MCID: ESS003
MIFTS: 69

Essential Thrombocythemia

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

Aliases & Classifications for Essential Thrombocythemia

MalaCards integrated aliases for Essential Thrombocythemia:

Name: Essential Thrombocythemia 12 77 54 26 60 30 6 15 17
Essential Thrombocytosis 54 26 60 38
Hemorrhagic Thrombocythemia 12 54
Hereditary Thrombocythemia 12 60
Thrombocythemia, Essential 45 74
Familial Thrombocytosis 12 60
Primary Thrombocythemia 54 26
Primary Thrombocytosis 12 26
Essential Thrombocythaemia 12
Idiopathic Thrombocythemia 54
Thrombocythemia Essential 56
Familial Thrombocythemia 60
Et 60

Characteristics:

Orphanet epidemiological data:

60
essential thrombocythemia
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (United States),1-5/10000 (Sweden); Age of onset: All ages; Age of death: normal life expectancy;
familial thrombocytosis
Inheritance: Autosomal dominant,X-linked recessive; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:



Summaries for Essential Thrombocythemia

NIH Rare Diseases : 54 Essential thrombocythemia belongs to a group of diseases called myeloproliferative neoplasms, which cause the bone marrow to make too many platelets, white blood cells and/or red blood cells. In essential thrombocythemia, the body produces too many platelets. The signs and symptoms vary from person to person, but most people with essential thrombocythemia do not have any symptoms when the platelet cell count first increases. Signs and symptoms that develop as the disease progresses include:increased production of megakaryocytes (a type of cell in the bone marrow that is responsible for making platelets); enlargement of the spleen (splenomegaly); and bleeding in several parts of the body and/or clotting episodes such as strokes, pain in the legs and difficulty breathing. Other symptoms may include weakness, headaches, or a burning, tingling or prickling sensation in the skin. Some people have episodes of severe pain, redness, and swelling (especially in the hands and feet). Essential thrombocythemia may be caused by a person acquiring (not inheriting) a somatic mutation in any of several genes, such as the JAK2 gene (most frequently), CALR gene, and rarely, the MPL, THPO, or TET2 gene. The reason why some people acquire mutations that cause the disease is unknown. Treatment may include low-dose aspirin, hydroxyurea, anagrelide, and/or interferon-alpha. Most people with the disease can live long lives. In very rare cases, essential  thrombocythemia can transform into either primary myelofibrosis or acute myeloid leukemia.

MalaCards based summary : Essential Thrombocythemia, also known as essential thrombocytosis, is related to thrombocythemia 1 and thrombocytosis. An important gene associated with Essential Thrombocythemia is CALR (Calreticulin), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drugs Hydroxyurea and Anagrelide have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are myocardial infarction and abnormal bleeding

Disease Ontology : 12 A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results in the overproduction of platelets.

Genetics Home Reference : 26 Essential thrombocythemia is a condition characterized by an increased number of platelets (thrombocythemia). Platelets (thrombocytes) are blood cell fragments involved in blood clotting. While some people with this condition have no symptoms, others develop problems associated with the excess platelets.

Wikipedia : 77 Essential thrombocythemia (ET) is a rare chronic blood condition characterised by the overproduction of... more...

Related Diseases for Essential Thrombocythemia

Diseases in the Essential Thrombocythemia family:

Thrombocythemia 1 Thrombocythemia 2
Thrombocythemia 3

Diseases related to Essential Thrombocythemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 225)
# Related Disease Score Top Affiliating Genes
1 thrombocythemia 1 33.4 CALR MPL SH2B3 THPO
2 thrombocytosis 32.6 EPO IL3 JAK2 MPL SELP TET2
3 acquired von willebrand syndrome 32.6 JAK2 VWF
4 myeloproliferative neoplasm 32.6 ABL1 CALR JAK2 MPL SH2B3 STAT5B
5 thrombosis 31.9 JAK2 SELP THBD VWF
6 polycythemia 31.8 CALR CD177 EPO IL3 JAK2 MPL
7 polycythemia vera 31.2 ABL1 CALR CD177 EPO IFNA1 IL3
8 myeloid leukemia 31.1 ABL1 IL3 JAK2 TET2 TP53
9 myeloma, multiple 31.0 EPO IFNA1 JAK2 TP53
10 stroke, ischemic 30.8 PPBP SELP THBD VWF
11 purpura 30.7 MPL THBD THPO VWF
12 splenomegaly 30.7 EPO IFNA2 JAK2 MPL
13 thrombocytopenic purpura, autoimmune 30.7 IFNA2 MPL SELP THPO
14 portal hypertension 30.6 JAK2 THPO VWF
15 antiphospholipid syndrome 30.6 SELP THBD VWF
16 thrombocytopenia due to platelet alloimmunization 30.6 MPL SELP THPO
17 hairy cell leukemia 30.5 IFNA1 IFNA2 IL3
18 peripheral vascular disease 30.5 PPBP SELP THBD VWF
19 vascular disease 30.5 PPBP SELP THBD VWF
20 thrombotic thrombocytopenic purpura 30.5 SELP THBD VWF
21 chromosome 5q deletion syndrome 30.4 EPO TET2
22 myelofibrosis 30.3 ASXL1 CALR CD177 EPO IFNA1 IFNA2
23 vasculitis 30.3 IFNA2 THBD VWF
24 chronic myelomonocytic leukemia 30.3 ASXL1 JAK2 TET2
25 refractory anemia 30.3 ASXL1 EPO IL3 JAK2 MPL TET2
26 systemic mastocytosis 30.3 ASXL1 IFNA2 JAK2 TET2
27 megakaryocytic leukemia 30.2 IL3 JAK2 THPO TP53 VWF
28 myelodysplastic syndrome 30.1 ABL1 ASXL1 EPO IL3 JAK2 MPL
29 erythrocytosis, familial, 1 30.1 EPO IL3 JAK2 SH2B3 STAT5B THPO
30 leukemia, acute myeloid 30.0 ABL1 ASXL1 IL3 JAK2 MIR223 MPL
31 aplastic anemia 29.8 ASXL1 EPO IL3 MPL TET2 THPO
32 acute promyelocytic leukemia 29.8 IL3 MIR223 STAT5B THBD
33 leukemia, chronic myeloid 29.7 ABL1 CD177 EPO IFNA1 IFNA2 IL3
34 bone marrow cancer 29.0 ABL1 CALR CD177 EPO IFNA1 IFNA2
35 thrombocythemia with distal limb defects 11.2
36 leukemia 10.8
37 myocardial infarction 10.6
38 subacute myeloid leukemia 10.6 JAK2 TET2
39 unilateral absence of a pulmonary artery 10.5 THBD VWF
40 thrombocytopenia 3 10.5 MPL THPO
41 thrombocytopenia-absent radius syndrome 10.5 CALR JAK2 MPL THPO
42 lymphomatoid granulomatosis 10.5 IFNA1 IFNA2
43 squamous papillomatosis 10.5 IFNA1 IFNA2
44 grange syndrome 10.5 SELP THBD VWF
45 primary thrombocytopenia 10.5 MPL SELP THPO VWF
46 autoimmune disease of blood 10.5 MPL SELP THPO VWF
47 dyskeratosis congenita, autosomal dominant 6 10.4 MPL THPO
48 colloid adenoma 10.4 PPBP TP53
49 lymphocytic leukemia 10.4
50 folic acid deficiency anemia 10.4 EPO TET2 THPO

Graphical network of the top 20 diseases related to Essential Thrombocythemia:



Diseases related to Essential Thrombocythemia

Symptoms & Phenotypes for Essential Thrombocythemia

Human phenotypes related to Essential Thrombocythemia:

60 33 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myocardial infarction 60 33 hallmark (90%) Very frequent (99-80%) HP:0001658
2 abnormal bleeding 60 33 hallmark (90%) Very frequent (99-80%) HP:0001892
3 transient ischemic attack 60 33 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002326
4 venous thrombosis 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004936
5 paresthesia 60 33 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0003401
6 amaurosis fugax 60 33 hallmark (90%) Very frequent (99-80%) HP:0100576
7 thrombocytosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001894
8 chest pain 60 33 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0100749
9 prolonged bleeding time 60 33 hallmark (90%) Very frequent (99-80%) HP:0003010
10 abnormal platelet morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0011875
11 arterial thrombosis 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004420
12 increased megakaryocyte count 60 33 hallmark (90%) Very frequent (99-80%) HP:0005513
13 hyperhidrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000975
14 splenomegaly 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001744
15 pruritus 60 33 frequent (33%) Frequent (79-30%) HP:0000989
16 headache 60 33 frequent (33%) Frequent (79-30%) HP:0002315
17 peripheral arterial stenosis 33 frequent (33%) HP:0004950
18 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
19 dysarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001260
20 pulmonary arterial hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0002092
21 myelodysplasia 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002863
22 acute myeloid leukemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0004808
23 weight loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0001824
24 visual field defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001123
25 vertigo 60 33 occasional (7.5%) Occasional (29-5%) HP:0002321
26 acute leukemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002488
27 syncope 60 33 occasional (7.5%) Occasional (29-5%) HP:0001279
28 spontaneous abortion 60 33 occasional (7.5%) Occasional (29-5%) HP:0005268
29 myelofibrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0011974
30 chronic myelogenous leukemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0005506
31 cerebral ischemia 60 Frequent (79-30%)
32 abnormality of the cerebral vasculature 60 Very frequent (99-80%)
33 abnormality of thrombocytes 60 Very frequent (99-80%)
34 abnormality of bone marrow cell morphology 60 Very frequent (99-80%)
35 occlusive vascular disease 60 Frequent (79-30%)

MGI Mouse Phenotypes related to Essential Thrombocythemia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 ABL1 ASXL1 CALR EPO JAK2 MPL
2 hematopoietic system MP:0005397 10.17 ABL1 ASXL1 CD177 EPO JAK2 MPL
3 homeostasis/metabolism MP:0005376 10.03 ABL1 ASXL1 CALR EPO JAK2 MPL
4 immune system MP:0005387 10 ABL1 ASXL1 CD177 EPO JAK2 MPL
5 liver/biliary system MP:0005370 9.61 ABL1 ASXL1 EPO JAK2 SELP STAT5B
6 mortality/aging MP:0010768 9.4 ABL1 ASXL1 CALR EPO JAK2 MPL

Drugs & Therapeutics for Essential Thrombocythemia

Drugs for Essential Thrombocythemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 278)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxyurea Approved Phase 4,Phase 3,Phase 2,Not Applicable 127-07-1 3657
2
Anagrelide Approved Phase 4,Phase 3,Phase 2 68475-42-3 2182
3
tannic acid Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 1401-55-4
4
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
5
Lactitol Investigational Phase 4,Phase 2,Phase 3 585-88-6, 585-86-4 493591
6 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
7 Fibrinolytic Agents Phase 4,Phase 3,Phase 2,Not Applicable
8 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
9
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
10
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 55-98-1 2478
11
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
12
Carboplatin Approved Phase 2, Phase 3,Phase 1 41575-94-4 10339178 38904 498142
13
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
14
Aspirin Approved, Vet_approved Phase 3,Phase 2,Not Applicable 50-78-2 2244
15
Peginterferon alfa-2a Approved, Investigational Phase 3,Phase 2,Phase 1 198153-51-4 5360545
16
Pomalidomide Approved Phase 3,Phase 2,Phase 1 19171-19-8
17
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
18
Dalteparin Approved Phase 3 9005-49-6
19
Heparin Approved, Investigational Phase 3 9005-49-6 46507594 772
20
Ondansetron Approved Phase 3,Phase 1,Phase 2,Not Applicable 99614-02-5 4595
21
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
22
Amphotericin B Approved, Investigational Phase 3 1397-89-3 5280965 14956
23
Caspofungin Approved Phase 3,Phase 2 162808-62-0, 179463-17-3 2826718 468682
24
Guaifenesin Approved, Investigational, Vet_approved Phase 3,Not Applicable 93-14-1 3516
25
Dextromethorphan Approved Phase 3 125-71-3 5362449 5360696
26
Morphine Approved, Investigational Phase 3,Not Applicable 57-27-2 5288826
27
Etoposide Approved Phase 2, Phase 3,Phase 1 33419-42-0 36462
28
Thiotepa Approved, Investigational Phase 2, Phase 3,Phase 1 52-24-4 5453
29
Melphalan Approved Phase 2, Phase 3,Phase 3,Phase 1 148-82-3 460612 4053
30
Danazol Approved Phase 3,Phase 2 17230-88-5 28417
31
Cytarabine Approved, Experimental, Investigational Phase 3,Phase 2,Phase 1 147-94-4, 65-46-3 6253
32
Peginterferon alfa-2b Approved Phase 3 215647-85-1, 99210-65-8
33
Mercaptopurine Approved Phase 3 50-44-2 667490
34
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
35
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
36 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
37 Anesthetics Phase 3
38 Anesthetics, Dissociative Phase 3
39 Anesthetics, Intravenous Phase 3
40 Neurotransmitter Agents Phase 3,Phase 2,Not Applicable
41 Excitatory Amino Acid Antagonists Phase 3
42 Central Nervous System Depressants Phase 3,Phase 1,Phase 2,Not Applicable
43 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1,Not Applicable
44 Analgesics Phase 3,Phase 2,Phase 1,Not Applicable
45 Anesthetics, General Phase 3
46 Excitatory Amino Acids Phase 3
47 Anti-Infective Agents Phase 3,Phase 2,Phase 1,Not Applicable
48 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Not Applicable
49 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
50 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 253)
# Name Status NCT ID Phase Drugs
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 INC424
2 A Study of Anagrelide and Hydroxyurea in High-Risk Essential Thrombocythemia Patients Completed NCT00202644 Phase 4 Anagrelide;Hydroxyurea
3 Anagre Cap. in Patients With High-Risk Essential Thrombocythemia Recruiting NCT03232177 Phase 4 Anagre Cap.
4 CINC424A2X01B Rollover Protocol Recruiting NCT02386800 Phase 4 Ruxolitinib
5 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3 ketamine hydrochloride
6 Anagrelide Retard in Essential Thrombocythemia Completed NCT02076815 Phase 3 Anagrelide retard;Thromboreductin
7 Randomized Trial of Pegylated Interferon Alfa-2a Versus Hydroxyurea in Polycythemia Vera (PV) and Essential Thrombocythemia (ET) Completed NCT01259856 Phase 3 PEGASYS;Hydroxyurea;Aspirin
8 Anagrelide Retard vs. Placebo: Efficacy and Safety in "At-risk" Patients With Essential Thrombocythaemia Completed NCT01230775 Phase 3 Anagrelide retard;Placebo
9 Effect of SPD422 on Platelet Lowering and Safety in Japanese Adults With At Risk Essential Thrombocythaemia Completed NCT01214915 Phase 3 Anagrelide Hydrochloride
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 Ruxolitinib
11 Anagrelide vs. Hydroxyurea - Efficacy and Tolerability Study in Patients With Essential Thrombocythaemia Completed NCT01065038 Phase 3 Anagrelide;Hydroxyurea
12 Long-term Safety of SPD422 in Japanese Adults With Essential Thrombocythaemia Completed NCT01467661 Phase 3 SPD422 (anagrelide hydrochloride)
13 INC424 for Patients With Primary Myelofibrosis, Post Polycythemia Myelofibrosis or Post-essential Thrombocythemia Myelofibrosis. Completed NCT01493414 Phase 3 INC424
14 COntrolled MyeloFibrosis Study With ORal JAK Inhibitor Treatment: The COMFORT-I Trial Completed NCT00952289 Phase 3 Ruxolitinib;Placebo
15 Controlled Myelofibrosis Study With Oral Janus-associated Kinase (JAK) Inhibitor Treatment-II: The COMFORT-II Trial Completed NCT00934544 Phase 3 INC424/INCB018424;Best Available Therapy (BAT)
16 Phase III Study of SAR302503 in Intermediate-2 and High Risk Patients With Myelofibrosis Completed NCT01437787 Phase 3 SAR302503;Placebo
17 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 Completed NCT01178281 Phase 3 Pomalidomide 0.5 mg;Placebo
18 Personalized Information or Basic Information in Helping Patients Make Decisions About Participating in a Clinical Trial Completed NCT00750009 Phase 3
19 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3 American ginseng
20 Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain Completed NCT00666211 Phase 3
21 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
22 St. John's Wort in Relieving Fatigue in Patients Undergoing Chemotherapy or Hormone Therapy for Cancer Completed NCT00005805 Phase 3
23 Dalteparin to Prevent Complications in Cancer Patients Receiving Chemotherapy Through a Catheter Completed NCT00006083 Phase 3 Fragmin
24 Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment Completed NCT00006348 Phase 3 ondansetron
25 Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment Completed NCT00008359 Phase 3 caspofungin acetate;liposomal amphotericin B
26 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3 liposomal amphotericin B
27 Treatment for Chronic Pain in Patients With Advanced Cancer Completed NCT00003687 Phase 3 dextromethorphan hydrobromide;morphine sulfate
28 Hydroxyurea Versus Aspirin and Hydroxyurea in Essential Thrombocythemia Recruiting NCT02611973 Phase 3 Hydroxyurea treatment (HU)
29 An Efficacy and Safety Trial of Fedratinib in Subjects With DIPSS, Intermediate or High-Risk Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis and Previously Treated With Ruxolitinib Recruiting NCT03755518 Phase 3 FEDRATINIB
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 Momelotinib;Best Available Therapy (BAT)
31 The Ruxolitinib Versus Best Available Therapy Trial in Patients With High Risk ET in Second Line Active, not recruiting NCT02962388 Phase 2, Phase 3 Anagrelide;Ruxolitinib (JAKAVI®);IFNα/ PegIFNα
32 Momelotinib Versus Ruxolitinib in Subjects With Myelofibrosis Active, not recruiting NCT01969838 Phase 3 Momelotinib;Ruxolitinib;Placebo to match momelotinib;Placebo to match ruxolitinib
33 A Study of Low Dose Interferon Alpha Versus Hydroxyurea in Treatment of Chronic Myeloid Neoplasms Active, not recruiting NCT01387763 Phase 3 PegIntron;Pegasys;PegIntron;Pegasys;Hydrea
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 busulfan;carboplatin;cyclophosphamide;etoposide;fludarabine phosphate;melphalan;thiotepa
35 An Efficacy and Safety Study of Fedratinib Compared to Best Available Therapy in Subjects With DIPSS-intermediate or High-risk Primary Myelofibrosis, Post-polycythemia Vera Myelofibrosis, or Post-essential Thrombocythemia Myelofibrosis and Previously Treated With Ruxolitinib Not yet recruiting NCT03952039 Phase 3 FEDRATINIB;Best Available Therapy (BAT)
36 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis With Thrombocytopenia Terminated NCT02055781 Phase 3 Pacritinib;Best Available Therapy
37 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis Terminated NCT01773187 Phase 3 Pacritinib;Best Available Therapy
38 A Study of the Efficacy of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia Unknown status NCT00866762 Phase 2 HDAC inhibitor (MK-0683)
39 LBH589 (Panobinostat) for the Treatment of Myelofibrosis Unknown status NCT01298934 Phase 1, Phase 2 LBH589
40 CEP-701 (Lestaurtinib) in Myelofibrosis Unknown status NCT00668421 Phase 1, Phase 2 CEP-701 (Lestaurtinib)
41 Pegylated Interferon Alfa-2a Salvage Therapy in High Risk Polycythemia Vera (PV) or Essential Thrombocythemia (ET) Completed NCT01259817 Phase 2 PEGASYS;Aspirin
42 Study to Determine the Safety and Efficacy of Ruxolitinib (INCB018424) in Patients With Polycythemia Vera or Essential Thrombocythemia Completed NCT00726232 Phase 2 Ruxolitinib
43 Long-term Safety and Efficacy of Momelotinib in Subjects With Primary Myelofibrosis, Post-polycythemia Vera Myelofibrosis, Post-essential Thrombocythemia Myelofibrosis, Polycythemia Vera or Essential Thrombocythemia Completed NCT02124746 Phase 2 Momelotinib
44 The Pharmacokinetics of Anagrelide in Elderly and Young Patients With Essential Thrombocythaemia (ET) Completed NCT00413634 Phase 2 anagrelide hydrochloride
45 Safety Study Evaluating Twice-Daily Administration of Momelotinib in Primary Myelofibrosis or Post-Polycythemia Vera or Post-Essential Thrombocythemia Myelofibrosis Completed NCT01423058 Phase 1, Phase 2 Momelotinib
46 Open Label Study to Evaluate the Activity of Imetelstat in Patients With Essential Thrombocythemia or Polycythemia Vera Completed NCT01243073 Phase 2 Imetelstat
47 Extension Study Evaluating the Long Term Safety and Efficacy Study of CYT387 in Primary Myelofibrosis (PMF) or Post-polycythemia Vera (PV) or Post-essential Thrombocythemia (ET) Completed NCT01236638 Phase 2 Momelotinib
48 Safety and Efficacy Study of CYT387 in Primary Myelofibrosis (PMF) or Post-polycythemia Vera (PV) or Post-essential Thrombocythemia (ET) Completed NCT00935987 Phase 1, Phase 2 CYT387
49 Efficacy and Safety of Simtuzumab in Adults With Primary, Post Polycythemia Vera or Post Essential Thrombocythemia Myelofibrosis Completed NCT01369498 Phase 2 Simtuzumab;Ruxolitinib
50 Open Label Ruxolitinib (INCB018424) in Patients With Myelofibrosis and Post Polycythemia Vera/Essential Thrombocythemia Myelofibrosis Completed NCT00509899 Phase 1, Phase 2 Ruxolitinib

Search NIH Clinical Center for Essential Thrombocythemia

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: thrombocythemia, essential

Genetic Tests for Essential Thrombocythemia

Genetic tests related to Essential Thrombocythemia:

# Genetic test Affiliating Genes
1 Essential Thrombocythemia 30 CALR SH2B3 THPO

Anatomical Context for Essential Thrombocythemia

MalaCards organs/tissues related to Essential Thrombocythemia:

42
Bone, Bone Marrow, Myeloid, Skin, Spleen, Liver, Heart

Publications for Essential Thrombocythemia

Articles related to Essential Thrombocythemia:

(show top 50) (show all 1490)
# Title Authors Year
1
Fulminant Essential Thrombocythemia Associated with Acquired Von Willebrand Syndrome and Bleeding Episodes in a 14-year-old Girl. ( 30895567 )
2019
2
In-stent Massive Thrombi Formation During Primary Percutaneous Coronary Intervention in a Patient with Acute Myocardial Infarction Complicated with Essential Thrombocythemia. ( 30626836 )
2019
3
Aortic valve replacement with essential thrombocythemia. ( 29984585 )
2019
4
Composite chronic myeloid leukemia and essential thrombocythemia with BCR-ABL1 fusion and CALR mutation. ( 30105753 )
2019
5
Decreased survival and increased rate of fibrotic progression in essential thrombocythemia chronicled after the FDA approval date of anagrelide. ( 30252953 )
2019
6
Polycythemia vera and essential thrombocythemia: 2019 update on diagnosis, risk-stratification and management. ( 30281843 )
2019
7
Positive impact of molecular analysis on prognostic scores in essential thrombocythemia: a single center prospective cohort experience. ( 30337359 )
2019
8
Isolated gastric varices in a patient with essential thrombocythemia. ( 30359570 )
2019
9
Increased risk of heparin induced thrombocytopenia and thrombosis in patients with essential thrombocythemia carrying the homozygous JAK2 V617F mutation. ( 30478722 )
2019
10
Does hydroxycarbamide therapy really induce leukemic transformation in patients with essential thrombocythemia? ( 30501902 )
2019
11
Mutation patterns in essential thrombocythemia, polycythemia vera and secondary myelofibrosis. ( 30601073 )
2019
12
A Case of Chronic Myelogenous Leukemia Occurring in a Patient Treated for Essential Thrombocythemia. ( 30602717 )
2019
13
The authors' reply to "Bone marrow biopsy is mandatory for a diagnosis of essential thrombocythemia". ( 30626803 )
2019
14
A Bone Marrow Biopsy is Mandatory for a Diagnosis of Essential Thrombocythemia. ( 30626808 )
2019
15
The S505A thrombopoietin receptor mutation in childhood hereditary thrombocytosis and essential thrombocythemia is S505N: single letter amino acid code matters. ( 30635630 )
2019
16
Characteristics and outcomes of patients with essential thrombocythemia or polycythemia vera diagnosed before 20 years of age, a systematic review. ( 30679326 )
2019
17
Radiological features and outcomes of essential thrombocythemia-related stroke. ( 30710863 )
2019
18
Activation of TF-Dependent Blood Coagulation Pathway and VEGF-A in Patients with Essential Thrombocythemia. ( 30781507 )
2019
19
Developments in diagnosis and treatment of essential thrombocythemia. ( 30793984 )
2019
20
Impact of Hydroxyurea on Survival and Risk of Thrombosis Among Older Patients With Essential Thrombocythemia. ( 30865915 )
2019
21
GATA-1: A potential novel biomarker for the differentiation of essential thrombocythemia and myelofibrosis. ( 30889303 )
2019
22
Evaluation of platelet function in essential thrombocythemia under different analytical conditions. ( 30892978 )
2019
23
Contemporary management of essential thrombocythemia in children. ( 30925843 )
2019
24
Comparison of Dynamic International Prognostic Scoring System and MYelofibrosis SECondary to PV and ET Prognostic Model for Prediction of Outcome in Polycythemia Vera and Essential Thrombocythemia Myelofibrosis after Allogeneic Stem Cell Transplantation. ( 30930192 )
2019
25
Coexistence of Hermansky-Pudlak syndrome and JAK2V617F-positive essential thrombocythemia. ( 30932722 )
2019
26
Distinguishing essential thrombocythemia JAK2V617F from polycythemia vera: limitations of erythrocyte values. ( 30948488 )
2019
27
Mean Platelet Volume and Platelet Distribution Width Indicate that Platelets Remain Small for Most of Their Lifespans in Patients with Essential Thrombocythemia. ( 30969082 )
2019
28
When nucleated RBCs "count" in the peripheral blood: a unique case of post-essential thrombocythemia myelofibrosis. ( 30975644 )
2019
29
Clinical and molecular features of patients with prefibrotic primary myelofibrosis previously diagnosed as having essential thrombocythemia in Japan. ( 30977935 )
2019
30
MPL Y252H anMd PL F126fs mutations in essential thrombocythemia: Case series and review of literature. ( 30996850 )
2019
31
Essential Thrombocythemia Complicated by Occlusive Thrombosis of the Abdominal Aorta. ( 31049234 )
2019
32
Specific mechanisms of subarachnoid hemorrhage accompanied by ischemic stroke in essential thrombocythemia: two case reports and a literature review. ( 31049728 )
2019
33
Emerging drugs for essential thrombocythemia. ( 31050912 )
2019
34
Efficacy and safety of anagrelide as a first-line drug in cytoreductive treatment-naïve essential thrombocythemia patients in a real-world setting. ( 31107982 )
2019
35
Mastocytosis With Associated Essential Thrombocythemia. ( 29566880 )
2019
36
The role of hepcidin, GDF15, and mitoferrin-1 in iron metabolism of polycythemia vera and essential thrombocytosis patients ( 30761871 )
2019
37
Once- versus twice-daily aspirin treatment in patients with essential thrombocytosis. ( 29442537 )
2019
38
Pulmonary Artery Catheter Thrombus in a Patient With Essential Thrombocytosis: A Case Report. ( 30312177 )
2019
39
Therapeutic thrombocytapheresis for extreme thrombocytosis after chemotherapy in essential thrombocytosis. ( 30624802 )
2019
40
Acute ST-segment Elevation Myocardial Infarction as the First Manifestation of Essential Thrombocytosis. ( 31011495 )
2019
41
The course of acquired von Willebrand syndrome during pregnancy among patients with essential thrombocytosis. ( 29654448 )
2018
42
Phenotype variability of patients with post polycythemia vera and post essential thrombocythemia myelofibrosis is associated with the time to progression from polycythemia vera and essential thrombocythemia. ( 29734070 )
2018
43
Antiplatelet use in patients with essential thrombocythemia: A survey of opinion and Canadian practice. ( 29751169 )
2018
44
The Aspirin Regimens in Essential Thrombocythemia (ARES) phase II randomized trial design: Implementation of the serum thromboxane B2 assay as an evaluation tool of different aspirin dosing regimens in the clinical setting. ( 29880847 )
2018
45
Long-term and low-dose of busulfan is a safe and effective second-line treatment in elderly patients with essential thrombocythemia resistant or intolerant to hydroxyurea. ( 29891835 )
2018
46
Cardiac Surgery Using Hypothermic Circulatory Arrest in a Case of Essential Thrombocythemia. ( 29925725 )
2018
47
Anagrelide and the CALR mutation allele burden in essential thrombocythemia. ( 29949532 )
2018
48
Essential Thrombocythemia Presenting as Paraneoplastic Glomerulonephritis. ( 29962681 )
2018
49
Validation of previous prognostic models for thrombosis and exploration of modified models in patients with essential thrombocythemia. ( 29971894 )
2018
50
Essential thrombocythemia during treatment of acute myeloid leukemia with JAK2 V617F mutation: A case report of a CARE-compliant article. ( 29979407 )
2018

Variations for Essential Thrombocythemia

ClinVar genetic disease variations for Essential Thrombocythemia:

6 (show top 50) (show all 179)
# Gene Variation Type Significance SNP ID Assembly Location
1 THPO THPO, IVS3, G-C, +1 single nucleotide variant Pathogenic
2 THPO THPO, 1-BP DEL, 3252G deletion Pathogenic
3 THPO THPO, 516G-T single nucleotide variant Pathogenic
4 MPL NM_005373.2(MPL): c.117G> T (p.Lys39Asn) single nucleotide variant risk factor rs17292650 GRCh37 Chromosome 1, 43803807: 43803807
5 MPL NM_005373.2(MPL): c.117G> T (p.Lys39Asn) single nucleotide variant risk factor rs17292650 GRCh38 Chromosome 1, 43338136: 43338136
6 MPL NM_005373.2(MPL): c.1514G> A (p.Ser505Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121913614 GRCh37 Chromosome 1, 43814979: 43814979
7 MPL NM_005373.2(MPL): c.1514G> A (p.Ser505Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121913614 GRCh38 Chromosome 1, 43349308: 43349308
8 SH2B3 NM_005475.2(SH2B3): c.622G> C (p.Glu208Gln) single nucleotide variant Pathogenic rs202080221 GRCh37 Chromosome 12, 111856571: 111856571
9 SH2B3 NM_005475.2(SH2B3): c.622G> C (p.Glu208Gln) single nucleotide variant Pathogenic rs202080221 GRCh38 Chromosome 12, 111418767: 111418767
10 CALR NM_004343.3(CALR): c.1092_1143del52 (p.Leu367Thrfs) deletion Pathogenic rs1555760738 GRCh37 Chromosome 19, 13054565: 13054616
11 CALR NM_004343.3(CALR): c.1092_1143del52 (p.Leu367Thrfs) deletion Pathogenic rs1555760738 GRCh38 Chromosome 19, 12943751: 12943802
12 MPL NM_005373.2(MPL): c.340G> A (p.Val114Met) single nucleotide variant Benign/Likely benign rs12731981 GRCh38 Chromosome 1, 43338669: 43338669
13 MPL NM_005373.2(MPL): c.340G> A (p.Val114Met) single nucleotide variant Benign/Likely benign rs12731981 GRCh37 Chromosome 1, 43804340: 43804340
14 MPL NM_005373.2(MPL): c.690A> G (p.Glu230=) single nucleotide variant Benign rs16830693 GRCh38 Chromosome 1, 43339569: 43339569
15 MPL NM_005373.2(MPL): c.690A> G (p.Glu230=) single nucleotide variant Benign rs16830693 GRCh37 Chromosome 1, 43805240: 43805240
16 MPL NM_005373.2(MPL): c.962G> A (p.Arg321Gln) single nucleotide variant Benign/Likely benign rs149265851 GRCh37 Chromosome 1, 43806166: 43806166
17 MPL NM_005373.2(MPL): c.962G> A (p.Arg321Gln) single nucleotide variant Benign/Likely benign rs149265851 GRCh38 Chromosome 1, 43340495: 43340495
18 MPL NM_005373.2(MPL): c.1120A> G (p.Thr374Ala) single nucleotide variant Benign/Likely benign rs190983971 GRCh37 Chromosome 1, 43812255: 43812255
19 MPL NM_005373.2(MPL): c.1120A> G (p.Thr374Ala) single nucleotide variant Benign/Likely benign rs190983971 GRCh38 Chromosome 1, 43346584: 43346584
20 MPL NM_005373.2(MPL): c.1102G> T (p.Val368Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149810307 GRCh37 Chromosome 1, 43812237: 43812237
21 MPL NM_005373.2(MPL): c.1102G> T (p.Val368Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149810307 GRCh38 Chromosome 1, 43346566: 43346566
22 MPL NM_005373.2(MPL): c.1565+5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs41269541 GRCh38 Chromosome 1, 43349364: 43349364
23 MPL NM_005373.2(MPL): c.1565+5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs41269541 GRCh37 Chromosome 1, 43815035: 43815035
24 ATG2B; BDKRB1; BDKRB2; C14orf132; GSKIP; LOC107984703; TCL1A; TUNAR NC_000014.9: g.95696766_96390792dup duplication Likely pathogenic GRCh37 Chromosome 14, 96163103: 96857129
25 ATG2B; BDKRB1; BDKRB2; C14orf132; GSKIP; LOC107984703; TCL1A; TUNAR NC_000014.9: g.95696766_96390792dup duplication Likely pathogenic GRCh38 Chromosome 14, 95696766: 96390792
26 MPL NM_005373.2(MPL): c.210G> A (p.Pro70=) single nucleotide variant Likely benign rs6086 GRCh37 Chromosome 1, 43803900: 43803900
27 MPL NM_005373.2(MPL): c.210G> A (p.Pro70=) single nucleotide variant Likely benign rs6086 GRCh38 Chromosome 1, 43338229: 43338229
28 MPL NM_005373.2(MPL): c.92T> C (p.Leu31Pro) single nucleotide variant Uncertain significance rs878854771 GRCh38 Chromosome 1, 43338111: 43338111
29 MPL NM_005373.2(MPL): c.92T> C (p.Leu31Pro) single nucleotide variant Uncertain significance rs878854771 GRCh37 Chromosome 1, 43803782: 43803782
30 MPL NM_005373.2(MPL): c.844G> A (p.Gly282Arg) single nucleotide variant Uncertain significance rs878854770 GRCh37 Chromosome 1, 43805788: 43805788
31 MPL NM_005373.2(MPL): c.844G> A (p.Gly282Arg) single nucleotide variant Uncertain significance rs878854770 GRCh38 Chromosome 1, 43340117: 43340117
32 MPL NM_005373.2(MPL): c.1309-10C> T single nucleotide variant Benign/Likely benign rs139486615 GRCh37 Chromosome 1, 43814504: 43814504
33 MPL NM_005373.2(MPL): c.1309-10C> T single nucleotide variant Benign/Likely benign rs139486615 GRCh38 Chromosome 1, 43348833: 43348833
34 MPL NM_005373.2(MPL): c.1653+3G> A single nucleotide variant Benign/Likely benign rs149625825 GRCh37 Chromosome 1, 43817977: 43817977
35 MPL NM_005373.2(MPL): c.1653+3G> A single nucleotide variant Benign/Likely benign rs149625825 GRCh38 Chromosome 1, 43352306: 43352306
36 MPL NM_005373.2(MPL): c.1794C> T (p.Cys598=) single nucleotide variant Benign/Likely benign rs143457144 GRCh38 Chromosome 1, 43352658: 43352658
37 MPL NM_005373.2(MPL): c.1794C> T (p.Cys598=) single nucleotide variant Benign/Likely benign rs143457144 GRCh37 Chromosome 1, 43818329: 43818329
38 THPO NM_000460.4(THPO): c.1030A> G (p.Thr344Ala) single nucleotide variant Benign/Likely benign rs35794435 GRCh38 Chromosome 3, 184372545: 184372545
39 THPO NM_000460.4(THPO): c.1030A> G (p.Thr344Ala) single nucleotide variant Benign/Likely benign rs35794435 GRCh37 Chromosome 3, 184090333: 184090333
40 THPO NM_000460.4(THPO): c.229-17_229-14dup duplication Benign/Likely benign rs55827759 GRCh38 Chromosome 3, 184373596: 184373599
41 THPO NM_000460.4(THPO): c.229-17_229-14dup duplication Benign/Likely benign rs55827759 GRCh37 Chromosome 3, 184091384: 184091387
42 THPO NM_000460.4(THPO): c.*18G> A single nucleotide variant Uncertain significance rs180680111 GRCh37 Chromosome 3, 184090283: 184090283
43 THPO NM_000460.4(THPO): c.*18G> A single nucleotide variant Uncertain significance rs180680111 GRCh38 Chromosome 3, 184372495: 184372495
44 MPL NM_005373.2(MPL): c.196C> T (p.Leu66=) single nucleotide variant Uncertain significance rs886046349 GRCh38 Chromosome 1, 43338215: 43338215
45 MPL NM_005373.2(MPL): c.196C> T (p.Leu66=) single nucleotide variant Uncertain significance rs886046349 GRCh37 Chromosome 1, 43803886: 43803886
46 MPL NM_005373.2(MPL): c.543T> C (p.Gly181=) single nucleotide variant Benign/Likely benign rs17572791 GRCh38 Chromosome 1, 43339422: 43339422
47 MPL NM_005373.2(MPL): c.543T> C (p.Gly181=) single nucleotide variant Benign/Likely benign rs17572791 GRCh37 Chromosome 1, 43805093: 43805093
48 MPL NM_005373.2(MPL): c.1051C> T (p.Arg351Cys) single nucleotide variant Uncertain significance rs201998783 GRCh38 Chromosome 1, 43346515: 43346515
49 MPL NM_005373.2(MPL): c.1051C> T (p.Arg351Cys) single nucleotide variant Uncertain significance rs201998783 GRCh37 Chromosome 1, 43812186: 43812186
50 MPL NM_005373.2(MPL): c.1337G> A (p.Gly446Glu) single nucleotide variant Uncertain significance rs561724539 GRCh38 Chromosome 1, 43348871: 43348871

Expression for Essential Thrombocythemia

Search GEO for disease gene expression data for Essential Thrombocythemia.

Pathways for Essential Thrombocythemia

Pathways related to Essential Thrombocythemia according to GeneCards Suite gene sharing:

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.94 ABL1 CALR CD177 IFNA1 IFNA2 IL3
2
Show member pathways
13.56 EPO IFNA1 IFNA2 IL3 JAK2 MPL
3
Show member pathways
13.39 EPO IFNA1 IFNA2 IL3 JAK2 MPL
4
Show member pathways
13.25 IFNA1 IFNA2 IL3 JAK2 STAT5B TP53
5
Show member pathways
12.86 CALR IFNA1 IFNA2 JAK2 STAT5B TP53
6
Show member pathways
12.86 EPO IFNA1 IFNA2 IL3 JAK2 TP53
7 12.69 ABL1 EPO IFNA1 IFNA2 IL3 JAK2
8
Show member pathways
12.55 ABL1 CD177 IFNA1 IFNA2 IL3 JAK2
9 12.47 IFNA1 IL3 JAK2 MPL STAT5B
10
Show member pathways
12.19 IFNA1 IFNA2 JAK2 STAT5B
11
Show member pathways
12.16 ABL1 IFNA1 IFNA2 IL3 PPBP THPO
12
Show member pathways
12.11 IFNA1 IFNA2 JAK2 STAT5B
13
Show member pathways
12.04 EPO IL3 JAK2 SH2B3 STAT5B
14 11.99 ABL1 IFNA1 IFNA2 JAK2 SH2B3 TP53
15
Show member pathways
11.97 ABL1 EPO IFNA1 IFNA2 IL3 JAK2
16 11.81 JAK2 MPL STAT5B THPO
17 11.8 JAK2 STAT5B THBD
18 11.8 EPO IFNA2 IL3 MPL SH2B3 THPO
19
Show member pathways
11.79 MPL THPO VWF
20 11.78 EPO IL3 THPO
21
Show member pathways
11.78 EPO JAK2 SH2B3 STAT5B
22 11.64 ABL1 EPO IFNA1 IFNA2 IL3 JAK2
23 11.55 JAK2 SELP STAT5B
24 11.21 JAK2 MPL STAT5B THPO
25 11.2 ABL1 JAK2 TP53
26
Show member pathways
11.15 JAK2 SELP STAT5B

GO Terms for Essential Thrombocythemia

Cellular components related to Essential Thrombocythemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.61 CALR CD177 EPO IFNA1 IFNA2 IL3
2 extracellular space GO:0005615 9.32 CALR EPO IFNA1 IFNA2 IL3 MIR223

Biological processes related to Essential Thrombocythemia according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.88 CALR EPO IL3 JAK2 STAT5B THPO
2 regulation of signaling receptor activity GO:0010469 9.8 EPO IFNA1 IFNA2 IL3 PPBP THPO
3 response to lipopolysaccharide GO:0032496 9.76 EPO JAK2 SELP THBD
4 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.56 ABL1 IL3 JAK2 TP53
5 B cell proliferation GO:0042100 9.54 ABL1 IFNA1 IFNA2
6 embryonic hemopoiesis GO:0035162 9.52 IL3 SH2B3
7 negative regulation of cell-cell adhesion GO:0022408 9.51 ABL1 JAK2
8 cytokine-mediated signaling pathway GO:0019221 9.5 IFNA1 IFNA2 IL3 JAK2 MPL STAT5B
9 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.49 JAK2 STAT5B
10 peptidyl-tyrosine phosphorylation GO:0018108 9.48 ABL1 JAK2
11 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.46 EPO IFNA2 IL3 JAK2
12 thrombopoietin-mediated signaling pathway GO:0038163 9.43 MPL THPO
13 blood coagulation GO:0007596 9.17 CD177 IFNA1 IFNA2 JAK2 SH2B3 THBD

Molecular functions related to Essential Thrombocythemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chaperone binding GO:0051087 9.43 CALR TP53 VWF
2 protease binding GO:0002020 9.33 CD177 TP53 VWF
3 type I interferon receptor binding GO:0005132 9.32 IFNA1 IFNA2
4 cytokine activity GO:0005125 9.1 EPO IFNA1 IFNA2 IL3 PPBP THPO
5 protein tyrosine kinase activity GO:0004713 8.96 ABL1 JAK2

Sources for Essential Thrombocythemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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