISOF5 (Homo sapiens)7240710OMIM  
F5 ISOF5 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
F5 ISOF5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Factor V deficiency | ClinVar Annotator: match by term: LABILE FACTOR DEFICIENCY | ClinVar Annotator: match by term: PARAHEMOPHILIAPMID:10328130 PMID:10348711 PMID:10477778 PMID:10494770 PMID:10507841 PMID:10666427 PMID:10942390 PMID:11018168 PMID:11110695 PMID:11418372 PMID:11435304 PMID:11564077 PMID:11686338 PMID:11781258 PMID:11950065 PMID:12069454 PMID:12070000 PMID:12393490 PMID:12421138 PMID:12816860 PMID:14511309 PMID:14996674 PMID:15208046 PMID:15534175 PMID:15638861 PMID:15735820 PMID:15946211 PMID:16199547 PMID:16246256 PMID:16476093 PMID:16493002 PMID:16769590 PMID:16931580 PMID:17145618 PMID:18788609 PMID:19052695 PMID:19486170 PMID:19652888 PMID:19900106 PMID:20051284 PMID:20510101 PMID:20735394 PMID:21116184 PMID:21774968 PMID:22044617 PMID:22704462 PMID:22992668 PMID:23382263 PMID:23677252 PMID:23900608 PMID:24033266 PMID:24517203 PMID:24787990 PMID:24893683 PMID:25741868 PMID:25977387 PMID:26251307 PMID:26709270 PMID:26990548 PMID:27090446 PMID:27797270 PMID:28492532 PMID:28750087 PMID:29082580 PMID:30924984 PMID:31064749 PMID:31268865 PMID:31399523 PMID:32000417 PMID:32219828 PMID:32833806 PMID:32851759 PMID:33769317 PMID:33858044 PMID:33979974 PMID:34280927 PMID:34355501 PMID:34575869 PMID:35946468 PMID:37150682 PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 PMID:7968118 PMID:8049422 PMID:8164730 PMID:8164741 PMID:8566967 PMID:8616100 PMID:8822583 PMID:9245936 PMID:9339109 PMID:9372726 PMID:9415695 PMID:9454741 PMID:9459326 PMID:9488630 PMID:9518910 PMID:9694743 PMID:9734642 PMID:9746807
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