eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| polycythemia | ||||
| Disease ID | 678 |
|---|---|
| Disease | polycythemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:44) C2697417 | pheochromocytoma C2697327 | wilms tumor C1512411 | hepatocellular carcinoma C1393529 | vascular complications C1378703 | renal carcinoma C1332900 | hemangioblastoma of the cerebellum C1096458 | vascular occlusion C0856761 | budd-chiari syndrome C0836924 | thrombocythemia C0796095 | c syndrome C0751955 | brain infarction C0740457 | renal cancers C0518960 | myxoma of the right atrium C0455683 | congenital heart disease C0442874 | neuropathy C0340305 | inferior myocardial infarction C0279702 | hypernephroma C0240066 | iron deficiency C0239889 | severe headache C0221207 | cold urticaria C0162460 | reticulosis C0155288 | papilledema C0151950 | deep thrombophlebitis C0151945 | cerebral venous thrombosis C0042594 | vestibular disorders C0042133 | uterine fibroids C0033845 | benign intracranial hypertension C0033774 | pruritus C0030421 | paraganglioma C0027708 | wilms' tumor C0026764 | multiple myeloma C0023481 | chronic neutrophilic leukemia C0023473 | myelosis C0022660 | acute renal failure C0022116 | ischemia C0020502 | hyperparathyroidism C0018099 | gout C0017075 | ganglioneuroma C0015411 | eye manifestations C0005779 | coagulation disorder C0004936 | mental disorders C0004812 | basilar insufficiency C0001627 | congenital adrenal hyperplasia C0001418 | adenocarcinomas |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C0033774 | pruritus | 3 C0042133 | uterine fibroids | 1 C0022116 | ischemia | 1 C0038454 | stroke | 1 C0151945 | cerebral venous thrombosis | 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:52) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137853036 | 19208626 | 2034 | EPAS1 | umls:C0032461 | BeFree | We previously identified and characterized an erythrocytosis-associated HIF2A mutation, G537W. | 0.009348576 | 2009 | EPAS1 | 2 | 46380281 | G | A,T |
| rs28940298 | 24729484 | 7428 | VHL | umls:C0032461 | BeFree | Mutations in exon 3 of the VHL gene lead to Chuvash (VHL(R200W)) and Croatian (VHL(H191D)) polycythemias. | 0.01534016 | 2014 | VHL | 3 | 10149921 | C | T |
| rs28940298 | 23403324 | 8651 | SOCS1 | umls:C0032461 | BeFree | This observation contrasts with a report suggesting that polycythemia in VHL R200W and H191D homozygotes is due to the loss of JAK2 regulation from VHL R200W and H191D binding to SOCS1. | 0.000271442 | 2013 | VHL | 3 | 10149921 | C | T |
| rs28940298 | 23403324 | 3717 | JAK2 | umls:C0032461 | BeFree | This observation contrasts with a report suggesting that polycythemia in VHL R200W and H191D homozygotes is due to the loss of JAK2 regulation from VHL R200W and H191D binding to SOCS1. | 0.149484932 | 2013 | VHL | 3 | 10149921 | C | T |
| rs28940298 | 12415268 | 7428 | VHL | umls:C0032461 | BeFree | The gene associated with von Hippel-Lindau syndrome, VHL, maps to this region, and homozygosity with respect to a C-->T missense mutation in VHL, causing an arginine-to-tryptophan change at amino-acid residue 200 (Arg200Trp), was identified in all individuals affected with Chuvash polycythemia. | 0.01534016 | 2002 | VHL | 3 | 10149921 | C | T |
| rs28940298 | 15642664 | 7428 | VHL | umls:C0032461 | BeFree | A homozygous mutation (C598T->Arg200Trp) in the von Hippel-Lindau (VHL) gene was originally identified as the cause of the endemic Chuvash polycythemia. | 0.01534016 | 2005 | VHL | 3 | 10149921 | C | T |
| rs28940301 | 23403324 | 3717 | JAK2 | umls:C0032461 | BeFree | This observation contrasts with a report suggesting that polycythemia in VHL R200W and H191D homozygotes is due to the loss of JAK2 regulation from VHL R200W and H191D binding to SOCS1. | 0.149484932 | 2013 | VHL | 3 | 10149894 | C | G |
| rs28940301 | 23403324 | 8651 | SOCS1 | umls:C0032461 | BeFree | This observation contrasts with a report suggesting that polycythemia in VHL R200W and H191D homozygotes is due to the loss of JAK2 regulation from VHL R200W and H191D binding to SOCS1. | 0.000271442 | 2013 | VHL | 3 | 10149894 | C | G |
| rs28940301 | 24729484 | 7428 | VHL | umls:C0032461 | BeFree | Mutations in exon 3 of the VHL gene lead to Chuvash (VHL(R200W)) and Croatian (VHL(H191D)) polycythemias. | 0.01534016 | 2014 | VHL | 3 | 10149894 | C | G |
| rs386626619 | 18055983 | 3717 | JAK2 | umls:C0032461 | BeFree | Four novel JAK2 mutant alleles have recently been described in patients with V617F-negative myeloproliferative disorders presenting with erythrocytosis. | 0.149484932 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16503548 | 3717 | JAK2 | umls:C0032461 | BeFree | The incidence of the JAK2 V617F mutation in patients with idiopathic erythrocytosis. | 0.149484932 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 17183644 | 3717 | JAK2 | umls:C0032461 | BeFree | Molecular pathogenesis and therapy of polycythemia induced in mice by JAK2 V617F. | 0.149484932 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 21242185 | 3717 | JAK2 | umls:C0032461 | BeFree | These data also support the hypothesis that level of JAK2(V617F) expression influences the MPN phenotype: higher levels favor erythrocytosis whereas lower levels favor thrombocytosis. | 0.149484932 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 16987804 | 3717 | JAK2 | umls:C0032461 | BeFree | The JAK2 V617F mutation is absent in patients with erythrocytosis due to high oxygen affinity hemoglobin variants. | 0.149484932 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 19815050 | 3717 | JAK2 | umls:C0032461 | BeFree | Polycythemia vera (PV) is characterized by erythrocytosis associated with the presence of the activating JAK2(V617F) mutation in a variable proportion of hematopoietic cells. | 0.149484932 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 17317861 | 3717 | JAK2 | umls:C0032461 | BeFree | The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in up to 90% of patients with polycythemia and in a sizeable proportion of patients with other myeloproliferative disorders such as essential thrombocythemia and idiopathic myelofibrosis. | 0.149484932 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 25825724 | 3717 | JAK2 | umls:C0032461 | BeFree | Disrupting ATP binding in JH2 also inhibits the hyperactivity of other pathogenic JAK2 mutants, as well as of JAK1 V658F, and prevents induction of erythrocytosis in a JAK2 V617F myeloproliferative neoplasm mouse model. | 0.149484932 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 22313642 | 3717 | JAK2 | umls:C0032461 | BeFree | Peripheral blood mutation screening for JAK2 V617F can be incorporated into the initial work up of patients suspected to have polycythemia as this mutation is present in majority of such patients. | 0.149484932 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 16369984 | 3717 | JAK2 | umls:C0032461 | BeFree | The results of the current clinical study support previous laboratory observations that link JAK2(V617F) with the PV phenotype by demonstrating a mutant allele dose effect on erythrocytosis and clinical and laboratory features characteristic of PV. | 0.149484932 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 23057517 | 3717 | JAK2 | umls:C0032461 | BeFree | Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. | 0.149484932 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 17145859 | 3717 | JAK2 | umls:C0032461 | BeFree | These data suggest that erythrocytosis and granulocytosis in JAK2(V617F) mice are the net result of a complex interplay between cell intrinsic and extrinsic factors. | 0.149484932 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 16670266 | 3717 | JAK2 | umls:C0032461 | BeFree | This work demonstrates that JAK2(V617F) is sufficient for polycythemia and fibrosis development and offers an in vivo model to assess novel therapeutic approaches for JAK2(V617F)-positive pathologies. | 0.149484932 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 23057517 | 4352 | MPL | umls:C0032461 | BeFree | Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. | 0.000271442 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 18528646 | 3717 | JAK2 | umls:C0032461 | BeFree | JAK2 V617F mutation is rare in idiopathic erythrocytosis: a difference from polycythemia vera. | 0.149484932 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 22262773 | 3717 | JAK2 | umls:C0032461 | BeFree | The JAK2(V617F) mutation occurred in 27% of SP patients diagnosed according to the Polycythemia Vera Study Group or World Health Organization 2001 criteria. | 0.149484932 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 22234689 | 3717 | JAK2 | umls:C0032461 | BeFree | JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the loss of STAT5 did not prevent the development of myelofibrosis. | 0.149484932 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 19500139 | 3717 | JAK2 | umls:C0032461 | BeFree | Recently, several JAK2 exons 12 and 14 mutations have been detected in V617F-negative patients with idiopathic erythrocytosis. | 0.149484932 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 25040297 | 3717 | JAK2 | umls:C0032461 | BeFree | The objective of the present study was to evaluate the diagnostic accuracy of serum EPO and JAK2 V617F allele burden as markers of PV as well as the combination of different diagnostic criteria in 287 patients (99 with PV, 137 with Essential Thrombocythaemia and 51 with non-clonal erythrocytosis). | 0.149484932 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 25825724 | 3716 | JAK1 | umls:C0032461 | BeFree | Disrupting ATP binding in JH2 also inhibits the hyperactivity of other pathogenic JAK2 mutants, as well as of JAK1 V658F, and prevents induction of erythrocytosis in a JAK2 V617F myeloproliferative neoplasm mouse model. | 0.000271442 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 25040297 | 2056 | EPO | umls:C0032461 | BeFree | The objective of the present study was to evaluate the diagnostic accuracy of serum EPO and JAK2 V617F allele burden as markers of PV as well as the combination of different diagnostic criteria in 287 patients (99 with PV, 137 with Essential Thrombocythaemia and 51 with non-clonal erythrocytosis). | 0.019272373 | 2014 | NA | NA | NA | NA | NA |
| rs62638745 | 8608241 | 2057 | EPOR | umls:C0032461 | BeFree | No Epo-r gene mutation was found in 12 PV cases studied, but the same mutation (N487S) was found in 1 patient with polycythemia that did not fulfill the criteria of PV (polycythemia of unknown origin). | 0.130877538 | 1996 | EPOR | 19 | 11378051 | T | C |
| rs77375493 | 17145859 | 3717 | JAK2 | umls:C0032461 | BeFree | These data suggest that erythrocytosis and granulocytosis in JAK2(V617F) mice are the net result of a complex interplay between cell intrinsic and extrinsic factors. | 0.149484932 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16503548 | 3717 | JAK2 | umls:C0032461 | BeFree | The incidence of the JAK2 V617F mutation in patients with idiopathic erythrocytosis. | 0.149484932 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22262773 | 3717 | JAK2 | umls:C0032461 | BeFree | The JAK2(V617F) mutation occurred in 27% of SP patients diagnosed according to the Polycythemia Vera Study Group or World Health Organization 2001 criteria. | 0.149484932 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18528646 | 3717 | JAK2 | umls:C0032461 | BeFree | JAK2 V617F mutation is rare in idiopathic erythrocytosis: a difference from polycythemia vera. | 0.149484932 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19815050 | 3717 | JAK2 | umls:C0032461 | BeFree | Polycythemia vera (PV) is characterized by erythrocytosis associated with the presence of the activating JAK2(V617F) mutation in a variable proportion of hematopoietic cells. | 0.149484932 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22234689 | 3717 | JAK2 | umls:C0032461 | BeFree | JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the loss of STAT5 did not prevent the development of myelofibrosis. | 0.149484932 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19500139 | 3717 | JAK2 | umls:C0032461 | BeFree | Recently, several JAK2 exons 12 and 14 mutations have been detected in V617F-negative patients with idiopathic erythrocytosis. | 0.149484932 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21242185 | 3717 | JAK2 | umls:C0032461 | BeFree | These data also support the hypothesis that level of JAK2(V617F) expression influences the MPN phenotype: higher levels favor erythrocytosis whereas lower levels favor thrombocytosis. | 0.149484932 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16987804 | 3717 | JAK2 | umls:C0032461 | BeFree | The JAK2 V617F mutation is absent in patients with erythrocytosis due to high oxygen affinity hemoglobin variants. | 0.149484932 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23057517 | 4352 | MPL | umls:C0032461 | BeFree | Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. | 0.000271442 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17317861 | 3717 | JAK2 | umls:C0032461 | BeFree | The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in up to 90% of patients with polycythemia and in a sizeable proportion of patients with other myeloproliferative disorders such as essential thrombocythemia and idiopathic myelofibrosis. | 0.149484932 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25825724 | 3717 | JAK2 | umls:C0032461 | BeFree | Disrupting ATP binding in JH2 also inhibits the hyperactivity of other pathogenic JAK2 mutants, as well as of JAK1 V658F, and prevents induction of erythrocytosis in a JAK2 V617F myeloproliferative neoplasm mouse model. | 0.149484932 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22313642 | 3717 | JAK2 | umls:C0032461 | BeFree | Peripheral blood mutation screening for JAK2 V617F can be incorporated into the initial work up of patients suspected to have polycythemia as this mutation is present in majority of such patients. | 0.149484932 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25040297 | 3717 | JAK2 | umls:C0032461 | BeFree | The objective of the present study was to evaluate the diagnostic accuracy of serum EPO and JAK2 V617F allele burden as markers of PV as well as the combination of different diagnostic criteria in 287 patients (99 with PV, 137 with Essential Thrombocythaemia and 51 with non-clonal erythrocytosis). | 0.149484932 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18055983 | 3717 | JAK2 | umls:C0032461 | BeFree | Four novel JAK2 mutant alleles have recently been described in patients with V617F-negative myeloproliferative disorders presenting with erythrocytosis. | 0.149484932 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25825724 | 3716 | JAK1 | umls:C0032461 | BeFree | Disrupting ATP binding in JH2 also inhibits the hyperactivity of other pathogenic JAK2 mutants, as well as of JAK1 V658F, and prevents induction of erythrocytosis in a JAK2 V617F myeloproliferative neoplasm mouse model. | 0.000271442 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23057517 | 3717 | JAK2 | umls:C0032461 | BeFree | Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. | 0.149484932 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17183644 | 3717 | JAK2 | umls:C0032461 | BeFree | Molecular pathogenesis and therapy of polycythemia induced in mice by JAK2 V617F. | 0.149484932 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25040297 | 2056 | EPO | umls:C0032461 | BeFree | The objective of the present study was to evaluate the diagnostic accuracy of serum EPO and JAK2 V617F allele burden as markers of PV as well as the combination of different diagnostic criteria in 287 patients (99 with PV, 137 with Essential Thrombocythaemia and 51 with non-clonal erythrocytosis). | 0.019272373 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16670266 | 3717 | JAK2 | umls:C0032461 | BeFree | This work demonstrates that JAK2(V617F) is sufficient for polycythemia and fibrosis development and offers an in vivo model to assess novel therapeutic approaches for JAK2(V617F)-positive pathologies. | 0.149484932 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16369984 | 3717 | JAK2 | umls:C0032461 | BeFree | The results of the current clinical study support previous laboratory observations that link JAK2(V617F) with the PV phenotype by demonstrating a mutant allele dose effect on erythrocytosis and clinical and laboratory features characteristic of PV. | 0.149484932 | 2006 | 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 | 678 |
|---|---|
| Disease | polycythemia |
| Case | (Waiting for update.) |