Property Summary

NCBI Gene PubMed Count 1,214
Grant Count 30
R01 Count 19
Funding $3,467,710.95
PubMed Score 504.09
PubTator Score 3133.22

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (53)

Disease Z-score Confidence
Factor V Deficiency 7 5.993 3.0
Thrombophilia 36 5.688 2.8
Blood protein disease 10 4.335 2.2
Pulmonary Embolism 45 4.036 2.0
Placental abruption 15 3.601 1.8
Cerebrovascular disease 231 3.544 1.8
Antithrombin III deficiency 9 3.259 1.6
Protein C deficiency 19 3.158 1.6
Portal vein thrombosis 9 3.13 1.6
Myocardial Infarction 126 3.1 1.5
Abortion, Habitual 2
Barrett's esophagus 183
Bleeding Disorder, East Texas Type 1
Blood Coagulation Disorders 8
Brain Ischemia 87
Budd-Chiari Syndrome 2
Carcinoma 2,147 1.0
Cardiovascular system disease 194 2.0
Cerebral Infarction 9
Cerebrovascular accident 44
Liver Cirrhosis 101
Pick disease 1,893
Retinal Vein Occlusion 6
Rheumatoid Arthritis 1,160
Sagittal Sinus Thrombosis 3
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C... 1 
Thromboembolism 12
Thrombophilia, hereditary 1
Thrombophlebitis 16 2.0
Thrombosis 42
Vascular disease 281 2.0
Venous Thromboembolism 34
Venous Thrombosis 21
astrocytic glioma 2,241
chronic rhinosinusitis 512
cystic fibrosis and chronic rhinosinusit... 213 
esophageal adenocarcinoma 737
intraductal papillary-mucinous adenoma (... 2,956 
intraductal papillary-mucinous carcinoma... 2,988 
intraductal papillary-mucinous neoplasm ... 3,289 
lung cancer 4,466
lung carcinoma 2,844
mucosa-associated lymphoid tissue lympho... 480 
oligodendroglioma 2,849
osteosarcoma 7,933
ovarian cancer 8,484
pancreatic cancer 2,300
pancreatic carcinoma 567
pancreatic ductal adenocarcinoma liver m... 1,795 
pituitary cancer 1,972
posterior fossa group B ependymoma 1,530
tuberculosis 1,557
ulcerative colitis 2,087

Expression

Gene RIF (1332)

PMID Text
26768578 In the current study Factor V Leiden, prothrombin G20210A, and thrombospondin-1 polymorphisms showed no association with severity of hepatic fibrosis.
26717220 Our study does not support the notion that factor V HR2 haplotype might be a risk factor for thrombosis despite its high prevalence among patients with PE.
26522268 Factor V (F5) c.1691G>A (Leiden) was present in 0.5% of 400 ischemic stroke patients in Sri Lanka. F5 mutation was present in a statistically significant number of patients with venous thrombosis (P = .005) compared to those with arterial thrombosis.
26270511 Case Report: acquired FV inhibitor that developed in a patient after exposure to human thrombin used as a hemostatic agent during an otorhinolaryngology surgical procedure.
26261171 the diagnosis of an 'unaffected' foetus was offered. The child was subsequently followed up after delivery and was found to be normal for factor V levels with a normal genotype
26261166 ). No significant difference was observed in the presence of FV 1691G/A and FII 20210G/A between any of the patients groups and the control group.
26247037 genetic association studies in population in Czech Republic: Data suggest point mutation in FV (Leiden) is associated with outcome in patients with hereditary thrombophilia/diabetes/limb ischemia following percutaneous transluminal angioplasty.
26245493 FVL has a modifying effect on PAI-1 polymorphism in relation to risk of VTE recurrence.
26238013 its mutation is associated with primary Budd-Chiari syndrome.
26174681 C2491T FV mutation associated with ischaemic stroke risk in Morocco, is reported.
More...

AA Sequence

MFPGCPRLWVLVVLGTSWVGWGSQGTEAAQLRQFYVAAQGISWSYRPEPTNSSLNLSVTSFKKIVYREYE      1 - 70
PYFKKEKPQSTISGLLGPTLYAEVGDIIKVHFKNKADKPLSIHPQGIRYSKLSEGASYLDHTFPAEKMDD     71 - 140
AVAPGREYTYEWSISEDSGPTHDDPPCLTHIYYSHENLIEDFNSGLIGPLLICKKGTLTEGGTQKTFDKQ    141 - 210
IVLLFAVFDESKSWSQSSSLMYTVNGYVNGTMPDITVCAHDHISWHLLGMSSGPELFSIHFNGQVLEQNH    211 - 280
HKVSAITLVSATSTTANMTVGPEGKWIISSLTPKHLQAGMQAYIDIKNCPKKTRNLKKITREQRRHMKRW    281 - 350
EYFIAAEEVIWDYAPVIPANMDKKYRSQHLDNFSNQIGKHYKKVMYTQYEDESFTKHTVNPNMKEDGILG    351 - 420
PIIRAQVRDTLKIVFKNMASRPYSIYPHGVTFSPYEDEVNSSFTSGRNNTMIRAVQPGETYTYKWNILEF    421 - 490
DEPTENDAQCLTRPYYSDVDIMRDIASGLIGLLLICKSRSLDRRGIQRAADIEQQAVFAVFDENKSWYLE    491 - 560
DNINKFCENPDEVKRDDPKFYESNIMSTINGYVPESITTLGFCFDDTVQWHFCSVGTQNEILTIHFTGHS    561 - 630
FIYGKRHEDTLTLFPMRGESVTVTMDNVGTWMLTSMNSSPRSKKLRLKFRDVKCIPDDDEDSYEIFEPPE    631 - 700
STVMATRKMHDRLEPEDEESDADYDYQNRLAAALGIRSFRNSSLNQEEEEFNLTALALENGTEFVSSNTD    701 - 770
IIVGSNYSSPSNISKFTVNNLAEPQKAPSHQQATTAGSPLRHLIGKNSVLNSSTAEHSSPYSEDPIEDPL    771 - 840
QPDVTGIRLLSLGAGEFKSQEHAKHKGPKVERDQAAKHRFSWMKLLAHKVGRHLSQDTGSPSGMRPWEDL    841 - 910
PSQDTGSPSRMRPWKDPPSDLLLLKQSNSSKILVGRWHLASEKGSYEIIQDTDEDTAVNNWLISPQNASR    911 - 980
AWGESTPLANKPGKQSGHPKFPRVRHKSLQVRQDGGKSRLKKSQFLIKTRKKKKEKHTHHAPLSPRTFHP    981 - 1050
LRSEAYNTFSERRLKHSLVLHKSNETSLPTDLNQTLPSMDFGWIASLPDHNQNSSNDTGQASCPPGLYQT   1051 - 1120
VPPEEHYQTFPIQDPDQMHSTSDPSHRSSSPELSEMLEYDRSHKSFPTDISQMSPSSEHEVWQTVISPDL   1121 - 1190
SQVTLSPELSQTNLSPDLSHTTLSPELIQRNLSPALGQMPISPDLSHTTLSPDLSHTTLSLDLSQTNLSP   1191 - 1260
ELSQTNLSPALGQMPLSPDLSHTTLSLDFSQTNLSPELSHMTLSPELSQTNLSPALGQMPISPDLSHTTL   1261 - 1330
SLDFSQTNLSPELSQTNLSPALGQMPLSPDPSHTTLSLDLSQTNLSPELSQTNLSPDLSEMPLFADLSQI   1331 - 1400
PLTPDLDQMTLSPDLGETDLSPNFGQMSLSPDLSQVTLSPDISDTTLLPDLSQISPPPDLDQIFYPSESS   1401 - 1470
QSLLLQEFNESFPYPDLGQMPSPSSPTLNDTFLSKEFNPLVIVGLSKDGTDYIEIIPKEEVQSSEDDYAE   1471 - 1540
IDYVPYDDPYKTDVRTNINSSRDPDNIAAWYLRSNNGNRRNYYIAAEEISWDYSEFVQRETDIEDSDDIP   1541 - 1610
EDTTYKKVVFRKYLDSTFTKRDPRGEYEEHLGILGPIIRAEVDDVIQVRFKNLASRPYSLHAHGLSYEKS   1611 - 1680
SEGKTYEDDSPEWFKEDNAVQPNSSYTYVWHATERSGPESPGSACRAWAYYSAVNPEKDIHSGLIGPLLI   1681 - 1750
CQKGILHKDSNMPMDMREFVLLFMTFDEKKSWYYEKKSRSSWRLTSSEMKKSHEFHAINGMIYSLPGLKM   1751 - 1820
YEQEWVRLHLLNIGGSQDIHVVHFHGQTLLENGNKQHQLGVWPLLPGSFKTLEMKASKPGWWLLNTEVGE   1821 - 1890
NQRAGMQTPFLIMDRDCRMPMGLSTGIISDSQIKASEFLGYWEPRLARLNNGGSYNAWSVEKLAAEFASK   1891 - 1960
PWIQVDMQKEVIITGIQTQGAKHYLKSCYTTEFYVAYSSNQINWQIFKGNSTRNVMYFNGNSDASTIKEN   1961 - 2030
QFDPPIVARYIRISPTRAYNRPTLRLELQGCEVNGCSTPLGMENGKIENKQITASSFKKSWWGDYWEPFR   2031 - 2100
ARLNAQGRVNAWQAKANNNKQWLEIDLLKIKKITAIITQGCKSLSSEMYVKSYTIHYSEQGVEWKPYRLK   2101 - 2170
SSMVDKIFEGNTNTKGHVKNFFNPPIISRFIRVIPKTWNQSIALRLELFGCDIY                   2171 - 2224
//

Text Mined References (1228)

PMID Year Title
26768578 2016 Association of thrombogenic genes polymorphisms with hepatocellular carcinoma in HCV Egyptian patients.
26717220 2015 Factor-V HR2 haplotype and thromboembolic disease.
26522268 2016 A Study on Hereditary Thrombophilia and Stroke in a Cohort from Sri Lanka.
26270511 2015 Acquired factor V inhibitor after exposure to topical human thrombin related to an otorhinolaryngological procedure.
26261171 2015 High heterozygosity frequency of three exonic SNPs of factor V gene (F5): implications for genetic diagnosis.
26261166 2015 A preliminary study of inherited thrombophilic risk factors in different clinical manifestations of venous thromboembolism in central Iran.
26247037 2015 Impact of Inherited Prothrombotic Disorders on the Long-Term Clinical Outcome of Percutaneous Transluminal Angioplasty in Patients with Diabetes.
26245493 2015 Plasminogen activator inhibitor-1 4G/5G polymorphism, factor V Leiden, prothrombin mutations and the risk of VTE recurrence.
26238013 2016 Association of factor V Leiden, Janus kinase 2, prothrombin, and MTHFR mutations with primary Budd-Chiari syndrome in Egyptian patients.
26174681 2015 First study of C2491T FV mutation with ischaemic stroke risk in Morocco.
More...