MCID: MYL005
MIFTS: 75

Myelofibrosis malady

Genetic diseases, Rare diseases, Cancer diseases, Bone diseases, Immune diseases categories
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Summaries for Myelofibrosis

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NIH Rare Diseases:42 Myelofibrosis is a disorder of the bone marrow, in which the marrow is replaced by fibrous (scar) tissue. scarring of the bone marrow causes anemia, which can lead to fatigue and weakness, as well as pooling of the blood in abnormal sites like the liver and spleen, causing these organs to swell. although myelofibrosis can occur at any age, it typically develops after the age of 50. in most cases, myelofibrosis gets progressively worse. treatment is aimed at relieving signs and symptoms and may include medications, blood transfusions, chemotherapy, radiation therapy and surgery.    last updated: 8/17/2011

MalaCards based summary: Myelofibrosis, also known as agnogenic myeloid metaplasia, is related to splenomegaly and leukemoid reaction. An important gene associated with Myelofibrosis is JAK2 (Janus kinase 2), and among its related pathways are Integrin alphaIIb beta3 signaling and Paxillin-dependent events mediated by a4b1. The drug busulfan and the compounds megapoietin and pp 100 have been mentioned in the context of this disorder. Affiliated tissues include the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue, bone and bone marrow, and related mouse phenotypes are tumorigenesis and embryogenesis.

Disease Ontology:8 A myeloma that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.

Genetics Home Reference:21 Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis.

Wikipedia:65 Myelofibrosis, also known as osteomyelofibrosis, is a rare bone marrow cancer. It is currently... more...

Description from OMIM:46 254450

Aliases & Classifications for Myelofibrosis

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Myelofibrosis, Aliases & Descriptions:

Name: Myelofibrosis 30 8 42 22 10 44 62
Agnogenic Myeloid Metaplasia 8 42 21 44 62
Primary Myelofibrosis 8 42 21 44 62
Idiopathic Myelofibrosis 42 21 44 62
Myeloid Metaplasia 42 21 44 62
Myelofibrosis with Myeloid Metaplasia 21 62
 
Chronic Idiopathic Myelofibrosis 21 62
Megakaryocytic Myelosclerosis 8 62
Myelosclerosis 8 62
Fibrosis, Bone Marrow 62
Bone Marrow Fibrosis 8
Aleukemic Myelosis 8


Classifications:



External Ids:

Disease Ontology8 DOID:4971
NCIt39 C2862
ICD9CM27 238.76
OMIM46 254450
MeSH34 D055728

Related Diseases for Myelofibrosis

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Diseases in the Myelofibrosis family:

Familial Myelofibrosis

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

(show top 50)    (show all 214)
idRelated DiseaseScoreTop Affiliating Genes
1splenomegaly30.9THPO, JAK2, EPO, MPL
2leukemoid reaction30.8IL3, GATA1
3hypersplenism30.6THPO
4myelofibrosis, somatic30.5JAK2, SH2B3
5megakaryocytic leukemia30.5GATA1, IL3, THPO
6beta thalassemia30.5GATA1, EPO
7polycythemia30.4THPO, MPL, EPO, JAK2, IL3, CD177
8hypereosinophilic syndrome30.4IL3, KIT
9systemic mastocytosis30.4JAK2, KIT
10sarcoma30.3THPO, KIT, JAK2
11pancytopenia30.2THPO, MPL, EPO, IL3
12thrombocytopenia30.1THPO, GATA1, IL3, EPO, MPL
13myeloma30.1EPO, JAK2, IL3, FGF2
14myeloid leukemia30.0GATA1, THPO, KIT, IL3, MPL, JAK2
15polycythemia vera29.8THPO, SH2B3, MPL, EPO, JAK2, IL3
16thrombocytosis29.7THPO, IL3, EPO, JAK2, CD177, MPL
17acute lymphoblastic leukemia29.6JAK2, IL3, MPL, THPO, GATA1, KIT
18leukemia29.5THPO, MPL, EPO, JAK2, KIT, GATA1
19aplastic anemia29.5EPO, MPL, GATA1, THPO, IL3
20refractory anemia29.5KIT, IL3, JAK2, EPO, MPL, THPO
21myelodysplastic syndromes29.4GATA1, THPO, CD177, MPL, KIT, EPO
22deficiency anemia29.3THPO, GATA1, JAK2, EPO, MPL, IL3
23erythrocytosis29.2CD177, IL3, JAK2, EPO, MPL
24neutropenia29.2CD177, EPO, IL3, MPL, THPO
25acute leukemia29.0GATA1, KIT, IL3, EPO, MPL, THPO
26chronic myeloid leukemia28.8CD177, THPO, MPL, EPO, JAK2, IL3
27hemorrhagic thrombocythemia28.7JAK2, IL3, KIT, GATA1, CD177, EPO
28essential thrombocythemia10.8
29acute panmyelosis with myelofibrosis10.6
30thrombocythemia 110.5THPO
31osteosclerosis10.5
32arteriovenous fistula10.4EPO
33purpura10.4THPO
34acute myeloid leukemia10.4
35hypertension10.4
36bone marrow cancer10.4MPL, JAK2
37acquired polycythemia10.4JAK2, EPO
38nocardiosis10.3
39aspergillosis10.3
40hepatic vascular disease10.3
41vascular disease10.3
42thrombocytopenia due to platelet alloimmunization10.3MPL, THPO
43hematopoietic stem cell transplantation10.3
44primary polycythemia10.3EPO, JAK2
45erythrocytosis, somatic10.3JAK2, SH2B3
46x-linked thrombocytopenia10.3THPO, GATA1
47myelofibrosis with myeloid metaplasia, somatic10.3
48autoimmune thrombocytopenic purpura10.3MPL, THPO
49pulmonary hypertension10.3
50iron deficiency anemia10.3THPO, EPO

Graphical network of the top 20 diseases related to Myelofibrosis:



Diseases related to myelofibrosis

Symptoms for Myelofibrosis

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Clinical features from OMIM:

254450

Drugs & Therapeutics for Myelofibrosis

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Drug clinical trials:

Search ClinicalTrials for Myelofibrosis

Search NIH Clinical Center for Myelofibrosis

Inferred drug relations via UMLS62/NDF-RT40:

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Myelofibrosis cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Myelofibrosis:
Peripheral blood-derived hematopoietic stem cells for treatment of myelofibrosis
Embryonic/Adult Cultured Cells Related to Myelofibrosis:
Peripheral blood-derived hematopoietic stem cells (family)

Genetic Tests for Myelofibrosis

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Genetic tests related to Myelofibrosis:

id Genetic test Affiliating Genes
1 Myelofibrosis22

Anatomical Context for Myelofibrosis

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MalaCards organs/tissues related to Myelofibrosis:

32
Bone, Bone marrow, Myeloid, Spleen, Liver, T cells, Endothelial, Monocytes, Whole blood, Nk cells, Neutrophil, Colon, Lung, Prostate, B cells, Lymph node, Brain, Spinal cord, Kidney, Breast, Ovary, Testes

FMA organs/tissues related to Myelofibrosis:

14
The bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue

Animal Models for Myelofibrosis or affiliated genes

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MGI Mouse Phenotypes related to Myelofibrosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6FGF2, KIT, IL3, JAK2
2MP:00053808.6MPL, EPO, JAK2, KIT, GATA1
3MP:00028738.1EPO, JAK2, FKBP5, KIT, GATA1
4MP:00053877.6THPO, SH2B3, MPL, JAK2, IL3, KIT
5MP:00053847.3SH2B3, MPL, EPO, JAK2, IL3, KIT
6MP:00053767.2MPL, EPO, JAK2, FKBP5, IL3, KIT
7MP:00107687.1MPL, EPO, JAK2, FKBP5, IL3, KIT
8MP:00053977.0FGF2, THPO, SH2B3, MPL, EPO, JAK2

Publications for Myelofibrosis

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Articles related to Myelofibrosis:

(show top 50)    (show all 809)
idTitleAuthorsYear
1
Long-term survival and blast transformation in molecularly annotated essential thrombocythemia, polycythemia vera, and myelofibrosis. (25037629)
2014
2
Efficacy and safety of ruxolitinib in Asian patients with myelofibrosis. (25315076)
2014
3
SETBP1 mutations in 415 patients with primary myelofibrosis or chronic myelomonocytic leukemia: independent prognostic impact in CMML. (23558523)
2013
4
Abnormal P-selectin localization during megakaryocyte development determines thrombosis in the gata1low model of myelofibrosis. (24176039)
2013
5
Reversible bone marrow aplasia induced by pegylated interferon-I+-2a therapy in a patient with primary myelofibrosis. (24067929)
2013
6
Chromosome 5q deletion is extremely rare in patients with myelofibrosis. (23391517)
2013
7
Myelofibrosis in Philadelphia chromosome-negative myeloproliferative neoplasms is associated with aberrant karyotypes. (23571153)
2013
8
Lymphodepletion chemotherapy followed by donor leukocytes for post-transplantation relapse of myelofibrosis after previous donor leukocyte infusion failure. (23110685)
2013
9
Primary myelofibrosis: 2013 update on diagnosis, risk-stratification, and management. (23349007)
2013
10
JAK2 V617F genotype is a strong determinant of blast transformation in primary myelofibrosis. (23555782)
2013
11
The relationship of the active and latent forms of TGF-I^1 with marrow fibrosis in essential thrombocythemia and primary myelofibrosis. (22200991)
2012
12
Myelofibrosis: a cause of increased transfusion requirement in a child with I^-thalassemia intermedia. (22009011)
2012
13
Guideline for the diagnosis and management of myelofibrosis. (22651893)
2012
14
JAK2 V617F, MPL W515L and JAK2 Exon 12 Mutations in Chinese Patients with Primary Myelofibrosis. (23359764)
2012
15
GR SNP helps transform myelofibrosis. (23065009)
2012
16
Ruxolitinib for myelofibrosis therapy: current context, pros and cons. (22285996)
2012
17
Ruxolitinib: in the treatment of myelofibrosis. (23061804)
2012
18
Evaluating the serial use of the Myelofibrosis Symptom Assessment Form for measuring symptomatic improvement: performance in 87 myelofibrosis patients on a JAK1 and JAK2 inhibitor (INCB018424) clinical trial. (21480207)
2011
19
Ruxolitinib for the treatment of myelofibrosis. (22146225)
2011
20
Bone marrow fibrosis in myeloproliferative neoplasms-associated myelofibrosis: deconstructing a myth? (21296418)
2011
21
The surgical palliative treatment of myelofibrosis. Personal experience. (21682106)
2011
22
Improved outcomes using tacrolimus/sirolimus for graft-versus-host disease prophylaxis with a reduced-intensity conditioning regimen for allogeneic hematopoietic cell transplant as treatment of myelofibrosis. (19786111)
2010
23
Screening for MPL mutations in essential thrombocythemia and primary myelofibrosis: normal Mpl expression and absence of constitutive STAT3 and STAT5 activation in MPLW515L-positive platelets. (20113333)
2010
24
Thrombosis in primary myelofibrosis: incidence and risk factors. (19965680)
2010
25
JAK inhibition in myelofibrosis. (21158663)
2010
26
Toxic epidermal necrolysis in a patient with primary myelofibrosis receiving thalidomide therapy. (19052692)
2009
27
Lenalidomide plus prednisone results in durable clinical, histopathologic, and molecular responses in patients with myelofibrosis. (19720904)
2009
28
Massive eyelid thickening in pachydermoperiostosis with myelofibrosis. (19617796)
2009
29
JAK2(V617F) allele burden discriminates essential thrombocythemia from a subset of prefibrotic-stage primary myelofibrosis. (19616600)
2009
30
The presence of JAK2V617F in primary myelofibrosis or its allele burden in polycythemia vera predicts chemosensitivity to hydroxyurea. (18266209)
2008
31
Plasma cell leukemia with myelofibrosis. (19039200)
2008
32
Myelofibrosis in a child with EBV-associated hemophagocytic lymphohistiocytosis. (18454467)
2008
33
A higher JAK2 V617F-mutated clone is observed in platelets than in granulocytes from essential thrombocythemia patients, but not in patients with polycythemia vera and primary myelofibrosis. (17361221)
2007
34
Hematopoietic cell transplantation as curative therapy for idiopathic myelofibrosis, advanced polycythemia vera, and essential thrombocythemia. (17317589)
2007
35
No influence of V617F mutation in JAK2 on outcome after allogeneic hematopoietic stem cell transplantation (HSCT) for myelofibrosis. (17162218)
2006
36
MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. (16834459)
2006
37
Methylation analysis of the cell cycle control genes in myelofibrosis with myeloid metaplasia. (15755503)
2005
38
A patient with TP53 germline mutation developed Bowen's disease and myelodysplastic syndrome with myelofibrosis after chemotherapy against ovarian cancer. (15942101)
2005
39
Acute panmyelosis with myelofibrosis: clinical, immunophenotypic and cytogenetic study of twelve cases. (15223649)
2004
40
Systemic lupus erythematosus presenting with pancytopenia due to bone marrow myelofibrosis in a 22-year-old male. (16163223)
2004
41
Impaired NK cell differentiation of blood-derived CD34+ progenitors from patients with myeloid metaplasia with myelofibrosis. (12706407)
2003
42
SU6668 in idiopathic myelofibrosis--a rational therapeutic approach targeting several tyrosine kinases of importance for the myeloproliferation and the development of bone marrow fibrosis and angiogenesis. (12888313)
2003
43
Lack of alteration in GATA-1 expression in CD34+ hematopoietic progenitors from patients with idiopathic myelofibrosis. (12788793)
2003
44
The therapy of myelofibrosis: targeting pathogenesis. (12430941)
2002
45
Esophageal variceal ligation for esophageal variceal hemorrhage in a patient with portal and primary pulmonary hypertension complicating myelofibrosis. (11330433)
2001
46
Erythroleukemia following erythropoietin therapy, extramedullary hematopoiesis, and splenectomy in a patient with myelofibrosis and myeloid metaplasia. (11391725)
2001
47
Dual implication of fibrogenic cytokines in the pathogenesis of fibrosis and myeloproliferation in myeloid metaplasia with myelofibrosis. (10550553)
1999
48
Laparoscopically assisted splenectomy following preoperative splenic artery embolization using contour emboli for myelofibrosis with massive splenomegaly. (10804000)
1999
49
PEG-rHuMGDF ameliorates thrombocytopenia in carboplatin-treated rats without inducing myelofibrosis. (10497847)
1999
50
Myelofibrosis secondary to renal osteodystrophy. (8730443)
1996

Variations for Myelofibrosis

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Expression for genes affiliated with Myelofibrosis

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Expression patterns in normal tissues for genes affiliated with Myelofibrosis

Search GEO for disease gene expression data for Myelofibrosis.

Pathways for genes affiliated with Myelofibrosis

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Pathways related to Myelofibrosis according to GeneCards/GeneDecks:

(show all 32)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9MPL, THPO
2
Show member pathways
Paxillin-independent events mediated by a4b1 and a4b737
a4b1 and a4b7 Integrin signaling37
9.8JAK2, EPO
39.8JAK2, GATA1
4
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway60
9.6JAK2, MPL, THPO
5
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway60
9.6THPO, MPL, JAK2
69.5FGF2, KIT
7
Show member pathways
EPO Receptor Signaling37
EPO signaling pathway37
9.4JAK2, EPO, SH2B3
8
Show member pathways
9.4FGF2, JAK2, MPL
99.4GATA1, JAK2, SH2B3
10
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
9.3EPO, JAK2, KIT
119.2JAK2, KIT, FGF2
129.2GATA1, IL3, JAK2
13
Show member pathways
9.1FGF2, IL3, THPO
149.0GATA1, KIT, IL3
15
Show member pathways
Type III interferon signaling37
8.9MPL, EPO, JAK2, IL3
16
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
8.9SH2B3, EPO, JAK2, KIT
17
Show member pathways
8.8SH2B3, JAK2, KIT, FGF2
188.7KIT, IL3, EPO, THPO
19
Show member pathways
8.6FGF2, KIT, IL3, THPO
20
Show member pathways
8.6FGF2, KIT, IL3, THPO
21
Show member pathways
8.6THPO, IL3, KIT, FGF2
22
Show member pathways
8.6THPO, IL3, KIT, FGF2
23
Show member pathways
8.6THPO, IL3, KIT, FGF2
24
Show member pathways
8.4MPL, EPO, JAK2, IL3, KIT
25
Show member pathways
8.3FGF2, KIT, IL3, JAK2, THPO
26
Show member pathways
8.3THPO, JAK2, IL3, KIT, FGF2
27
Show member pathways
8.3KIT, IL3, JAK2, THPO, FGF2
28
Show member pathways
8.3THPO, JAK2, IL3, KIT, FGF2
29
Show member pathways
8.3THPO, JAK2, IL3, KIT, FGF2
308.2EPO, JAK2, IL3, KIT, FGF2
31
Show member pathways
8.0THPO, SH2B3, MPL, JAK2, GATA1, CD177
32
Show member pathways
7.6FGF2, THPO, MPL, EPO, JAK2, IL3

Compounds for genes affiliated with Myelofibrosis

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Compounds related to Myelofibrosis according to GeneCards/GeneDecks:

(show top 50)    (show all 81)
idCompoundScoreTop Affiliating Genes
1megapoietin4410.2THPO, MPL
2pp 1004410.1EPO, JAK2
3beta-tyrosine4410.0KIT, JAK2
4thromboxane44 2410.8GATA1, THPO, MPL
5su6668449.8KIT, FGF2
6pegfilgrastim44 1110.8EPO, IL3
7il 11449.7IL3, EPO
8anagrelide44 1110.7THPO, MPL, EPO, JAK2
9pixy321449.6THPO, EPO, IL3
10mafosfamide449.6IL3, THPO
11amifostine44 1110.6IL3, THPO, EPO
12filgrastim44 1110.6THPO, EPO, IL3
13gm-csf44 2810.6IL3, EPO, THPO
14aclarubicin449.5GATA1, IL3
15carboplatin44 50 1111.4THPO, IL3, EPO
16doxycycline44 1110.4IL3, EPO, FGF2
17iron44 2410.3GATA1, MPL, THPO, EPO
185-aza-2deoxycytidine449.3IL3, EPO, JAK2, THPO
19gf 109203x44 6110.1FGF2, JAK2, THPO
20ascorbic acid44 2410.1FGF2, EPO, JAK2, IL3
215fluorouracil449.1IL3, KIT, THPO, MPL
22genistein44 28 61 2 24 1114.0FGF2, THPO, IL3, JAK2
23phosphotyrosine449.0SH2B3, IL3, JAK2, KIT
24butyrate448.9THPO, EPO, GATA1, IL3, JAK2
25agar448.9IL3, FGF2, JAK2, MPL, THPO
26vincristine44 50 1110.9KIT, IL3, FGF2
27paclitaxel44 50 1110.9IL3, KIT, FGF2, THPO
28ly294002448.8EPO, FGF2, THPO, IL3, JAK2
29imatinib44 50 1110.8JAK2, KIT, IL3, EPO, THPO
30steroid448.8FKBP5, GATA1, THPO, JAK2, KIT
31alanine448.8THPO, FGF2, IL3, JAK2, MPL
32cytarabine44 50 1110.7THPO, EPO, KIT, GATA1, IL3
33pd 98,059448.7THPO, JAK2, IL3, KIT, FGF2
34methylcellulose448.7FGF2, THPO, EPO, IL3, KIT
35cyclosporin a44 28 6110.6EPO, FKBP5, IL3, FGF2, JAK2
36dexamethasone44 50 28 1111.6THPO, JAK2, FKBP5, IL3, FGF2
37lactate448.6IL3, THPO, KIT, EPO
38cysteine448.5THPO, MPL, JAK2, IL3, KIT
39gp 130448.5JAK2, EPO, KIT, MPL, THPO, IL3
40hydroxyurea44 50 1110.5GATA1, JAK2, IL3, KIT, THPO, EPO
41thymidine44 249.4FGF2, THPO, EPO, JAK2, IL3, KIT
42actinomycin d448.3KIT, THPO, JAK2, FGF2, GATA1, IL3
43vegf448.3FGF2, KIT, GATA1, JAK2, EPO, MPL
44rapamycin448.3JAK2, THPO, KIT, IL3, FKBP5, EPO
45estrogen448.3FGF2, GATA1, KIT, IL3, JAK2, THPO
46retinoic acid44 249.3THPO, JAK2, FGF2, GATA1, IL3, KIT
47serine448.2JAK2, FGF2, GATA1, KIT, MPL, IL3
48cycloheximide448.1IL3, FKBP5, JAK2, GATA1, FGF2, KIT
49phosphatidylinositol447.7SH2B3, MPL, EPO, JAK2, IL3, FGF2
50tyrosine446.8JAK2, THPO, EPO, IL3, FGF2, KIT

GO Terms for genes affiliated with Myelofibrosis

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Cellular components related to Myelofibrosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.2FGF2, KIT, IL3, EPO, THPO

Biological processes related to Myelofibrosis according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1response to axon injuryGO:0486789.9EPO, FGF2
2positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.8KIT, JAK2
3cellular response to thyroid hormone stimulusGO:0970679.8GATA1, KIT
4positive regulation of phospholipase C activityGO:0108639.7FGF2, KIT
5positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.6FGF2, KIT
6positive regulation of DNA replicationGO:0457409.6EPO, IL3
7positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.6JAK2, KIT
8erythrocyte differentiationGO:0302189.6GATA1, KIT, JAK2
9activation of MAPKK activityGO:0001869.4FGF2, JAK2
10positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.4JAK2, IL3, GATA1
11negative regulation of cell proliferationGO:0082859.4FGF2, GATA1, JAK2
12positive regulation of tyrosine phosphorylation of Stat5 proteinGO:0425239.0KIT, IL3, JAK2, EPO
13signal transductionGO:0071658.9FGF2, KIT, JAK2, EPO
14embryonic hemopoiesisGO:0351628.8SH2B3, IL3, KIT, GATA1
15positive regulation of cell proliferationGO:0082848.5EPO, JAK2, IL3, KIT, FGF2
16blood coagulationGO:0075968.2THPO, SH2B3, MPL, JAK2, GATA1, CD177

Molecular functions related to Myelofibrosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051259.1FGF2, IL3, THPO
2growth factor activityGO:0080838.8FGF2, IL3, THPO

Products for genes affiliated with Myelofibrosis

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Sources for Myelofibrosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
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47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
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