ET
MCID: ESS003
MIFTS: 71

Essential Thrombocythemia (ET)

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 76 53 25 59 29 6 15
Essential Thrombocytosis 53 25 59 37
Hemorrhagic Thrombocythemia 12 53
Hereditary Thrombocythemia 12 59
Thrombocythemia, Essential 44 73
Familial Thrombocytosis 12 59
Primary Thrombocythemia 53 25
Primary Thrombocytosis 12 25
Essential Thrombocythaemia 12
Idiopathic Thrombocythemia 53
Thrombocythemia Essential 55
Familial Thrombocythemia 59
Et 59

Characteristics:

Orphanet epidemiological data:

59
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 : 53 Essential thrombocythemia belongs to a group of conditions called myeloproliferative disorders. Myeloproliferative disorders cause platelets, white blood cells and red blood cells to grow abnormally in the bone marrow (the soft tissue inside the hollow part of bones that helps form blood cells). In essential thrombocythemia, the body produces too many platelet cells. 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. The main signs and symptoms 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 burning, tingling or prickling sensations in the skin. Some people have episodes of severe pain, redness, and swelling, especially in the hands and feet. Essential thrombocythemia is caused by mutations in the JAK2 (most frequently) and CALR genes, and rarely, the disease is caused by mutations in the MPL, THPO, and TET2 genes.  Treatment may include medication such as hydroxyurea, anagrelide, 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 THPO (Thrombopoietin), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drugs Anagrelide and Hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are hyperhidrosis and seizures

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 : 25 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 : 76 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 207)
# Related Disease Score Top Affiliating Genes
1 thrombocythemia 1 33.1 CALR MPL SH2B3 THPO
2 thrombocytosis 32.5 EPO IL3 JAK2 MPL SELP TET2
3 acquired von willebrand syndrome 32.5 JAK2 VWF
4 myeloproliferative neoplasm 32.4 ABL1 CALR JAK2 MPL SH2B3 STAT5B
5 polycythemia 31.7 CALR CD177 EPO IL3 JAK2 MPL
6 thrombosis 31.6 JAK2 SELP THBD VWF
7 polycythemia vera 31.3 ABL1 CALR CD177 EPO IFNA1 IL3
8 myeloid leukemia 31.0 ABL1 IL3 JAK2 TET2 TP53
9 myeloma, multiple 30.8 EPO IFNA1 JAK2 TP53
10 myelofibrosis 30.7 ASXL1 CALR CD177 EPO IFNA1 IFNA2
11 splenomegaly 30.5 EPO IFNA2 JAK2 MPL
12 purpura 30.5 MPL THBD THPO VWF
13 thrombocytopenic purpura, autoimmune 30.4 IFNA2 MPL SELP THPO
14 stroke, ischemic 30.4 PPBP SELP THBD VWF
15 portal hypertension 30.3 JAK2 THPO VWF
16 hairy cell leukemia 30.3 IFNA1 IFNA2 IL3
17 peripheral vascular disease 30.3 PPBP SELP THBD VWF
18 vascular disease 30.3 PPBP SELP THBD VWF
19 thrombocytopenia due to platelet alloimmunization 30.3 MPL SELP THPO
20 refractory anemia 30.2 ASXL1 EPO IL3 JAK2 MPL TET2
21 thrombotic thrombocytopenic purpura 30.2 SELP THBD VWF
22 leukemia, acute myeloid 30.2 ABL1 ASXL1 IL3 JAK2 MIR223 MPL
23 chromosome 5q deletion syndrome 30.2 EPO TET2
24 chronic myelomonocytic leukemia 30.1 ASXL1 JAK2 TET2
25 vasculitis 30.1 IFNA2 THBD VWF
26 systemic mastocytosis 30.1 ASXL1 IFNA2 JAK2 TET2
27 megakaryocytic leukemia 30.1 IL3 JAK2 THPO TP53 VWF
28 myelodysplastic syndrome 30.0 ABL1 ASXL1 EPO IL3 JAK2 MPL
29 aplastic anemia 29.8 ASXL1 EPO IL3 MPL TET2 THPO
30 acute promyelocytic leukemia 29.8 IL3 MIR223 STAT5B THBD
31 leukemia, chronic myeloid 29.7 ABL1 CD177 EPO IFNA1 IFNA2 IL3
32 thrombocythemia with distal limb defects 11.1
33 leukemia 10.7
34 myocardial infarction 10.5
35 lymphocytic leukemia 10.4
36 subacute myeloid leukemia 10.4 JAK2 TET2
37 unilateral absence of a pulmonary artery 10.3 THBD VWF
38 thrombocytopenia 3 10.3 MPL THPO
39 acute myocardial infarction 10.3
40 ischemia 10.3
41 thrombocytopenia-absent radius syndrome 10.3 CALR JAK2 MPL THPO
42 lymphomatoid granulomatosis 10.3 IFNA1 IFNA2
43 squamous papillomatosis 10.3 IFNA1 IFNA2
44 leukemia, chronic lymphocytic 2 10.3
45 leukemia, chronic lymphocytic 10.3
46 leukemia, b-cell, chronic 10.3
47 grange syndrome 10.3 SELP THBD VWF
48 primary thrombocytopenia 10.3 MPL SELP THPO VWF
49 autoimmune disease of blood 10.3 MPL SELP THPO VWF
50 dyskeratosis congenita, autosomal dominant 6 10.3 MPL 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:

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000975
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
4 splenomegaly 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001744
5 myocardial infarction 59 32 hallmark (90%) Very frequent (99-80%) HP:0001658
6 abnormal bleeding 59 32 hallmark (90%) Very frequent (99-80%) HP:0001892
7 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
8 transient ischemic attack 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002326
9 myelodysplasia 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002863
10 acute myeloid leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004808
11 pruritus 59 32 frequent (33%) Frequent (79-30%) HP:0000989
12 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
13 venous thrombosis 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004936
14 visual field defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001123
15 paresthesia 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0003401
16 amaurosis fugax 59 32 hallmark (90%) Very frequent (99-80%) HP:0100576
17 vertigo 59 32 occasional (7.5%) Occasional (29-5%) HP:0002321
18 thrombocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001894
19 chest pain 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0100749
20 acute leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002488
21 prolonged bleeding time 59 32 hallmark (90%) Very frequent (99-80%) HP:0003010
22 abnormal platelet morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0011875
23 arterial thrombosis 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004420
24 headache 59 32 frequent (33%) Frequent (79-30%) HP:0002315
25 syncope 59 32 occasional (7.5%) Occasional (29-5%) HP:0001279
26 spontaneous abortion 59 32 occasional (7.5%) Occasional (29-5%) HP:0005268
27 increased megakaryocyte count 59 32 hallmark (90%) Very frequent (99-80%) HP:0005513
28 myelofibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0011974
29 chronic myelogenous leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0005506
30 cerebral ischemia 59 Frequent (79-30%)
31 abnormality of the cerebral vasculature 59 Very frequent (99-80%)
32 abnormality of thrombocytes 59 Very frequent (99-80%)
33 abnormality of bone marrow cell morphology 59 Very frequent (99-80%)
34 occlusive vascular disease 59 Frequent (79-30%)
35 peripheral arterial stenosis 32 frequent (33%) HP:0004950

MGI Mouse Phenotypes related to Essential Thrombocythemia:

46
# 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 259)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anagrelide Approved Phase 4,Phase 3,Phase 2 68475-42-3 2182
2
Hydroxyurea Approved Phase 4,Phase 3,Phase 2,Not Applicable 127-07-1 3657
3 tannic acid Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
4
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
5
Zinc Approved, Investigational Phase 4 7440-66-6
6
Lactitol Investigational Phase 4,Phase 2,Phase 3 585-86-4 3871
7 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
8 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
9 Fibrinolytic Agents Phase 4,Phase 3,Phase 2,Not Applicable
10
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
11
Carboplatin Approved Phase 2, Phase 3,Phase 1 41575-94-4 10339178 38904 498142
12
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
13
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 6055-19-2, 50-18-0 2907
14
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 55-98-1 2478
15
Peginterferon alfa-2a Approved, Investigational Phase 3,Phase 2,Phase 1 198153-51-4 5360545
16
Aspirin Approved, Vet_approved Phase 3,Phase 2,Not Applicable 50-78-2 2244
17 Pomalidomide Approved Phase 3,Phase 2,Phase 1 19171-19-8
18
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
19
Heparin Approved, Investigational Phase 3 9005-49-6 772 46507594
20
Dalteparin Approved Phase 3 9005-49-6
21
Ondansetron Approved Phase 3,Phase 1,Phase 2,Not Applicable 99614-02-5 4595
22
Caspofungin Approved Phase 3,Phase 2 179463-17-3, 162808-62-0 468682 2826718
23
Amphotericin B Approved, Investigational Phase 3 1397-89-3 5280965 14956
24
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
25
Guaifenesin Approved, Investigational, Vet_approved Phase 3,Not Applicable 93-14-1 3516
26
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
27
Morphine Approved, Investigational Phase 3,Not Applicable 57-27-2 5288826
28
Melphalan Approved Phase 2, Phase 3,Phase 3,Phase 1 148-82-3 4053 460612
29
Thiotepa Approved, Investigational Phase 2, Phase 3,Phase 1 52-24-4 5453
30
Etoposide Approved Phase 2, Phase 3,Phase 1 33419-42-0 36462
31
Danazol Approved Phase 3,Phase 2 17230-88-5 28417
32
Cytarabine Approved, Investigational Phase 3,Phase 2,Phase 1 147-94-4 6253
33
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
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, Dissociative Phase 3
38 Anesthetics, General Phase 3
39 Excitatory Amino Acid Antagonists Phase 3
40 Excitatory Amino Acids Phase 3
41 Central Nervous System Depressants Phase 3,Phase 1,Phase 2,Not Applicable
42 Analgesics Phase 3,Phase 2,Phase 1,Not Applicable
43 Anesthetics, Intravenous Phase 3
44 Neurotransmitter Agents Phase 3,Phase 2,Not Applicable
45 Anesthetics Phase 3
46 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1,Not Applicable
47 Anti-Infective Agents Phase 3,Phase 2,Phase 1,Not Applicable
48 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
49 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Not Applicable
50 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 245)
# 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 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)
30 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
31 Momelotinib Versus Ruxolitinib in Subjects With Myelofibrosis Active, not recruiting NCT01969838 Phase 3 Momelotinib;Ruxolitinib;Placebo to match momelotinib;Placebo to match ruxolitinib
32 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
33 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
34 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 Not yet recruiting NCT03755518 Phase 3 FEDRATINIB
35 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis With Thrombocytopenia Terminated NCT02055781 Phase 3 Pacritinib;Best Available Therapy
36 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis Terminated NCT01773187 Phase 3 Pacritinib;Best Available Therapy
37 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)
38 LBH589 (Panobinostat) for the Treatment of Myelofibrosis Unknown status NCT01298934 Phase 1, Phase 2 LBH589
39 CEP-701 (Lestaurtinib) in Myelofibrosis Unknown status NCT00668421 Phase 1, Phase 2 CEP-701 (Lestaurtinib)
40 Pegylated Interferon Alfa-2a Salvage Therapy in High Risk Polycythemia Vera (PV) or Essential Thrombocythemia (ET) Completed NCT01259817 Phase 2 PEGASYS;Aspirin
41 Study to Determine the Safety and Efficacy of Ruxolitinib (INCB018424) in Patients With Polycythemia Vera or Essential Thrombocythemia Completed NCT00726232 Phase 2 Ruxolitinib
42 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
43 The Pharmacokinetics of Anagrelide in Elderly and Young Patients With Essential Thrombocythaemia (ET) Completed NCT00413634 Phase 2 anagrelide hydrochloride
44 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
45 Open Label Study to Evaluate the Activity of Imetelstat in Patients With Essential Thrombocythemia or Polycythemia Vera Completed NCT01243073 Phase 2 Imetelstat
46 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
47 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
48 Efficacy and Safety of Simtuzumab in Adults With Primary, Post Polycythemia Vera or Post Essential Thrombocythemia Myelofibrosis Completed NCT01369498 Phase 2 Simtuzumab;Ruxolitinib
49 Open Label Ruxolitinib (INCB018424) in Patients With Myelofibrosis and Post Polycythemia Vera/Essential Thrombocythemia Myelofibrosis Completed NCT00509899 Phase 1, Phase 2 Ruxolitinib
50 Study With SAR302503 in Patients With Polycythemia Vera or Essential Thrombocythemia Completed NCT01420783 Phase 2 SAR302503

Search NIH Clinical Center for Essential Thrombocythemia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: thrombocythemia, essential

Genetic Tests for Essential Thrombocythemia

Genetic tests related to Essential Thrombocythemia:

# Genetic test Affiliating Genes
1 Essential Thrombocythemia 29 CALR SH2B3 THPO

Anatomical Context for Essential Thrombocythemia

MalaCards organs/tissues related to Essential Thrombocythemia:

41
Bone, Bone Marrow, Myeloid, T Cells, Skin, Spleen, Endothelial

Publications for Essential Thrombocythemia

Articles related to Essential Thrombocythemia:

(show top 50) (show all 1130)
# Title Authors Year
1
A rare CALR variant mutation and a review of CALR in essential thrombocythemia. ( 29411299 )
2018
2
Calreticulin mutation analysis in non-mutated Janus kinase 2 essential thrombocythemia patients in Chiang Mai University: analysis of three methods and clinical correlations. ( 29521158 )
2018
3
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
4
Concomitant CALR and LNK mutations leading to essential thrombocythemia with erythrocytosis. ( 29703677 )
2018
5
Genomics of clonal evolution in a case of essential thrombocythemia. ( 28604261 )
2018
6
Distinguishing myelofibrosis from polycythemia vera and essential thrombocythemia: The utility of enumerating circulating stem cells with aberrant hMICL expression by flow cytometry. ( 29427319 )
2018
7
Impact of white blood cells on thrombotic risk in patients with optimized platelet count in essential thrombocythemia. ( 29603799 )
2018
8
Mastocytosis With Associated Essential Thrombocythemia. ( 29566880 )
2018
9
Essential Thrombocythemia Presenting as Paraneoplastic Glomerulonephritis. ( 29962681 )
2018
10
Phosphatidylserine-exposing blood and endothelial cells contribute to the hypercoagulable state in essential thrombocythemia patients. ( 29332224 )
2018
11
ASXL1 mutations in Chinese patients with essential thrombocythemia. ( 29725364 )
2018
12
Chronic recurrent pulmonary thromboembolism in a patient with essential thrombocythemia, complicating acute right ventricular infarct. ( 29318735 )
2018
13
Validation of previous prognostic models for thrombosis and exploration of modified models in patients with essential thrombocythemia. ( 29971894 )
2018
14
Essential thrombocythemia treatment algorithm 2018. ( 29321520 )
2018
15
Polycythemia vera and essential thrombocythemia: algorithmic approach. ( 29194068 )
2018
16
Non-driver mutations in patients with JAK2V617F-mutated polycythemia vera or essential thrombocythemia with long-term molecular follow-up. ( 29181548 )
2018
17
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
18
Value of cytogenetic abnormalities in post-polycythemia vera and post-essential thrombocythemia myelofibrosis: a study of the MYSEC project. ( 29622658 )
2018
19
Cardiac Surgery Using Hypothermic Circulatory Arrest in a Case of Essential Thrombocythemia. ( 29925725 )
2018
20
Pediatric Chronic Myeloid Leukemia Presenting With Extreme Thrombocytosis Simulating Essential Thrombocythemia. ( 29668550 )
2018
21
Clinico-hematological profile and thrombotic/hemorrhagic events in 150 chinese patients with essential thrombocythemia. ( 29609040 )
2018
22
Essential Thrombocythemia and Cardiac Surgery: A Case Series and Review of the Literature. ( 29705369 )
2018
23
A mutation in PTPN11 may drive leukemic transformation in a case of essential thrombocythemia. ( 28587547 )
2018
24
Pegylated interferon Alfa-2a and hydroxyurea in polycythemia vera and essential thrombocythemia: differential cellular and molecular responses. ( 29556018 )
2018
25
Antiplatelet use in patients with essential thrombocythemia: A survey of opinion and Canadian practice. ( 29751169 )
2018
26
Anagrelide and the CALR mutation allele burden in essential thrombocythemia. ( 29949532 )
2018
27
The Aspirin Regimens in Essential Thrombocythemia (ARES) phase II randomized trial design: Implementation of the serum thromboxane B<sub>2</sub> assay as an evaluation tool of different aspirin dosing regimens in the clinical setting. ( 29880847 )
2018
28
Cerebral Venous Sinus Thrombosis as the First Manifestation of JAK2<sup>V617F</sup>-positive Essential Thrombocythemia. ( 29521303 )
2018
29
The 2014 BCSH criteria and the 2016 WHO criteria for essential thrombocythemia: a comparison in a large-scale cohort. ( 29405428 )
2018
30
Treatment of essential thrombocythemia in Europe: a prospective long-term observational study of 3649 high-risk patients in the Evaluation of Anagrelide Efficacy and Long-term Safety study. ( 29079600 )
2018
31
Shortened telomeres in essential thrombocythemia: clinicopathological and treatment correlations. ( 29191839 )
2018
32
Non-adherence to treatment with cytoreductive and/or antithrombotic drugs is frequent and associated with an increased risk of complications in patients with polycythemia vera or essential thrombocythemia (OUEST study). ( 29246923 )
2018
33
Prognostic risk model for patients with high-risk polycythemia vera and essential thrombocythemia. ( 29313725 )
2018
34
Selected Parameters of Angiogenesis and the JAK2, CALR, and MPL Mutations in Patients With Essential Thrombocythemia. ( 29390868 )
2018
35
Thrombohemorrhagic events, disease progression, and survival in polycythemia vera and essential thrombocythemia: a retrospective survey in Miyazaki prefecture, Japan. ( 29488167 )
2018
36
Genetic Alterations in Essential Thrombocythemia Progression to Acute Myeloid Leukemia: A Case Series and Review of the Literature. ( 29515972 )
2018
37
Essential thrombocythemia during treatment of acute myeloid leukemia with JAK2 V617F mutation: A case report of a CARE-compliant article. ( 29979407 )
2018
38
The comorbidity of acute ischemic stroke and splenic infarction resulting from essential thrombocythemia. ( 29984396 )
2018
39
Aortic valve replacement with essential thrombocythemia. ( 29984585 )
2018
40
Early/prefibrotic primary myelofibrosis in patients who were initially diagnosed with essential thrombocythemia. ( 29987745 )
2018
41
Multiple Placental Infarcts in a Pregnant Woman with Essential Thrombocythemia: A Case Report. ( 30101937 )
2018
42
Composite chronic myeloid leukemia and essential thrombocythemia with BCR-ABL1 fusion and CALR mutation. ( 30105753 )
2018
43
A phase 3b, multicenter, open-label extension study of the long-term safety of anagrelide in Japanese adults with essential thrombocythemia. ( 30121892 )
2018
44
Hydroxycarbamide Plus Aspirin Versus Aspirin Alone in Patients With Essential Thrombocythemia Age 40 to 59 Years Without High-Risk Features. ( 30153096 )
2018
45
Coexistent Breast Cancer and Essential Thrombocythemia: How We Addressed the Therapeutic Challenges. ( 30159181 )
2018
46
A novel somatic CALR mutation in essential thrombocythemia and effective response to interferon-alfa-2b therapy. ( 30190203 )
2018
47
Modest contribution of JAK2 V617F allele burden to the occurrence of major thrombosis in polycthemia vera and essential thrombocythemia. ( 30249383 )
2018
48
Decreased survival and increased rate of fibrotic progression in essential thrombocythemia chronicled after the FDA approval date of anagrelide. ( 30252953 )
2018
49
Polycythemia vera and essential thrombocythemia: 2019 update on diagnosis, risk-stratification and management. ( 30281843 )
2018
50
Gender effect on phenotype and genotype in patients with post-polycythemia vera and post-essential thrombocythemia myelofibrosis: results from the MYSEC project. ( 30291232 )
2018

Variations for Essential Thrombocythemia

ClinVar genetic disease variations for Essential Thrombocythemia:

6 (show top 50) (show all 175)
# 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 GRCh37 Chromosome 19, 13054565: 13054616
11 CALR NM_004343.3(CALR): c.1092_1143del52 (p.Leu367Thrfs) deletion Pathogenic 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_000460.3(THPO): c.1030A> G (p.Thr344Ala) single nucleotide variant Benign/Likely benign rs35794435 GRCh38 Chromosome 3, 184372545: 184372545
39 THPO NM_000460.3(THPO): c.1030A> G (p.Thr344Ala) single nucleotide variant Benign/Likely benign rs35794435 GRCh37 Chromosome 3, 184090333: 184090333
40 THPO NM_000460.3(THPO): c.229-17_229-14dupTTCC duplication Benign/Likely benign rs55827759 GRCh38 Chromosome 3, 184373596: 184373599
41 THPO NM_000460.3(THPO): c.229-17_229-14dupTTCC duplication Benign/Likely benign rs55827759 GRCh37 Chromosome 3, 184091384: 184091387
42 THPO NM_000460.3(THPO): c.*18G> A single nucleotide variant Uncertain significance rs180680111 GRCh37 Chromosome 3, 184090283: 184090283
43 THPO NM_000460.3(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 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.95 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
13.27 IFNA1 IFNA2 IL3 JAK2 STAT5B TP53
5
Show member pathways
12.96 CALR IFNA1 IFNA2 JAK2 STAT5B TP53
6
Show member pathways
12.86 EPO IFNA1 IFNA2 IL3 JAK2 TP53
7
Show member pathways
12.69 IFNA1 IFNA2 JAK2 STAT5B TP53
8 12.69 ABL1 EPO IFNA1 IFNA2 IL3 JAK2
9
Show member pathways
12.55 ABL1 CD177 IFNA1 IFNA2 IL3 JAK2
10 12.47 IFNA1 IL3 JAK2 MPL STAT5B
11
Show member pathways
12.2 IFNA1 IFNA2 JAK2 STAT5B
12 12.18 CALR IFNA1 IFNA2 TP53
13
Show member pathways
12.16 ABL1 IFNA1 IFNA2 IL3 PPBP THPO
14
Show member pathways
12.11 IFNA1 IFNA2 JAK2 STAT5B
15
Show member pathways
12.04 EPO IL3 JAK2 SH2B3 STAT5B
16 11.99 ABL1 IFNA1 IFNA2 JAK2 SH2B3 TP53
17
Show member pathways
11.97 ABL1 EPO IFNA1 IFNA2 IL3 JAK2
18 11.81 JAK2 STAT5B THBD
19 11.81 JAK2 MPL STAT5B THPO
20
Show member pathways
11.8 MPL THPO VWF
21 11.8 EPO IFNA2 IL3 MPL SH2B3 THPO
22 11.79 EPO IL3 THPO
23
Show member pathways
11.78 EPO JAK2 SH2B3 STAT5B
24 11.64 ABL1 EPO IFNA1 IFNA2 IL3 JAK2
25 11.56 JAK2 SELP STAT5B
26 11.21 ABL1 JAK2 TP53
27 11.21 JAK2 MPL STAT5B THPO
28
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 peptidyl-tyrosine phosphorylation GO:0018108 9.78 ABL1 IL3 JAK2 STAT5B
4 response to lipopolysaccharide GO:0032496 9.76 EPO JAK2 SELP THBD
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.56 ABL1 IL3 JAK2 TP53
6 B cell proliferation GO:0042100 9.54 ABL1 IFNA1 IFNA2
7 embryonic hemopoiesis GO:0035162 9.52 IL3 SH2B3
8 negative regulation of cell-cell adhesion GO:0022408 9.51 ABL1 JAK2
9 cytokine-mediated signaling pathway GO:0019221 9.5 IFNA1 IFNA2 IL3 JAK2 MPL STAT5B
10 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.49 JAK2 STAT5B
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 protein tyrosine kinase activity GO:0004713 9.26 ABL1 IL3 JAK2 STAT5B
5 cytokine activity GO:0005125 9.1 EPO IFNA1 IFNA2 IL3 PPBP THPO

Sources for Essential Thrombocythemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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