MCID: PRM012
MIFTS: 52

Primary Polycythemia malady

Categories: Immune diseases, Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Primary Polycythemia

Aliases & Descriptions for Primary Polycythemia:

Name: Primary Polycythemia 12 14
Familial Erythrocytosis 12 25 29 69
Polycythemia, Primary Familial and Congenital 42
Primary Familial Polycythemia 25
Benign Familial Polycythemia 25
Congenital Erythrocytosis 25
Hereditary Erythrocytosis 25
Erythrocytosis, Familial 52
Familiar Polycythemia 12
Familial Polycythemia 25
Polycythemia Vera 69

Classifications:



External Ids:

Disease Ontology 12 DOID:10780
ICD10 33 D75.0
ICD9CM 35 289.6
MeSH 42 C536842
NCIt 47 C26955
UMLS 69 C0152264

Summaries for Primary Polycythemia

Genetics Home Reference : 25 Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). The primary function of these cells is to carry oxygen from the lungs to tissues and organs throughout the body. Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. The excess red blood cells also increase the risk of developing abnormal blood clots that can block the flow of blood through arteries and veins. If these clots restrict blood flow to essential organs and tissues (particularly the heart, lungs, or brain), they can cause life-threatening complications such as a heart attack or stroke. However, many people with familial erythrocytosis experience only mild signs and symptoms or never have any problems related to their extra red blood cells.

MalaCards based summary : Primary Polycythemia, also known as familial erythrocytosis, is related to erythrocytosis, somatic and erythrocytosis, familial, 3, and has symptoms including pruritus, arthralgia and fatigue. An important gene associated with Primary Polycythemia is EPOR (Erythropoietin Receptor), and among its related pathways/superpathways are PEDF Induced Signaling and TGF-Beta Pathway. The drugs Acetazolamide and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and brain, and related phenotypes are cellular and embryo

Related Diseases for Primary Polycythemia

Diseases in the Polycythemia family:

Primary Polycythemia Acquired Polycythemia
Polycythemia Due to Hypoxia Autosomal Dominant Secondary Polycythemia

Diseases related to Primary Polycythemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
id Related Disease Score Top Affiliating Genes
1 erythrocytosis, somatic 31.5 EPO EPOR IL3 JAK2 SOCS3
2 erythrocytosis, familial, 3 12.2
3 erythrocytosis, familial, 4 12.2
4 erythrocytosis, familial, 2 12.2
5 polycythemia vera, somatic 11.5
6 polycythemia 10.1
7 disseminated intravascular coagulation 10.0 EPO EPOR
8 extranodal nasal nk/t cell lymphoma 10.0 EPO EPOR
9 sinusitis 10.0 IL3 JAK2
10 spondylocostal dysostosis 2 10.0 EPO JAK2
11 focal epilepsy 9.9 JAK2 SOCS3
12 dic in newborn 9.9 EPO EPOR IL3
13 neuronal ceroid-lipofuscinoses 9.9 EPO EPOR IL3
14 long qt syndrome 9.9 EPO EPOR JAK2
15 pyloric stenosis, infantile hypertrophic, 4 9.9 EPO IL3 JAK2
16 acute liver failure 9.9 EPO EPOR JAK2
17 von hippel anomaly 9.9 EPO IL3 JAK2
18 granulomatous hepatitis 9.8 EPO IL3 JAK2
19 meningeal melanocytoma 9.8 EPO IL3
20 acute posterior multifocal placoid pigment epitheliopathy 9.8 EGLN1 VHL
21 peroxisome biogenesis disorder 7a 9.8 EPO IL3 JAK2
22 granular cell leiomyosarcoma 9.8 EPO EPOR VHL
23 cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 9.7 EPO EPOR IL3 JAK2
24 actinobacillosis 9.7 EPO EPOR IL3 JAK2
25 drug-induced hepatitis 9.7 EPO EPOR IL3 JAK2
26 leukemia, acute myeloid 9.7 EPO EPOR IL3 JAK2
27 thrombocytosis 9.7
28 atrioventricular septal defect 2 9.6 EGLN1 EPO EPOR VHL
29 basilar artery insufficiency 9.6 EPO EPOR IL3 JAK2 SOCS3
30 hodgkin lymphoma 9.5
31 leukemia 9.5
32 lymphoma 9.5
33 myeloid leukemia 9.5
34 intestinal impaction 9.2 EGLN1 EPO EPOR IL3 JAK2 VHL
35 queensland tick typhus 9.0 EGLN1 EPO EPOR IL3 JAK2 SOCS3

Comorbidity relations with Primary Polycythemia via Phenotypic Disease Network (PDN):


Acquired Polycythemia Chronic Pulmonary Heart Disease
Familial Atrial Fibrillation Heart Disease
Hypertension, Essential Ischemic Heart Disease
Peripheral Vascular Disease Respiratory Failure
Tn Polyagglutination Syndrome, Somatic Transient Cerebral Ischemia

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



Diseases related to Primary Polycythemia

Symptoms & Phenotypes for Primary Polycythemia

Human phenotypes related to Primary Polycythemia:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 pruritus 32 HP:0000989
2 arthralgia 32 HP:0002829
3 fatigue 32 HP:0012378
4 headache 32 HP:0002315
5 vertigo 32 HP:0002321
6 abdominal pain 32 HP:0002027
7 thromboembolism 32 HP:0001907
8 venous thrombosis 32 HP:0004936
9 abnormal hemoglobin 32 HP:0011902
10 epistaxis 32 HP:0000421
11 cough 32 HP:0012735
12 exertional dyspnea 32 HP:0002875
13 polycythemia 32 HP:0001901

UMLS symptoms related to Primary Polycythemia:


dizziness, fatigue, headache, dyspnea on exertion

MGI Mouse Phenotypes related to Primary Polycythemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 EGLN1 EPO EPOR JAK2 SOCS3 VHL
2 embryo MP:0005380 9.88 VHL EGLN1 EPO EPOR JAK2 SOCS3
3 cardiovascular system MP:0005385 9.85 EGLN1 EPO EPOR SOCS3 VHL
4 hematopoietic system MP:0005397 9.85 EGLN1 EPO EPOR JAK2 SOCS3 VHL
5 immune system MP:0005387 9.8 EGLN1 EPO EPOR JAK2 SOCS3 VHL
6 integument MP:0010771 9.65 EGLN1 EPO JAK2 SOCS3 VHL
7 liver/biliary system MP:0005370 9.63 EGLN1 EPO EPOR JAK2 SOCS3 VHL
8 normal MP:0002873 9.35 EPO EPOR JAK2 SOCS3 VHL
9 skeleton MP:0005390 9.02 EGLN1 EPO JAK2 SOCS3 VHL

Drugs & Therapeutics for Primary Polycythemia

Drugs for Primary Polycythemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 289)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 4,Phase 1,Phase 2 59-66-5 1986
2 Anticonvulsants Phase 4,Phase 1,Phase 2
3 Carbonic Anhydrase Inhibitors Phase 4,Phase 1,Phase 2
4 diuretics Phase 4,Phase 1,Phase 2
5 Natriuretic Agents Phase 4,Phase 1,Phase 2
6 Hypoglycemic Agents Phase 4,Phase 2,Phase 3
7
Lactitol Phase 4 585-86-4 3871
8 insulin Phase 4
9 Insulin, Globin Zinc Phase 4
10
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
11
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1 55-98-1 2478
12
Carboplatin Approved Phase 2, Phase 3,Phase 1 41575-94-4 10339178 498142 38904
13
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1 50-18-0, 6055-19-2 2907
14
Fludarabine Approved Phase 2, Phase 3, Phase 1 21679-14-1, 75607-67-9 30751
15
Hydroxyurea Approved Phase 3,Phase 2,Phase 1 127-07-1 3657
16
Peginterferon alfa-2b Approved Phase 3,Phase 1,Phase 2 99210-65-8, 215647-85-1
17
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
18
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
19
Caspofungin Approved Phase 3,Phase 2 179463-17-3, 162808-62-0 468682 2826718
20
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
21
Ondansetron Approved Phase 3,Phase 1,Phase 2 99614-02-5 4595
22
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
23
Guaifenesin Approved, Vet_approved Phase 3 93-14-1 3516
24
Morphine Approved, Investigational Phase 3 57-27-2 5288826
25
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
26
Anagrelide Approved Phase 3,Phase 2 68475-42-3 2182
27
Aspirin Approved, Vet_approved Phase 3,Phase 2 50-78-2 2244
28
Peginterferon alfa-2a Approved, Investigational Phase 3,Phase 2,Phase 1 198153-51-4 5360545
29
Lenalidomide Approved Phase 3,Phase 2 191732-72-6 216326
30 Pomalidomide Approved Phase 3,Phase 1,Phase 2 19171-19-8
31
Etoposide Approved Phase 2, Phase 3,Phase 1 33419-42-0 36462
32
Melphalan Approved Phase 2, Phase 3, Phase 1 148-82-3 4053 460612
33
Thiotepa Approved Phase 2, Phase 3,Phase 1 52-24-4 5453
34
Benzocaine Approved Phase 3,Phase 1,Phase 2 1994-09-7, 94-09-7 2337
35
Iron Approved Phase 3,Phase 1,Phase 2 7439-89-6 23925
36
Cytarabine Approved, Investigational Phase 3,Phase 2,Phase 1 147-94-4 6253
37
Danazol Approved Phase 3,Phase 2 17230-88-5 28417
38
Methyltestosterone Approved Phase 3 58-18-4 6010
39
Testosterone Approved, Investigational Phase 3 58-22-0 6013
40
Ginseng Approved, Nutraceutical Phase 3 50647-08-0
41 tannic acid Approved, Nutraceutical Phase 3,Phase 1,Phase 2
42 Analgesics Phase 3,Phase 2,Phase 1
43 Anesthetics Phase 3
44 Anesthetics, Dissociative Phase 3
45 Anesthetics, General Phase 3
46 Anesthetics, Intravenous Phase 3
47 Central Nervous System Depressants Phase 3,Phase 1,Phase 2
48 Excitatory Amino Acid Antagonists Phase 3
49 Excitatory Amino Acids Phase 3
50 Neurotransmitter Agents Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 267)
id Name Status NCT ID Phase
1 Exploratory Phase II Study of INC424 Patients With Primary Myelofibrosis (PMF) or Post Polycythaemia Myelofibrosis (PPV MF) or Post Essential Thrombocythaemia Myelofibrosis (PET-MF) Completed NCT01558739 Phase 4
2 Treatment of High Altitude Polycythemia by Acetazolamide Completed NCT00424970 Phase 4
3 CINC424A2X01B Rollover Protocol Recruiting NCT02386800 Phase 4
4 INC424 for Patients With Myelofibrosis, Post Polycythemia Myelofibrosis or Post-essential Thrombocythemia Myelofibrosis No longer available NCT01493414 Phase 4
5 Glyburide Compared to Insulin in the Management of White's Classification A2 Gestational Diabetes Withdrawn NCT00160485 Phase 4
6 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3
7 Randomized Switch Study From Hydroxyurea to Ruxolitinib for RELIEF of Polycythemia Vera Symptoms: The Relief Study Completed NCT01632904 Phase 3
8 Pegylated Interferon Alpha-2b Versus Hydroxyurea in Polycythemia Vera Completed NCT01949805 Phase 3
9 Study to Assess the Self-administration of AOP2014 Using a Pen, Developed for the Treatment of Polycythemia Vera Patients Completed NCT02523638 Phase 3
10 A Clinical Study of Ruxolitinib in Patients With Primary Myelofibrosis (PM), Post-polycythemia Vera (PV) Myelofibrosis, or Post-essential Thrombocythemia (ET) Myelofibrosis Completed NCT02087059 Phase 3
11 COntrolled MyeloFibrosis Study With ORal JAK Inhibitor Treatment: The COMFORT-I Trial Completed NCT00952289 Phase 3
12 Controlled Myelofibrosis Study With Oral Janus-associated Kinase (JAK) Inhibitor Treatment-II: The COMFORT-II Trial Completed NCT00934544 Phase 3
13 Phase III Study of SAR302503 in Intermediate-2 and High Risk Patients With Myelofibrosis Completed NCT01437787 Phase 3
14 Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain Completed NCT00666211 Phase 3
15 Personalized Information or Basic Information in Helping Patients Make Decisions About Participating in a Clinical Trial Completed NCT00750009 Phase 3
16 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3
17 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3
18 Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment Completed NCT00008359 Phase 3
19 Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment Completed NCT00006348 Phase 3
20 St. John's Wort in Relieving Fatigue in Patients Undergoing Chemotherapy or Hormone Therapy for Cancer Completed NCT00005805 Phase 3
21 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3
22 Treatment for Chronic Pain in Patients With Advanced Cancer Completed NCT00003687 Phase 3
23 Metformin in Obese Non-diabetic Pregnant Women Completed NCT01273584 Phase 2, Phase 3
24 Expanded Treatment Protocol (ETP) of Ruxolitinib in Patients With Polycythemia Vera Who Are Hydroxyurea Resistant or Intolerant and for Whom no Treatment Alternatives Are Available. Recruiting NCT02292446 Phase 3
25 The Ruxo-BEAT Trial in Patients With High-risk Polycythemia Vera or High-risk Essential Thrombocythemia Recruiting NCT02577926 Phase 3
26 Randomized Trial of Pegylated Interferon Alfa-2a Versus Hydroxyurea in Polycythemia Vera (PV) and Essential Thrombocythemia (ET) Active, not recruiting NCT01259856 Phase 3
27 Ruxolitinib Efficacy and Safety in Patients With HU Resistant or Intolerant Polycythemia Vera vs Best Available Therapy. Active, not recruiting NCT02038036 Phase 3
28 AOP2014 vs. BAT in Patients With Polycythemia Vera Who Previously Participated in the PROUD-PV Study. Active, not recruiting NCT02218047 Phase 3
29 Study of Efficacy and Safety in Polycythemia Vera Subjects Who Are Resistant to or Intolerant of Hydroxyurea: JAK Inhibitor INC424 (INCB018424) Tablets Versus Best Available Care: (The RESPONSE Trial) Active, not recruiting NCT01243944 Phase 3
30 Efficacy of Momelotinib Versus Best Available Therapy in Anemic or Thrombocytopenic Subjects With Primary Myelofibrosis (MF), Post-polycythemia Vera MF, or Post-essential Thrombocythemia MF Active, not recruiting NCT02101268 Phase 3
31 Momelotinib Versus Ruxolitinib in Subjects With Myelofibrosis Active, not recruiting NCT01969838 Phase 3
32 A Study of Low Dose Interferon Alpha Versus Hydroxyurea in Treatment of Chronic Myeloid Neoplasms Active, not recruiting NCT01387763 Phase 3
33 Phase-3 Double-Blind, Placebo-Controlled Study of Pomalidomide in Persons With Myeloproliferative-Neoplasm-Associated Myelofibrosis and RBC-Transfusion-Dependence Myelofibrosis and RBC-Transfusion-Dependence Active, not recruiting NCT01178281 Phase 3
34 Combination Chemotherapy and Donor Stem Cell Transplant in Treating Patients With Aplastic Anemia or Hematologic Cancer Active, not recruiting NCT00003816 Phase 2, Phase 3
35 Large-scale Trial Testing the Intensity of CYTOreductive Therapy in Polycythemia Vera (PV) Terminated NCT01645124 Phase 3
36 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis With Thrombocytopenia Terminated NCT02055781 Phase 3
37 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis Terminated NCT01773187 Phase 3
38 H-36731: Finasteride in Management of Elevated Red Blood Cells Withdrawn NCT02548117 Phase 3
39 A Study of the Efficacy of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia Unknown status NCT00866762 Phase 2
40 CEP-701 (Lestaurtinib) in Myelofibrosis Unknown status NCT00668421 Phase 1, Phase 2
41 LBH589 (Panobinostat) for the Treatment of Myelofibrosis Unknown status NCT01298934 Phase 1, Phase 2
42 Phase II Study of GIVINOSTAT (ITF2357) in Combination With Hydroxyurea in Polycythemia Vera Completed NCT00928707 Phase 2
43 Dasatinib in Polycythemia Vera Completed NCT00538980 Phase 2
44 Efficacy and Safety of Pegylated Interferon Alfa in Polycythemia Vera Completed NCT00241241 Phase 2
45 Pegylated Interferon Alfa-2a Salvage Therapy in High Risk Polycythemia Vera (PV) or Essential Thrombocythemia (ET) Completed NCT01259817 Phase 2
46 Treatment of Polycythemia Vera With Gleevec Completed NCT01120821 Phase 2
47 Effects of Imatinib Mesylate in Polycythemia Vera Completed NCT00430066 Phase 2
48 Open Label Study to Evaluate the Activity of Imetelstat in Patients With Essential Thrombocythemia or Polycythemia Vera Completed NCT01243073 Phase 2
49 Open-Label Study of Oral CEP-701 (Lestaurtinib) in Patients With Polycythemia Vera or Essential Thrombocytosis Completed NCT00586651 Phase 2
50 Open Label Ruxolitinib (INCB018424) in Patients With Myelofibrosis and Post Polycythemia Vera/Essential Thrombocythemia Myelofibrosis Completed NCT00509899 Phase 1, Phase 2

Search NIH Clinical Center for Primary Polycythemia

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: polycythemia, primary familial and congenital

Genetic Tests for Primary Polycythemia

Genetic tests related to Primary Polycythemia:

id Genetic test Affiliating Genes
1 Familial Erythrocytosis 29

Anatomical Context for Primary Polycythemia

MalaCards organs/tissues related to Primary Polycythemia:

39
Lung, Heart, Brain, Myeloid

Publications for Primary Polycythemia

Articles related to Primary Polycythemia:

(show all 17)
id Title Authors Year
1
Identification of JAK2 mutations in canine primary polycythemia. ( 21320566 )
2011
2
Overexpression of SOCS-2 and SOCS-3 genes reverses erythroid overgrowth and IGF-I hypersensitivity of primary polycythemia vera (PV) cells. ( 17325857 )
2007
3
Polycythemia vera and other primary polycythemias. ( 15725900 )
2005
4
Isolated trochlear nerve palsy as a presenting feature of primary polycythemia rubra vera. ( 15180853 )
2004
5
Concomitant primary polycythemia vera and follicle center cell non-Hodgkin lymphoma: a case report and review of the literature. ( 12533050 )
2002
6
Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia. ( 9649565 )
1998
7
The erythropoietin receptor gene is not linked with the polycythemia phenotype in a family with autosomal dominant primary polycythemia. ( 9394420 )
1997
8
Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia. ( 8174675 )
1994
9
Diagnosis of canine primary polycythemia and management with hydroxyurea. ( 7061327 )
1982
10
Activity and intracellular localization of lysosomal acid phosphatase in lymphocytes from patients with Hodgkin's disease, plasma cell myeloma and primary polycythemia. ( 1025804 )
1976
11
N-acetyl-beta-glucosaminidase in lymphocytes of patients with Hodgkin's disease, plasma cell myeloma and primary polycythemia. ( 996426 )
1976
12
Daraprim in the treatment of primary polycythemia. ( 13716341 )
1960
13
Blood basophils in primary polycythemia. ( 14400719 )
1959
14
Radioactive phosphorus in the treatment of primary polycythemia (vera). ( 13359507 )
1956
15
Evaluation of radiophosphorus therapy in primary polycythemia. ( 14850278 )
1951
16
The therapeutic application of radioactive phosphorus with special reference to the treatment of primary polycythemia and chronic myeloid leukemia. ( 15407496 )
1949
17
Radiophosphorus as the treatment of choice in primary polycythemia. ( 20998219 )
1946

Variations for Primary Polycythemia

Expression for Primary Polycythemia

Search GEO for disease gene expression data for Primary Polycythemia.

Pathways for Primary Polycythemia

Pathways related to Primary Polycythemia according to GeneCards Suite gene sharing:

(show all 30)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 EPO EPOR IL3 JAK2 SOCS3
2
Show member pathways
13.19 EPO EPOR IL3 JAK2 SOCS3
3 12.29 EPO EPOR IL3 JAK2
4 12.28 IL3 JAK2 SOCS3
5
Show member pathways
11.76 EPO EPOR IL3 JAK2
6 11.67 EGLN1 EPO VHL
7 11.64 EPO EPOR IL3
8
Show member pathways
11.57 IL3 JAK2 SOCS3
9 11.49 JAK2 SOCS3
10 11.46 EGLN1 EPO
11 11.44 JAK2 SOCS3
12
Show member pathways
11.44 EPO EPOR JAK2 SOCS3
13
Show member pathways
11.4 JAK2 SOCS3
14 11.34 EGLN1 EPO VHL
15 11.33 JAK2 SOCS3
16 11.3 EPO IL3
17 11.3 EPO IL3
18
Show member pathways
11.26 EPO EPOR IL3 JAK2 SOCS3
19 11.24 JAK2 SOCS3
20
Show member pathways
11.22 EPO EPOR JAK2
21
Show member pathways
11.2 JAK2 SOCS3
22 11.2 JAK2 SOCS3
23 11.14 EGLN1 EPO
24 11.14 JAK2 SOCS3
25 11.08 EPO EPOR IL3 JAK2
26 11.03 EGLN1 EPO VHL
27
Show member pathways
11.02 JAK2 SOCS3
28
Show member pathways
11 JAK2 SOCS3
29 10.96 EPO EPOR
30 10.79 JAK2 SOCS3

GO Terms for Primary Polycythemia

Biological processes related to Primary Polycythemia according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.54 EGLN1 EPO VHL
2 negative regulation of JAK-STAT cascade GO:0046426 9.51 SOCS3 VHL
3 erythrocyte differentiation GO:0030218 9.49 EPO JAK2
4 positive regulation of DNA replication GO:0045740 9.48 EPO IL3
5 positive regulation of tyrosine phosphorylation of Stat3 protein GO:0042517 9.46 JAK2 SOCS3
6 JAK-STAT cascade GO:0007259 9.43 JAK2 SOCS3
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.43 EPO IL3 JAK2
8 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.4 JAK2 SOCS3
9 positive regulation of cell differentiation GO:0045597 9.33 JAK2 SOCS3 VHL
10 erythropoietin-mediated signaling pathway GO:0038162 9.32 EPO EPOR
11 cytokine-mediated signaling pathway GO:0019221 9.26 EPOR IL3 JAK2 SOCS3
12 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 8.8 EPO IL3 JAK2

Sources for Primary Polycythemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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