eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| portal vein thrombosis | ||||
| Disease ID | 897 |
|---|---|
| Disease | portal vein thrombosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:26) C2364133 | infection C1963135 | hepatic necrosis C1839611 | n syndrome C1512411 | hepatocellular carcinoma C0947622 | gallbladder stones C0863194 | resectable hepatocellular carcinoma C0856761 | budd chiari syndrome C0580178 | duodenal varices C0345907 | hepatic angiosarcoma C0281361 | pancreatic adenocarcinoma C0272414 | wandering spleen C0265029 | hepatic portal vein obstruction C0232493 | epigastric pain C0156192 | pylephlebitis C0155789 | bleeding esophageal varices C0042345 | varicose veins C0042345 | varices C0041313 | hepatic tuberculosis C0040038 | thromboembolism C0033626 | protein deficiency C0027022 | myeloproliferative disorders C0023891 | alcoholic liver cirrhosis C0021308 | infarction C0020541 | portal hypertension C0019080 | hemorrhage C0017181 | gastrointestinal hemorrhage |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:8) C0019204 | hepatocellular carcinoma | 23 C0020541 | portal hypertension | 18 C0863194 | resectable hepatocellular carcinoma | 3 C0009450 | infection | 2 C0042345 | varices | 2 C0021308 | infarction | 1 C0014867 | esophageal varices | 1 C0034192 | pylephlebitis | 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:15) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs3743251 | 24758241 | 3480 | IGF1R | umls:C0155773 | BeFree | We found A/A genotype at rs3743251 of IGF1R was negatively associated with HBV related HCC [odds ratio (OR) = 0.38, 95% confidence interval (CI) = 0.20-0.72, P = 0.037]; A/G genotype decreased the risk of portal vein thrombosis (OR = 0.38, 95%CI = 0.18-0.82, P = 0.01). | 0.000271442 | 2014 | IGF1R | 15 | 98960900 | G | A |
| rs386626619 | 19046316 | 3717 | JAK2 | umls:C0155773 | BeFree | The JAK2(V617F) tyrosine kinase mutation identifies clinically latent myeloproliferative disorders in patients presenting with hepatic or portal vein thrombosis. | 0.002171535 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 21893442 | 3717 | JAK2 | umls:C0155773 | BeFree | In this group, 4 out of 7 of the patients with PVT carried the JAK2 V617F mutation with or without overt MPD. | 0.002171535 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 17687555 | 3717 | JAK2 | umls:C0155773 | BeFree | JAK2(V617F) positive early stage myeloproliferative disease (essential thrombocythemia) as the cause of portal vein thrombosis in two middle-aged women: therapeutic implications in view of the literature. | 0.002171535 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 18396750 | 3717 | JAK2 | umls:C0155773 | BeFree | The search of the V617F mutation of the Janus Kinase 2 gene has to be performed in all cases of portal vein thrombosis of unknown origin. | 0.002171535 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 18328792 | 3717 | JAK2 | umls:C0155773 | BeFree | The JAK2 V617F point mutation was found in 3 patients with extrahepatic portal vein thrombosis who had multiple thrombotic events but did not fulfill the traditional diagnostic criteria for MPDs. | 0.002171535 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 25698270 | 3717 | JAK2 | umls:C0155773 | BeFree | Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patients with Budd-Chiari syndrome and/or portal vein thrombosis. | 0.002171535 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 22684349 | 3717 | JAK2 | umls:C0155773 | BeFree | The aim of this study was to describe the prevalence of main hereditary thrombophilias, Janus kinase 2 (JAK2) V617F mutation, antiphospholipid antibody syndrome (APS), and hyperhomocysteinemia in Brazilian children and adolescents diagnosed with portal vein thrombosis (PVT) without associated hepatic disease. | 0.002171535 | 2012 | NA | NA | NA | NA | NA |
| rs77375493 | 18396750 | 3717 | JAK2 | umls:C0155773 | BeFree | The search of the V617F mutation of the Janus Kinase 2 gene has to be performed in all cases of portal vein thrombosis of unknown origin. | 0.002171535 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22684349 | 3717 | JAK2 | umls:C0155773 | BeFree | The aim of this study was to describe the prevalence of main hereditary thrombophilias, Janus kinase 2 (JAK2) V617F mutation, antiphospholipid antibody syndrome (APS), and hyperhomocysteinemia in Brazilian children and adolescents diagnosed with portal vein thrombosis (PVT) without associated hepatic disease. | 0.002171535 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21893442 | 3717 | JAK2 | umls:C0155773 | BeFree | In this group, 4 out of 7 of the patients with PVT carried the JAK2 V617F mutation with or without overt MPD. | 0.002171535 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19046316 | 3717 | JAK2 | umls:C0155773 | BeFree | The JAK2(V617F) tyrosine kinase mutation identifies clinically latent myeloproliferative disorders in patients presenting with hepatic or portal vein thrombosis. | 0.002171535 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18328792 | 3717 | JAK2 | umls:C0155773 | BeFree | The JAK2 V617F point mutation was found in 3 patients with extrahepatic portal vein thrombosis who had multiple thrombotic events but did not fulfill the traditional diagnostic criteria for MPDs. | 0.002171535 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17687555 | 3717 | JAK2 | umls:C0155773 | BeFree | JAK2(V617F) positive early stage myeloproliferative disease (essential thrombocythemia) as the cause of portal vein thrombosis in two middle-aged women: therapeutic implications in view of the literature. | 0.002171535 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25698270 | 3717 | JAK2 | umls:C0155773 | BeFree | Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patients with Budd-Chiari syndrome and/or portal vein thrombosis. | 0.002171535 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
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 | 897 |
|---|---|
| Disease | portal vein thrombosis |
| Case | (Waiting for update.) |