MCID: PLY001
MIFTS: 85

Polycythemia Vera malady

Genetic diseases, Rare diseases, Cancer diseases, Blood diseases categories

Summaries for Polycythemia Vera

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Genetics Home Reference:23 Polycythemia vera is a condition characterized by an increased number of red blood cells in the bloodstream. Affected individuals may also have excess white blood cells and blood clotting cells called platelets. These extra cells cause the blood to be thicker than normal. As a result, abnormal blood clots are more likely to form and block the flow of blood through arteries and veins. Individuals with polycythemia vera have an increased risk of deep vein thrombosis (DVT), a type of blood clot that occurs in the deep veins of the arms or legs. If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE). Affected individuals also have an increased risk of heart attack and stroke caused by blood clots in the heart and brain.

MalaCards based summary: Polycythemia Vera, also known as osler-vaquez disease, is related to polycythemia and essential thrombocythemia, and has symptoms including gingival bleeding, tinnitus and epistaxis. An important gene associated with Polycythemia Vera is JAK2 (Janus kinase 2), and among its related pathways are Paxillin-dependent events mediated by a4b1 and Type II interferon signaling (IFNG). The drugs busulfan and hydroxyurea and the compounds pp 100 and filgrastim have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and bone marrow, and related mouse phenotypes are adipose tissue and liver/biliary system.

NIH Rare Diseases:43 Polycythemia vera (pv) is a condition characterized by an increased number of red blood cells in the bloodstream. affected people may also have excess white blood cells and platelets. these extra cells cause the blood to be thicker than normal, increasing the risk for blood clots that can block blood flow in arteries and veins. people with pv have an increased risk of deep vein thrombosis which can cause a pulmonary embolism, heart attack, and stroke. most cases of pv are not inherited and are acquired during a person's lifetime. in rare cases, the risk for pv runs in families and may be inherited in an autosomal dominant manner. the condition has been associated with mutations in the jak2 and tet2 genes. last updated: 9/7/2014

OMIM:47 Polycythemia vera, the most common form of primary polycythemia, is caused by somatic mutation in a single... (263300) more...

Wikipedia:65 Polycythemia (or Polycythaemia, see spelling differences) vera (PV, PCV) (also known as erythremia,... more...

Aliases & Classifications for Polycythemia Vera

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Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 57SNOMED-CT, 29ICD9CM, 35MeSH, 40NCIt, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet, 27ICD10
See all sources

Polycythemia Vera, Aliases & Descriptions:

Name: Polycythemia Vera 47 10 11 43 23 12 45 49 24 62
Osler-Vaquez Disease 43 23 49 62
Primary Polycythemia 43 23 62
Erythremia 10 43 49
Pv 43 23 49
Acquired Primary Erythocytosis 43 49
Proliferative Polycythaemia 10 62
 
Polycythaemia Rubra Vera 10 62
Polycythemia Rubra Vera 43 49
Polycythemia Ruba Vera 23 62
Osler-Vaquez Syndrome 10 62
Vaquez Disease 43 49
Prv 43 23


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

49
polycythemia vera:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-5/10000 (Europe); Age of onset: All ages; Age of death: normal life expectancy


External Ids:

OMIM47 263300
Disease Ontology10 DOID:8997
ICD9CM29 238.4
MeSH35 D011087
NCIt40 C3336
Orphanet49 729
MESH via Orphanet36 D011087
ICD10 via Orphanet28 D45
UMLS via Orphanet63 C0032463
ICD1027 D45

Related Diseases for Polycythemia Vera

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Diseases related to Polycythemia Vera via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 215)
idRelated DiseaseScoreTop Affiliating Genes
1polycythemia32.3EPOR, EPO, JAK2, STAT5A, KITLG, CD177
2essential thrombocythemia31.8STAT5A, IFNA2, KITLG, CD177, THPO, THBD
3myelofibrosis31.7EPO, THPO, MPL, JAK2
4leukemia30.9CD177, HMGA2, KITLG, PDGFRB, CSF3R, ACP1
5thrombocytosis30.9TET2, THPO, THBD, MPL, PF4, EPOR
6erythromelalgia30.8THBD, PF4
7splenomegaly30.8JAK2, EPO, MPL, IFNA2, THPO
8myeloid leukemia30.7KITLG, CSF3R, ACP1, STAT5A, THPO, PTPN6
9primary polycythemia30.7JAK2, EPOR, STAT5A, EPO
10chronic lymphocytic leukemia30.6CSF3R, THPO, JAK2
11ischemia30.6SOCS3, EPOR, JAK2, PF4
12thrombocytopenia30.6IFNA2, KITLG, THPO, THBD, MPL, PF4
13purpura30.3THPO
14pancytopenia30.3EPO, MPL, THPO
15hepatitis c30.3IFNA2, SOCS3, THPO
16disseminated intravascular coagulation30.3THBD, THPO, PF4
17eosinophilia30.2PDGFRB, IFNA2, JAK2
18b-cell lymphomas30.2STAT5A, PTPN6, HMGA2, JAK2
19chronic myeloproliferative disease30.2JAK2, MPL, THPO, PDGFRB
20acute myocardial infarction30.2KITLG, THBD, PF4
21refractory anemia30.2KITLG, MPL, THPO, EPOR, EPO, JAK2
22vascular disease30.2PF4, JAK2, THBD
23atherosclerosis30.2PDGFRB, SOCS3, PF4, THBD, ACP1
24chronic myelomonocytic leukemia30.1JAK2, MPL, CSF3R, PDGFRB, KITLG, STAT5A
25sarcoma30.1PDGFRB, KITLG, THPO, JAK2, HMGA2, ACP1
26myeloma30.1TYK2, EPOR, PF4, EPO, JAK2, ACP1
27myelodysplastic syndrome30.1MPL, THPO, EPOR, EPO, JAK2, STAT5A
28malaria30.1ACP1
29budd-chiari syndrome10.6
30endotheliitis10.6
31cerebritis10.5
32chronic neutrophilic leukemia10.5
33hepatitis10.5
34hemochromatosis10.4
35focal segmental glomerulosclerosis10.4
36splenic infarction10.4
37glomerulosclerosis10.4
38neuropathy10.4
39heparin-induced thrombocytopenia10.4
40osteonecrosis10.4
41coronary thrombosis10.4
42glossitis10.4
43persistent vegetative state10.4
44gastrointestinal stromal tumor10.3
45porokeratosis10.3
46pernicious anemia10.3
47peripheral neuropathy10.3
48chronic erythremia10.3
49myocardial infarction10.3
50glomerulonephritis10.3

Graphical network of the top 20 diseases related to Polycythemia Vera:



Diseases related to polycythemia vera

Symptoms for Polycythemia Vera

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Symptoms by clinical synopsis from OMIM:

263300

Clinical features from OMIM:

263300

Symptoms:

 49 (show all 25)
  • tinnitus
  • dizziness
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • ecchymoses
  • acute abdominal pain/colic
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • angor pectoris/myocardial infarction
  • chronic arterial hypertension
  • facial pain/cephalalgia/migraine
  • epistaxis/nose bleeding
  • gingivorrhagia/gingival bleeding
  • acute leukemia
  • myelodysplastic syndrome
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • articular/joint pain/arthralgia
  • asthenia/fatigue/weakness
  • claudication/pain on mastication/while chewing
  • pruritus/itching
  • portal hypertension
  • arterial embolism/thrombosis
  • venous thrombosis/phlebitis/thrombophlebitis
  • transient cerebral ischemia/stroke

HPO human phenotypes related to Polycythemia Vera:

(show all 37)
id Description Frequency HPO Source Accession
1 gingival bleeding hallmark (90%) HP:0000225
2 tinnitus hallmark (90%) HP:0000360
3 epistaxis hallmark (90%) HP:0000421
4 bruising susceptibility hallmark (90%) HP:0000978
5 coronary artery disease hallmark (90%) HP:0001677
6 splenomegaly hallmark (90%) HP:0001744
7 weight loss hallmark (90%) HP:0001824
8 abdominal pain hallmark (90%) HP:0002027
9 migraine hallmark (90%) HP:0002076
10 gastrointestinal hemorrhage hallmark (90%) HP:0002239
11 hepatomegaly hallmark (90%) HP:0002240
12 vertigo hallmark (90%) HP:0002321
13 acute leukemia hallmark (90%) HP:0002488
14 myelodysplasia hallmark (90%) HP:0002863
15 respiratory insufficiency typical (50%) HP:0002093
16 arthralgia typical (50%) HP:0002829
17 pruritus occasional (7.5%) HP:0000989
18 portal hypertension occasional (7.5%) HP:0001409
19 cerebral ischemia occasional (7.5%) HP:0002637
20 thrombophlebitis occasional (7.5%) HP:0004418
21 arterial thrombosis occasional (7.5%) HP:0004420
22 autosomal dominant inheritance HP:0000006
23 cerebral hemorrhage HP:0001342
24 somatic mutation HP:0001428
25 splenomegaly HP:0001744
26 thrombocytopenia HP:0001873
27 thrombocytosis HP:0001894
28 increased red blood cell mass HP:0001898
29 increased hematocrit HP:0001899
30 increased hemoglobin HP:0001900
31 thromboembolism HP:0001907
32 leukocytosis HP:0001974
33 gastrointestinal hemorrhage HP:0002239
34 cerebral ischemia HP:0002637
35 budd-chiari syndrome HP:0002639
36 sporadic HP:0003745
37 increased megakaryocyte count HP:0005513

Drugs & Therapeutics for Polycythemia Vera

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Drug clinical trials:

Search ClinicalTrials for Polycythemia Vera

Search NIH Clinical Center for Polycythemia Vera

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Polycythemia Vera

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Genetic tests related to Polycythemia Vera:

id Genetic test Affiliating Genes
1 Polycythemia Vera24

Anatomical Context for Polycythemia Vera

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MalaCards organs/tissues related to Polycythemia Vera:

33
Heart, Bone, Bone marrow, Myeloid, Lung, Brain, Neutrophil, Endothelial, Liver, Testes, B cells, Spinal cord, Prostate, T cells, Whole blood, Skin, Monocytes

Animal Models for Polycythemia Vera or affiliated genes

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Publications for Polycythemia Vera

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Articles related to Polycythemia Vera:

(show top 50)    (show all 674)
idTitleAuthorsYear
1
Long-term survival and blast transformation in molecularly annotated essential thrombocythemia, polycythemia vera, and myelofibrosis. (25037629)
2014
2
How I treat Polycythemia vera. (25278584)
2014
3
Concomitant JAK2 V617F-positive polycythemia vera and B-cell chronic lymphocytic leukemia in three patients originating from two separate hematopoietic stem cells. (23280542)
2013
4
A phase 2 study of ruxolitinib, an oral JAK1 and JAK2 inhibitor, in patients with advanced polycythemia vera who are refractory or intolerant to hydroxyurea. (24258498)
2013
5
Macrophages support pathological erythropoiesis in polycythemia vera and I^-thalassemia. (23502961)
2013
6
Polycythemia vera: current pharmacotherapy and future directions. (23480062)
2013
7
Acute embolic cerebral ischemia as an initial presentation of polycythemia vera: a case report. (23683307)
2013
8
Treatment target in polycythemia vera. (23594012)
2013
9
Impending anterior ischemic optic neuropathy with elements of retinal vein occlusion in a patient on interferon for polycythemia vera. (23152654)
2012
10
Detection of JAK2 mutations in paraffin marrow biopsies by high resolution melting analysis: identification of L611S alone and in cis with V617F in polycythemia vera. (22642932)
2012
11
Evaluation of hemostatic balance in blood from patients with polycythemia vera by means of thromboelastography: the effect of isovolemic erythrocytapheresis. (22098131)
2012
12
Severe chest and back pain and bilateral massive adrenal swelling in polycythemia vera: an uncommon case after esophagectomy. (22643542)
2012
13
Molecular profiling of peripheral blood cells from patients with polycythemia vera and related neoplasms: identification of deregulated genes of significance for inflammation and immune surveillance. (22877729)
2012
14
Treatment of polycythemia vera with imatinib mesylate. (21983176)
2012
15
Extent of hematopoietic involvement by TET2 mutations in JAK2Va8PA^a8^F polycythemia vera. (21273266)
2011
16
Reversible abnormal functional neuroimaging presentations in polycythemia vera with chorea. (21559940)
2011
17
JAK2 V617F and the evolving paradigm of polycythemia vera. (21120186)
2010
18
Depletion of L3MBTL1 promotes the erythroid differentiation of human hematopoietic progenitor cells: possible role in 20q- polycythemia vera. (20585043)
2010
19
Polycythemia vera as a presentation of renal angiomyolipoma: a case report. (19946506)
2009
20
The presence of JAK2V617F in primary myelofibrosis or its allele burden in polycythemia vera predicts chemosensitivity to hydroxyurea. (18266209)
2008
21
Sustained major molecular response on interferon alpha-2b in two patients with polycythemia vera. (18481066)
2008
22
Recurrent thrombosis in patients with polycythemia vera and essential thrombocythemia: incidence, risk factors, and effect of treatments. (18268279)
2008
23
Identification of JAK2V617F in patients with polycythemia is highly correlated with conventional criteria for diagnosis of polycythemia vera. (16924638)
2007
24
JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. (17267906)
2007
25
Polycythemia vera is not initiated by JAK2V617F mutation. (17198871)
2007
26
Polycythemia vera and JAK-2 mutation in childhood: a case report]. (17693067)
2007
27
A higher JAK2 V617F-mutated clone is observed in platelets than in granulocytes from essential thrombocythemia patients, but not in patients with polycythemia vera and primary myelofibrosis. (17361221)
2007
28
Anticoagulation after coronary artery surgery in patients with polycythemia vera: report of two cases. (17803581)
2007
29
Hematopoietic cell transplantation as curative therapy for idiopathic myelofibrosis, advanced polycythemia vera, and essential thrombocythemia. (17317589)
2007
30
Risk of thrombosis in patients with essential thrombocythemia and polycythemia vera according to JAK2 V617F mutation status. (17229651)
2007
31
Imatinib effect on growth and signal transduction in polycythemia vera. (17533047)
2007
32
Elevated serum erythropoietin levels in patients with Budd-Chiari syndrome secondary to polycythemia vera: clinical implications for the role of JAK2 mutation analysis. (16827884)
2006
33
Minimal molecular response in polycythemia vera patients treated with imatinib or interferon alpha. (16352805)
2006
34
Polycythemia vera and its molecular basis: an update. (16781479)
2006
35
Arterial stenosis and atherothrombotic events in polycythemia vera and essential thrombocythemia. (18386616)
2006
36
Subarachnoid hemorrhage and diplopia as initial presentation of polycythemia vera. (15761220)
2005
37
Karyotype and molecular cytogenetic studies in polycythemia vera. (15865876)
2005
38
JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor. (16239216)
2005
39
Bone marrow histopathology and biological markers as specific clues to the differential diagnosis of essential thrombocythemia, polycythemia vera and prefibrotic or fibrotic agnogenic myeloid metaplasia. (15048058)
2004
40
Diagnostic approaches to polycythemia vera in 2004. (15225097)
2004
41
The rate of progression to polycythemia vera or essential thrombocythemia in patients with erythrocytosis or thrombocytosis. (13679323)
2003
42
Pseudohyperkalemia occurring in a patient with chronic renal failure and polycythemia vera without severe leukocytosis or thrombocytosis. (12508968)
2002
43
Posttranslational processing of the thrombopoietin receptor is impaired in polycythemia vera. (10515857)
1999
44
Historical perspective on the treatment of essential thrombocythemia and polycythemia vera. (9930553)
1999
45
Interleukin-10 inhibits erythropoietin-independent growth of erythroid bursts in patients with polycythemia vera. (9731054)
1998
46
Pathogenesis of polycythemia vera. (9549927)
1998
47
End-stage renal disease following polycythemia vera: in vitro and in vivo response of erythroid progenitors to erythropoietin and effects of sera on normal erythropoiesis. (9647492)
1998
48
Increased basal and induced tyrosine phosphorylation of the insulin-like growth factor I receptor beta subunit in circulating mononuclear cells of patients with polycythemia vera. (7542500)
1995
49
Megakaryoblastic transformation associated with disseminated intravascular coagulation in the course of polycythemia vera: a case report]. (1602615)
1992
50
Polycythemia vera terminating in chronic neutrophilic leukemia: report of a case. (2399908)
1990

Variations for Polycythemia Vera

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UniProtKB/Swiss-Prot genetic disease variations for Polycythemia Vera:

64
id Symbol AA change Variation ID SNP ID
1JAK2p.Val617PheVAR_032697

Clinvar genetic disease variations for Polycythemia Vera:

7
id Gene Variation Type Significance SNP ID Assembly Location
1JAK2NM_004972.3(JAK2): c.1849G> T (p.Val617Phe)single nucleotide variantPathogenic, risk factorrs77375493GRCh37Chr 9, 5073770: 5073770

Expression for genes affiliated with Polycythemia Vera

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Search GEO for disease gene expression data for Polycythemia Vera.

Pathways for genes affiliated with Polycythemia Vera

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Pathways related to Polycythemia Vera according to GeneCards/GeneDecks:

(show top 50)    (show all 60)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Paxillin-independent events mediated by a4b1 and a4b738
a4b1 and a4b7 Integrin signaling38
9.8EPOR, EPO, JAK2
29.7JAK2, IFNA2, SOCS3
39.6TYK2, JAK2, IFNA2
49.6SOCS3, JAK2, TYK2
59.6JAK2, SOCS3, TYK2
6
Show member pathways
9.5JAK2, STAT5A, SOCS3
79.4PTPN6, JAK2, STAT5A
89.4PTPN6, JAK2, STAT5A
9
Show member pathways
IL27-mediated signaling events38
9.4TYK2, JAK2, STAT5A
10
Show member pathways
Immune response IL 12 induced IFN gamma production60
9.4STAT5A, TYK2, JAK2
11
Show member pathways
9.4TYK2, STAT5A, JAK2
12
Show member pathways
9.2IFNA2, SOCS3, PTPN6, TYK2
13
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
9.2PTPN6, JAK2, SOCS3, PDGFRB
14
Show member pathways
Immune response IL 3 activation and signaling pathway60
9.2SOCS3, STAT5A, JAK2, PTPN6
159.2STAT5A, JAK2, SOCS3, PTPN6
169.2STAT5A, JAK2, PTPN6, SOCS3
179.2PTPN6, SOCS3, JAK2, STAT5A
189.1TYK2, SOCS3, JAK2, STAT5A
19
Show member pathways
Immune response IL 22 signaling pathway60
G protein signaling N RAS regulation pathway60
9.1SOCS3, JAK2, STAT5A, TYK2
209.1TYK2, SOCS3, STAT5A, JAK2
219.0KITLG, THPO, EPOR, EPO, CSF3R
22
Show member pathways
9.0PTPN6, EPOR, EPO, JAK2, STAT5A
238.9PTPN6, SOCS3, STAT5A, TYK2
24
Show member pathways
8.9CD177, THBD, PTPN6, PF4
25
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
8.8EPO, JAK2, PDGFRB, EPOR, KITLG
26
Show member pathways
8.8TYK2, SOCS3, JAK2, STAT5A, IFNA2
27
Show member pathways
8.7STAT5A, TYK2, PTPN6, SOCS3, JAK2
288.7STAT5A, TYK2, PTPN6, SOCS3, JAK2
298.7SOCS3, PTPN6, TYK2, JAK2, STAT5A
30
Show member pathways
EPO Receptor Signaling38
EPO signaling pathway38
8.7JAK2, EPO, EPOR, SOCS3, PTPN6, STAT5A
31
Show member pathways
8.6KITLG, PDGFRB, JAK2, TYK2, THPO
328.6TYK2, SOCS3, JAK2, PDGFRB, KITLG
338.6PDGFRB, ACP1, STAT5A
34
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
8.6THPO, TYK2, MPL, JAK2, STAT5A, SOCS3
35
Show member pathways
IL23-mediated signaling events38
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling38
Development PDGF signaling via STATs and NF kB60
Development Angiopoietin Tie2 signaling60
8.5PDGFRB, STAT5A, SOCS3, JAK2, TYK2
368.5STAT5A, JAK2, SOCS3, PDGFRB, TYK2
37
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)38
8.5JAK2, KITLG, STAT5A, EPO, EPOR, PTPN6
38
Show member pathways
8.5IFNA2, STAT5A, JAK2, SOCS3, PTPN6, TYK2
39
Show member pathways
8.5PTPN6, JAK2, STAT5A, KITLG, PDGFRB
40
Show member pathways
8.3EPOR, THPO, KITLG, JAK2, STAT5A, PDGFRB
418.3IFNA2, CSF3R, JAK2, EPO, PDGFRB, KITLG
42
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway60
8.3THPO, TYK2, STAT5A, JAK2, SOCS3, MPL
43
Show member pathways
8.0IFNA2, THPO, CD177, THBD, PTPN6, JAK2
44
Show member pathways
7.8PDGFRB, THPO, PTPN6, PF4, JAK2, CSF3R
45
Show member pathways
7.6KITLG, PDGFRB, STAT5A, JAK2, PF4, SOCS3
46
Show member pathways
Type III interferon signaling38
7.5CSF3R, IFNA2, TYK2, PTPN6, MPL, SOCS3
47
Show member pathways
7.4THPO, KITLG, PF4, EPOR, STAT5A, CSF3R
48
Show member pathways
7.4EPOR, PDGFRB, KITLG, PF4, THPO, CSF3R
49
Show member pathways
6.9SOCS3, MPL, TYK2, THPO, EPO, JAK2
50
Show member pathways
6.2KITLG, CSF3R, TYK2, MPL, SOCS3, PF4

Compounds for genes affiliated with Polycythemia Vera

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Compounds related to Polycythemia Vera according to GeneCards/GeneDecks:

(show top 50)    (show all 147)
idCompoundScoreTop Affiliating Genes
1pp 100459.9EPOR, JAK2, EPO
2filgrastim45 1310.4KITLG, CSF3R, IFNA2, EPO, THPO
3methylcellulose459.3CSF3R, EPO, KITLG, THPO, EPOR
4gm-csf45 3010.1THPO, EPO, STAT5A, KITLG
5anagrelide45 1310.1JAK2, EPO, PF4, MPL, IFNA2, THPO
65-aza-2deoxycytidine459.0THPO, PTPN6, EPO, JAK2, SOCS3, KITLG
7hydroxyurea45 51 1310.8KITLG, IFNA2, JAK2, PF4, EPO, THPO
8cytarabine45 51 1310.8KITLG, THPO, PTPN6, EPO, STAT5A, IFNA2
9polyethylene glycol458.7THPO, THBD, PF4, IFNA2, KITLG, MPL
10phenylalanine458.7CSF3R, STAT5A, JAK2, EPOR, PDGFRB, PTPN6
11aspirin45 51 30 2611.7MPL, PF4, THPO, THBD, JAK2, KITLG
12actinomycin d458.6THBD, JAK2, THPO, EPOR, KITLG, HMGA2
13sodium orthovanadate45 619.6JAK2, ACP1, TYK2, PTPN6, STAT5A
145fluorouracil458.4THPO, PF4, IFNA2, PDGFRB, MPL, KITLG
15imatinib45 51 1310.4KITLG, PDGFRB, CSF3R, STAT5A, JAK2, EPO
16lysine458.3IFNA2, PF4, JAK2, MPL, THPO, KITLG
17herbimycin a45 619.2PTPN6, KITLG, ACP1, JAK2, STAT5A
18epinephrine45 26 1310.1ACP1, THPO, PF4, KITLG, IFNA2, JAK2
19nitric oxide45 26 1310.1THPO, THBD, PTPN6, EPOR, JAK2, KITLG
20vanadate458.1PDGFRB, TYK2, PTPN6, JAK2, STAT5A, ACP1
21indomethacin45 30 61 1311.0PF4, THPO, STAT5A, JAK2, IFNA2, ACP1
22aspartate458.0ACP1, IFNA2, STAT5A, JAK2, EPO, PTPN6
23steroid457.9KITLG, THPO, THBD, EPOR, JAK2, IFNA2
24cyclosporin a45 30 619.9KITLG, ACP1, STAT5A, JAK2, EPO, THBD
25oligonucleotide457.8PTPN6, EPOR, JAK2, CSF3R, SOCS3, PDGFRB
26rapamycin457.8KITLG, ACP1, STAT5A, JAK2, EPO, THPO
27adp45 30 269.8THPO, THBD, TYK2, PTPN6, MPL, PF4
28cisplatin45 51 61 1310.8IFNA2, EPO, EPOR, JAK2, ACP1, HMGA2
29cycloheximide457.7ACP1, STAT5A, JAK2, SOCS3, THBD, KITLG
30agar457.6EPOR, MPL, THPO, JAK2, PDGFRB, PF4
31thymidine45 268.5JAK2, STAT5A, EPOR, CSF3R, KITLG, PF4
32genistein45 30 61 3 26 1312.5CSF3R, STAT5A, JAK2, ACP1, THPO, PDGFRB
33dexamethasone45 51 30 1310.4KITLG, STAT5A, THPO, THBD, ACP1, CSF3R
34h2o2457.4ACP1, JAK2, PTPN6, THBD, TYK2, THPO
35phosphotyrosine457.3EPOR, STAT5A, ACP1, CSF3R, PDGFRB, SOCS3
36ly294002457.2ACP1, EPO, TYK2, KITLG, PDGFRB, STAT5A
37lipid457.0JAK2, PF4, SOCS3, PTPN6, THBD, KITLG
38gp 130457.0PTPN6, KITLG, PDGFRB, TYK2, THPO, SOCS3
39wortmannin456.9JAK2, KITLG, THPO, PDGFRB, ACP1, STAT5A
40glucose456.8PDGFRB, IFNA2, THPO, THBD, KITLG, STAT5A
41estrogen456.6KITLG, PDGFRB, THPO, THBD, PTPN6, SOCS3
42cysteine456.6STAT5A, IFNA2, PDGFRB, ACP1, THBD, THPO
43oxygen45 267.5KITLG, PDGFRB, ACP1, IFNA2, STAT5A, JAK2
44calcium45 51 26 139.3EPOR, JAK2, STAT5A, CSF3R, PDGFRB, KITLG
45serine456.2MPL, SOCS3, CSF3R, EPOR, JAK2, STAT5A
46phosphatidylinositol456.1STAT5A, JAK2, EPO, EPOR, SOCS3, MPL
47retinoic acid45 267.1CSF3R, THPO, THBD, TYK2, IFNA2, PTPN6
48vegf455.6KITLG, THPO, THBD, PTPN6, MPL, PF4
49alanine455.4ACP1, IFNA2, STAT5A, JAK2, EPOR, PF4
50tyrosine454.7THPO, THBD, TYK2, IFNA2, STAT5A, JAK2

GO Terms for genes affiliated with Polycythemia Vera

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Cellular components related to Polycythemia Vera according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055768.4PF4, EPOR, EPO, IFNA2, CSF3R, KITLG
2extracellular spaceGO:00056158.0THPO, THBD, PF4, EPO, IFNA2, KITLG

Biological processes related to Polycythemia Vera according to GeneCards/GeneDecks:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of tyrosine phosphorylation of Stat5 proteinGO:004252310.1EPO, JAK2
2mammary gland epithelium developmentGO:006118010.0STAT5A, JAK2
3regulation of interferon-gamma-mediated signaling pathwayGO:006033410.0SOCS3, JAK2, PTPN6
4positive regulation of phosphoprotein phosphatase activityGO:003251610.0PDGFRB, JAK2
5interferon-gamma-mediated signaling pathwayGO:00603339.9PTPN6, SOCS3, JAK2
6negative regulation of DNA bindingGO:00433929.9HMGA2, JAK2
7response to hyperoxiaGO:00550939.9PDGFRB, EPO
8myeloid cell differentiationGO:00300999.9TET2, THPO
9positive regulation of Ras protein signal transductionGO:00465799.9KITLG, EPO
10response to lipopolysaccharideGO:00324969.8JAK2, THBD, EPO
11negative regulation of mast cell apoptotic processGO:00330269.8STAT5A, KITLG
12positive regulation of mast cell proliferationGO:00706689.8KITLG, STAT5A
13JAK-STAT cascadeGO:00072599.8STAT5A, JAK2, SOCS3
14leukocyte migrationGO:00509009.7CD177, THBD, PTPN6
15positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.7PTPN6, PDGFRB, JAK2
16regulation of type I interferon-mediated signaling pathwayGO:00603389.6IFNA2, PTPN6, TYK2, SOCS3
17type I interferon signaling pathwayGO:00603379.5SOCS3, TYK2, PTPN6, IFNA2
18JAK-STAT cascade involved in growth hormone signaling pathwayGO:00603979.5SOCS3, STAT5A, JAK2, PTPN6
19cell proliferationGO:00082839.4KITLG, THPO, PTPN6, MPL
20adrenal gland developmentGO:00303259.3HMGA2, PDGFRB
21positive regulation of cell proliferationGO:00082849.2PTPN6, EPO, JAK2, PDGFRB
22peptidyl-tyrosine phosphorylationGO:00181088.9JAK2, STAT5A, PDGFRB, TYK2, PTPN6
23cytokine-mediated signaling pathwayGO:00192218.7SOCS3, PF4, JAK2, PTPN6, TYK2, IFNA2
24signal transductionGO:00071658.5JAK2, PDGFRB, CSF3R, EPO, EPOR, HMGA2
25blood coagulationGO:00075968.4CD177, THPO, THBD, PTPN6, MPL, PF4

Molecular functions related to Polycythemia Vera according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1growth hormone receptor bindingGO:000513110.0JAK2, TYK2
2type 1 angiotensin receptor bindingGO:00317029.9TYK2, JAK2
3cytokine receptor activityGO:00048969.9MPL, CSF3R
4cytokine activityGO:00051259.5KITLG, IFNA2, THPO
5phosphatidylinositol 3-kinase bindingGO:00435489.5PDGFRB, JAK2
6protein tyrosine kinase activityGO:00047139.4PDGFRB, JAK2, TYK2
7protein bindingGO:00055155.1HMGA2, TET2, THBD, TYK2, PTPN6, SOCS3

Products for genes affiliated with Polycythemia Vera

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  • Antibodies
  • Proteins
  • Lysates
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  • Proteins
  • Kits and Assays

Sources for Polycythemia Vera

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet