eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| thrombophilia | ||||
| Disease ID | 587 |
|---|---|
| Disease | thrombophilia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:12) C1962958 | hematoma C1260903 | dysfibrinogenemia C0598608 | hyperhomocysteinaemia C0584960 | factor v leiden mutation C0524702 | pulmonary thromboembolism C0517555 | venous thrombosis C0155773 | portal vein thrombosis C0042373 | vascular diseases C0040053 | thrombosis C0040038 | thromboembolism C0033117 | priapism C0005779 | coagulation defect |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:7) C0040053 | thrombosis | 33 C0040038 | thromboembolism | 10 C0042487 | venous thrombosis | 3 C0038454 | stroke | 2 C0524702 | pulmonary thromboembolism | 1 C0398623 | thrombophilia | 1 C0584960 | factor v leiden mutation | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:38) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1019731 | 20734064 | 3479 | IGF1 | umls:C0398623 | GAD | [A large-scale candidate gene association study of age at menarche and age at natural menopause.] | 0.002367032 | 2010 | IGF1 | 12 | 102470647 | C | A |
| rs121918027 | 23772166 | 5340 | PLG | umls:C0398623 | BeFree | After returning to Korea he was tested for thrombophilia which revealed decreased activity of plasminogen and subsequent analysis of PLG gene showed heterozygous Ala620Thr mutation. | 0.003800186 | 2013 | PLG | 6 | 160738593 | G | A |
| rs1590 | 20734064 | 7040 | TGFB1 | umls:C0398623 | GAD | [A large-scale candidate gene association study of age at menarche and age at natural menopause.] | 0.002367032 | 2010 | TGFBR1 | 9 | 99153883 | T | G |
| rs1799963 | NA | 2147 | F2 | umls:C0398623 | CLINVAR | NA | 0.427144187 | NA | F2 | 11 | 46739505 | G | A |
| rs2227589 | 19229049 | 462 | SERPINC1 | umls:C0398623 | GAD | [Functional consequences of the prothrombotic SERPINC1 rs2227589 polymorphism on antithrombin levels.] | 0.007719925 | 2009 | SERPINC1 | 1 | 173917078 | C | T |
| rs2697679 | 20734064 | 4683 | NBN | umls:C0398623 | GAD | [A large-scale candidate gene association study of age at menarche and age at natural menopause.] | 0.002367032 | 2010 | NBN | 8 | 89937652 | A | C |
| rs271924 | 20734064 | 5122 | PCSK1 | umls:C0398623 | GAD | [A large-scale candidate gene association study of age at menarche and age at natural menopause.] | 0.002367032 | 2010 | PCSK1;LOC101929710 | 5 | 96401720 | A | T |
| rs3730043 | 17574520 | 1636 | ACE | umls:C0398623 | BeFree | Genetic polymorphisms associated with thrombophilia such as factor V Leiden, prothrombin G20210A, MTHFR C677T, ACE and PIA1/A2 may be the cause of the hypercoagulability that results in CVT. | 0.012920927 | 2008 | ACE | 17 | 63491216 | C | T |
| rs3730043 | 17574520 | 2153 | F5 | umls:C0398623 | BeFree | Genetic polymorphisms associated with thrombophilia such as factor V Leiden, prothrombin G20210A, MTHFR C677T, ACE and PIA1/A2 may be the cause of the hypercoagulability that results in CVT. | 0.12019326 | 2008 | ACE | 17 | 63491216 | C | T |
| rs386626619 | 17263783 | 3717 | JAK2 | umls:C0398623 | BeFree | Among the patients without overt CMD or thrombophilia and with unprovoked thrombosis, 29.4% (95% CI 16.8-46.1) with splanchnic venous thrombosis and 42.8% (95% CI 24.4-63.4) with PVT had the JAK2 V617F mutation. | 0.014006695 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 19336736 | 3717 | JAK2 | umls:C0398623 | BeFree | Influence of the JAK2 V617F mutation and inherited thrombophilia on the thrombotic risk among patients with essential thrombocythemia. | 0.014006695 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 18796251 | 3717 | JAK2 | umls:C0398623 | BeFree | Accordingly, it seems that the investigation for the V617F mutation of the JAK2 gene is not mandatory in all Mexican mestizo patients with unexplained thrombophilia and that this genetic study should be reserved for special cases, such as patients with thrombosis in uncommon sites or patients with cell counts suggesting the presence of an underlying MPD. | 0.014006695 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 18768782 | 3717 | JAK2 | umls:C0398623 | BeFree | We used the thrombin generation assay to evaluate the hypercoagulable state according to JAK2(V617F) mutational status in essential thrombocythemia (ET) and polycythemia vera (PV) patients. | 0.014006695 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 21232003 | 3717 | JAK2 | umls:C0398623 | BeFree | Impact of common thrombophilias and JAK2 V617F on pregnancy outcomes in unselected Italian women. | 0.014006695 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 23941968 | 3717 | JAK2 | umls:C0398623 | BeFree | A work-up for JAK2 V617F mutation and thrombophilia was done. | 0.014006695 | 2014 | NA | NA | NA | NA | NA |
| rs387907201 | NA | 2147 | F2 | umls:C0398623 | CLINVAR | NA | 0.427144187 | NA | F2 | 11 | 46739326 | G | T |
| rs397507444 | 18796459 | 5054 | SERPINE1 | umls:C0398623 | BeFree | The authors used polymerase chain reaction (PCR) measures for thrombophilia (FVL, PTG, C677T-A1298C methylenetetrahydrofolate reductase [MTHFR], platelet glycoprotein PLA1A2) and hypofibrinolysis (plasminogen activator inhibitor-1 4G4G). | 0.02309376 | 2009 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 18796459 | 4524 | MTHFR | umls:C0398623 | BeFree | The authors used polymerase chain reaction (PCR) measures for thrombophilia (FVL, PTG, C677T-A1298C methylenetetrahydrofolate reductase [MTHFR], platelet glycoprotein PLA1A2) and hypofibrinolysis (plasminogen activator inhibitor-1 4G4G). | 0.216296444 | 2009 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 22173239 | 4524 | MTHFR | umls:C0398623 | BeFree | Placenta slides of 65 IUFDs with known maternal thrombophilia test results (compound MTHFR C677T and A1298C heterozygosity, n = 10; MTHFR 677TT homozygosity, n = 3; protein S deficiency, n = 0; factor V Leiden mutation, n = 2; prothrombin gene mutation G20210A, n = 1; lupus anticoagulant, n = 2; antiphospholipid syndrome, n = 1; MTHFR C677T heterozygosity, n = 5; MTHFR A1298C heterozygosity, n = 4; and MTHFR 1298CC homozygosity, n = 2) and of 30 livebirths with positive maternal thrombophilia test results (n = 5, 2, 0, 9, 2, 0, 2, 7, 2 and 1, respectively, for those thrombophilias) were microscopically examined for septation, fetal vessel thrombosis, intimal fibrin cushions, avascular villi, haemorrhagic endovasculitis and fibromuscular sclerosis. | 0.216296444 | 2012 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 16015408 | 4524 | MTHFR | umls:C0398623 | BeFree | The case with factor VIII of 160% had two other thrombophilias (compound MTHFR C677T-A1298C heterozygosity, resistance to activated protein C), and hypofibrinolytic high Lp(a). | 0.216296444 | 2005 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 16015408 | 1351 | COX8A | umls:C0398623 | BeFree | The case with factor VIII of 160% had two other thrombophilias (compound MTHFR C677T-A1298C heterozygosity, resistance to activated protein C), and hypofibrinolytic high Lp(a). | 0.002714419 | 2005 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 23157044 | 4524 | MTHFR | umls:C0398623 | BeFree | The aim of this study was to verify whether FV Leiden, PT G20210A, MTHFR C667T or MTHFR A1298C mutations influence the risk of recurrent fetal loss in a sample of Turkish women who had experienced recurrent fetal loss and to evaluate whether the aforementioned thrombophilias and recurrent fetal loss may affect the birth weight of subsequent pregnancies. | 0.216296444 | 2012 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 18160591 | 4524 | MTHFR | umls:C0398623 | BeFree | Severe arterial thrombophilia associated with a homozygous MTHFR gene mutation (A1298C) in a young man with Klinefelter syndrome. | 0.216296444 | 2008 | MTHFR | 1 | 11794407 | T | G |
| rs41322052 | 18829920 | 4846 | NOS3 | umls:C0398623 | BeFree | Limited by the small numbers of patients with multifocal osteonecrosis, this exploratory study suggested that thrombophilia was associated with both idiopathic multifocal osteonecrosis and secondary multifocal osteonecrosis, as was the eNOS T-786C polymorphism. | 0.007729856 | 2008 | NOS3 | 7 | 150993018 | C | T |
| rs4135280 | 20734064 | 5468 | PPARG | umls:C0398623 | GAD | [A large-scale candidate gene association study of age at menarche and age at natural menopause.] | 0.002367032 | 2010 | PPARG | 3 | 12407495 | T | C |
| rs4939833 | 20734064 | 4092 | SMAD7 | umls:C0398623 | GAD | [A large-scale candidate gene association study of age at menarche and age at natural menopause.] | 0.002367032 | 2010 | SMAD7 | 18 | 48941590 | T | C |
| rs494958 | 20734064 | 6715 | SRD5A1 | umls:C0398623 | GAD | [A large-scale candidate gene association study of age at menarche and age at natural menopause.] | 0.002367032 | 2010 | SRD5A1 | 5 | 6639066 | A | T |
| rs6025 | 23330508 | 2153 | F5 | umls:C0398623 | BeFree | Factor V Leiden (R507Q) and factor II (prothrombin) mutation (G20210A) are the two most common inherited hypercoagulability disorders among populations of European origin. | 0.12019326 | 2012 | F5 | 1 | 169549811 | C | T |
| rs6279 | 20734064 | 255239 | ANKK1 | umls:C0398623 | GAD | [A large-scale candidate gene association study of age at menarche and age at natural menopause.] | 0.002367032 | 2010 | DRD2 | 11 | 113410351 | G | C |
| rs7586601 | 20734064 | 8890 | EIF2B4 | umls:C0398623 | GAD | [A large-scale candidate gene association study of age at menarche and age at natural menopause.] | 0.002367032 | 2010 | LOC105374363 | 2 | 27361799 | A | G |
| rs77375493 | 19336736 | 3717 | JAK2 | umls:C0398623 | BeFree | Influence of the JAK2 V617F mutation and inherited thrombophilia on the thrombotic risk among patients with essential thrombocythemia. | 0.014006695 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18796251 | 3717 | JAK2 | umls:C0398623 | BeFree | Accordingly, it seems that the investigation for the V617F mutation of the JAK2 gene is not mandatory in all Mexican mestizo patients with unexplained thrombophilia and that this genetic study should be reserved for special cases, such as patients with thrombosis in uncommon sites or patients with cell counts suggesting the presence of an underlying MPD. | 0.014006695 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17263783 | 3717 | JAK2 | umls:C0398623 | BeFree | Among the patients without overt CMD or thrombophilia and with unprovoked thrombosis, 29.4% (95% CI 16.8-46.1) with splanchnic venous thrombosis and 42.8% (95% CI 24.4-63.4) with PVT had the JAK2 V617F mutation. | 0.014006695 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18768782 | 3717 | JAK2 | umls:C0398623 | BeFree | We used the thrombin generation assay to evaluate the hypercoagulable state according to JAK2(V617F) mutational status in essential thrombocythemia (ET) and polycythemia vera (PV) patients. | 0.014006695 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21232003 | 3717 | JAK2 | umls:C0398623 | BeFree | Impact of common thrombophilias and JAK2 V617F on pregnancy outcomes in unselected Italian women. | 0.014006695 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23941968 | 3717 | JAK2 | umls:C0398623 | BeFree | A work-up for JAK2 V617F mutation and thrombophilia was done. | 0.014006695 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs909253 | 20734064 | 7124 | TNF | umls:C0398623 | GAD | [A large-scale candidate gene association study of age at menarche and age at natural menopause.] | 0.005005506 | 2010 | LTA;LOC100287329 | 6 | 31572536 | A | G |
| rs9457827 | 20734064 | 3482 | IGF2R | umls:C0398623 | GAD | [A large-scale candidate gene association study of age at menarche and age at natural menopause.] | 0.002367032 | 2010 | IGF2R | 6 | 160082624 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:8) | |||||||||||||||||||||||||||||
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| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 3 | 186445052 | rs2304456 | T | G | rs2304456 | 22701019 | 0.000486 | NA | NA | NA | 339 European ancestry individuals from 21 families | European(339) | ALL(339) | EUR(339) | ALL(339) | Plasma factor XI level and activated partial thromboplastin time | HPOID:0001907 | HPOID:0004936 | Thromboembolism | Venous thrombosis | DOID:2452 | thrombophilia | NA | NA | NA | NA | Thrombophilia | NA | Research Support, Non-U.S. Gov't |
| 3 | 186451236 | rs4686799 | T | C | rs4686799 | 22701019 | 0.000000167 | NA | NA | NA | 339 European ancestry individuals from 21 families | European(339) | ALL(339) | EUR(339) | ALL(339) | Plasma factor XI level and activated partial thromboplastin time | HPOID:0001907 | HPOID:0004936 | Thromboembolism | Venous thrombosis | DOID:2452 | thrombophilia | NA | NA | NA | NA | Thrombophilia | NA | Research Support, Non-U.S. Gov't |
| 3 | 186454180 | rs5030062 | A | C | rs5030062 | 22701019 | 2.19E-09 | NA | NA | NA | 339 European ancestry individuals from 21 families | European(339) | ALL(339) | EUR(339) | ALL(339) | Plasma factor XI level and activated partial thromboplastin time | HPOID:0001907 | HPOID:0004936 | Thromboembolism | Venous thrombosis | DOID:2452 | thrombophilia | NA | NA | NA | NA | Thrombophilia | NA | Research Support, Non-U.S. Gov't |
| 3 | 186455546 | rs5030072 | T | C | rs5030072 | 22701019 | 0.000188 | NA | NA | NA | 339 European ancestry individuals from 21 families | European(339) | ALL(339) | EUR(339) | ALL(339) | Plasma factor XI level and activated partial thromboplastin time | HPOID:0001907 | HPOID:0004936 | Thromboembolism | Venous thrombosis | DOID:2452 | thrombophilia | NA | NA | NA | NA | Thrombophilia | NA | Research Support, Non-U.S. Gov't |
| 3 | 186459227 | rs698078 | A | G | rs698078 | 22701019 | 0.000155 | NA | NA | NA | 339 European ancestry individuals from 21 families | European(339) | ALL(339) | EUR(339) | ALL(339) | Plasma factor XI level and activated partial thromboplastin time | HPOID:0001907 | HPOID:0004936 | Thromboembolism | Venous thrombosis | DOID:2452 | thrombophilia | NA | NA | NA | NA | Thrombophilia | NA | Research Support, Non-U.S. Gov't |
| 3 | 186459927 | rs710446 | T | C | rs710446 | 22701019 | 7.98E-10 | NA | NA | NA | 339 European ancestry individuals from 21 families | European(339) | ALL(339) | EUR(339) | ALL(339) | Plasma factor XI level and activated partial thromboplastin time | HPOID:0001907 | HPOID:0004936 | Thromboembolism | Venous thrombosis | DOID:2452 | thrombophilia | NA | NA | NA | NA | Thrombophilia | NA | Research Support, Non-U.S. Gov't |
| 4 | 187188094 | rs4253399 | T | G | rs4253399 | 22701019 | 6.22E-08 | NA | NA | NA | 339 European ancestry individuals from 21 families | European(339) | ALL(339) | EUR(339) | ALL(339) | Plasma factor XI level and activated partial thromboplastin time | HPOID:0001907 | HPOID:0004936 | Thromboembolism | Venous thrombosis | DOID:2452 | thrombophilia | NA | NA | NA | NA | Thrombophilia | NA | Research Support, Non-U.S. Gov't |
| 4 | 187191787 | rs4241824 | G | A | rs4241824 | 22701019 | 1.16E-08 | NA | NA | NA | 339 European ancestry individuals from 21 families | European(339) | ALL(339) | EUR(339) | ALL(339) | Plasma factor XI level and activated partial thromboplastin time | HPOID:0001907 | HPOID:0004936 | Thromboembolism | Venous thrombosis | DOID:2452 | thrombophilia | NA | NA | NA | NA | Thrombophilia | NA | Research Support, Non-U.S. Gov't |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 587 |
|---|---|
| Disease | thrombophilia |
| Case | (Waiting for update.) |