eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| budd-chiari syndrome | ||||
| Disease ID | 106 |
|---|---|
| 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:12) C0019204 | hepatocellular carcinoma | 10 C0040053 | thrombosis | 6 C0009324 | ulcerative colitis | 2 C0856761 | budd-chiari syndrome | 2 C0265072 | inferior vena cava obstruction | 2 C0024790 | paroxysmal nocturnal hemoglobinuria | 2 C0027022 | myeloproliferative disorder | 1 C0023890 | liver cirrhosis | 1 C0007134 | renal cell carcinoma | 1 C0020541 | portal hypertension | 1 C0600452 | hepatopulmonary syndrome | 1 C0038833 | superior vena cava obstruction | 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:16) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0002910 | Elevated hepatic transaminases | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0006554 | Acute hepatic failure | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0001409 | Portal hypertension | MP:0000231 | hypertension | sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states |
| HP:0005214 | Intestinal obstruction | MP:0003587 | ureter obstruction | a partial or total blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder; may be congenital, acquired, unilateral, bilateral, acute or chronic |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:18) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001394 | Cirrhosis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0005214 | Intestinal obstruction | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002910 | Elevated hepatic transaminases | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0006554 | Acute hepatic failure | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002040 | Esophageal varix | MP:0014074 | increased brain glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in brain |
| HP:0002586 | Peritonitis | MP:0011085 | postnatal lethality, complete penetrance | premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age) |
| HP:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001409 | Portal hypertension | MP:0014074 | increased brain glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in brain |
| HP:0001082 | Cholecystitis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0005244 | Gastrointestinal infarctions | MP:0011098 | embryonic lethality during organogenesis, complete penetrance | death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001541 | Ascites | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| Disease ID | 106 |
|---|---|
| Disease | budd-chiari syndrome |
| Case | (Waiting for update.) |