PedAM
Pediatric Disease Annotations & Medicines
| budd-chiari syndrome | ||||
| Disease ID | 33 |
|---|---|
| Disease | budd-chiari syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:33) C1963135 | hepatic necrosis C1861171 | activated protein c resistance C1512411 | hepatocellular carcinoma C1418558 | paroxysmal nocturnal hemoglobinuria C1402315 | vascular lesions C1285291 | fetal ascites C0600452 | hepatopulmonary syndrome C0584960 | factor v leiden mutation C0344688 | patent ductus venosus C0340757 | inferior vena cava stenosis C0267412 | mesenteric thrombosis C0266807 | acute gastrointestinal bleeding C0265072 | inferior vena cava occlusion C0265072 | inferior vena cava obstruction C0240225 | hepatic mass C0240066 | iron deficiency C0162557 | fulminant hepatic failure C0155773 | portal vein thrombosis C0040053 | thrombosis C0038833 | superior vena cava obstruction C0032463 | polycythaemia vera C0027022 | myeloproliferative disorder C0027022 | myeloproliferative disease C0026764 | multiple myeloma C0025202 | malignant melanoma C0023903 | hepatoma C0023890 | liver cirrhosis C0022665 | tumor of the kidney C0020639 | hypoproteinemia C0020541 | portal hypertension C0020532 | hypersplenism C0009324 | ulcerative colitis C0007134 | renal cell carcinoma |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:11) C0019204 | hepatocellular carcinoma | 10 C0040053 | thrombosis | 6 C0027022 | myeloproliferative disorder | 2 C0009324 | ulcerative colitis | 2 C0024790 | paroxysmal nocturnal hemoglobinuria | 2 C0265072 | inferior vena cava obstruction | 2 C0038833 | superior vena cava obstruction | 1 C0020541 | portal hypertension | 1 C0600452 | hepatopulmonary syndrome | 1 C0007134 | renal cell carcinoma | 1 C0023890 | liver cirrhosis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:16) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs386626619 | 25698270 | 3717 | JAK2 | umls:C0856761 | BeFree | Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patients with Budd-Chiari syndrome and/or portal vein thrombosis. | 0.255721222 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 16762626 | 3717 | JAK2 | umls:C0019154 | BeFree | Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. | 0.003528744 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 25698270 | 3717 | JAK2 | umls:C0019154 | BeFree | Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patients with Budd-Chiari syndrome and/or portal vein thrombosis. | 0.003528744 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 19308656 | 3717 | JAK2 | umls:C0019154 | BeFree | Low burden of a JAK2-V617F mutated clone in monoclonal haematopoiesis in a Japanese woman with Budd-Chiari syndrome. | 0.003528744 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 19308656 | 3717 | JAK2 | umls:C0856761 | BeFree | Low burden of a JAK2-V617F mutated clone in monoclonal haematopoiesis in a Japanese woman with Budd-Chiari syndrome. | 0.255721222 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 16762626 | 3717 | JAK2 | umls:C0856761 | BeFree | Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. | 0.255721222 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 18600100 | 3717 | JAK2 | umls:C0019154 | BeFree | Occurrence of the JAK2 V617F mutation in the Budd-Chiari syndrome. | 0.003528744 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 18600100 | 3717 | JAK2 | umls:C0856761 | BeFree | Occurrence of the JAK2 V617F mutation in the Budd-Chiari syndrome. | 0.255721222 | 2008 | NA | NA | NA | NA | NA |
| rs77375493 | 25698270 | 3717 | JAK2 | umls:C0019154 | BeFree | Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patients with Budd-Chiari syndrome and/or portal vein thrombosis. | 0.003528744 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16762626 | 3717 | JAK2 | umls:C0856761 | BeFree | Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. | 0.255721222 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18600100 | 3717 | JAK2 | umls:C0856761 | BeFree | Occurrence of the JAK2 V617F mutation in the Budd-Chiari syndrome. | 0.255721222 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25698270 | 3717 | JAK2 | umls:C0856761 | BeFree | Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patients with Budd-Chiari syndrome and/or portal vein thrombosis. | 0.255721222 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19308656 | 3717 | JAK2 | umls:C0019154 | BeFree | Low burden of a JAK2-V617F mutated clone in monoclonal haematopoiesis in a Japanese woman with Budd-Chiari syndrome. | 0.003528744 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16762626 | 3717 | JAK2 | umls:C0019154 | BeFree | Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. | 0.003528744 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19308656 | 3717 | JAK2 | umls:C0856761 | BeFree | Low burden of a JAK2-V617F mutated clone in monoclonal haematopoiesis in a Japanese woman with Budd-Chiari syndrome. | 0.255721222 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18600100 | 3717 | JAK2 | umls:C0019154 | BeFree | Occurrence of the JAK2 V617F mutation in the Budd-Chiari syndrome. | 0.003528744 | 2008 | 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.) |
Chemical(Total Drugs:2) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0019154 | amphetamine | D000661 | 300-62-9 | budd-chiari syndrome | MESH:D006502 | marker/mechanism | 8583154 | ||
| C0019154 | vinblastine | D014747 | 865-21-4 | budd-chiari syndrome | MESH:D006502 | marker/mechanism | 509400 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |