MCID: MYL045
MIFTS: 57

Myelofibrosis with Myeloid Metaplasia, Somatic

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

Aliases & Classifications for Myelofibrosis with Myeloid Metaplasia, Somatic

MalaCards integrated aliases for Myelofibrosis with Myeloid Metaplasia, Somatic:

Name: Myelofibrosis with Myeloid Metaplasia, Somatic 54 13 38
Myelofibrosis 38 12 50 71 29 52 14 69
Primary Myelofibrosis 12 50 25 56 52 42 69
Agnogenic Myeloid Metaplasia 12 50 25 56 71 52
Idiopathic Myelofibrosis 50 25 56 71 52
Myeloid Metaplasia 50 25 52 69
Myelofibrosis with Myeloid Metaplasia 25 56 71
Megakaryocytic Myelosclerosis 12 69
Myelofibrosis, Somatic 54 24
Osteomyelofibrosis 56 69
Myelosclerosis 12 71
Agnogenic Myeloid Metaplasia with Myelofibrosis 71
Myelosclerosis with Myeloid Metaplasia 71
Chronic Idiopathic Myelofibrosis 25
Bone Marrow Fibrosis 12
Aleukemic Myelosis 12
Myelof 71
Ammm 71
Mmm 71

Characteristics:

Orphanet epidemiological data:

56
primary myelofibrosis
Prevalence: 1-9/100000 (Europe); Age of onset: Adult;

OMIM:

54
Miscellaneous:
onset first weeks of life

Inheritance:
somatic mutation


HPO:

32
myelofibrosis with myeloid metaplasia, somatic:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:



External Ids:

OMIM 54 254450
Disease Ontology 12 DOID:4971
ICD10 33 D47.4 D75.81
ICD9CM 35 238.76 289.83
NCIt 47 C2862 C3248
Orphanet 56 ORPHA824
UMLS via Orphanet 70 C0026987 C0001815
ICD10 via Orphanet 34 D47.4

Summaries for Myelofibrosis with Myeloid Metaplasia, Somatic

NIH Rare Diseases : 50 myelofibrosis is a disorder of the spongy tissue inside the bone (bone marrow) that contains the stem cells that will form blood cells. in myelofibrosis, the bone marrow is replaced by fibrous (scar) tissue. when the bone marrow is scarred, it cannot make enough blood cells. this leads to anemia, weakness, fatigue, and often, swelling of the liver and spleen. the disorder occurs when blood stem cells develop somatic mutations in the jak2, mpl, calr, and tet2 genes. other genes may also be involved. the disorder is generally not inherited because this type of mutation does not affect the reproductive cells (sperm and egg) only certain cells of the body (somatic). although myelofibrosis can occur at any age, it typically develops after the age of 50 years. 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. bone marrow or stem cell transplant may improve symptoms, and may cure the disease.    last updated: 6/13/2017

MalaCards based summary : Myelofibrosis with Myeloid Metaplasia, Somatic, also known as myelofibrosis, is related to acute panmyelosis with myelofibrosis and thrombocytopenia, anemia, and myelofibrosis, and has symptoms including myelofibrosis and myeloproliferative disorder. An important gene associated with Myelofibrosis with Myeloid Metaplasia, Somatic is MPL (MPL Proto-Oncogene, Thrombopoietin Receptor), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. The drugs Paroxetine and Antidepressive Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, myeloid and bone marrow, and related phenotypes are hematopoietic system and cellular

UniProtKB/Swiss-Prot : 71 Myelofibrosis: A disorder characterized by replacement of the bone marrow by fibrous tissue, occurring in association with a myeloproliferative disorder. Clinical manifestations may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension. Myelofibrosis with myeloid metaplasia: A chronic myeloproliferative disorder characterized by replacement of the bone marrow by fibrous tissue, extramedullary hematopoiesis, anemia, leukoerythroblastosis and hepatosplenomegaly.

Genetics Home Reference : 25 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.

Disease Ontology : 12 A myeloid neoplasm that is located in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue.

Wikipedia : 72 Myelofibrosis, also known as osteomyelofibrosis, is a relatively rare bone marrow cancer. It is... more...

Description from OMIM: 254450

Related Diseases for Myelofibrosis with Myeloid Metaplasia, Somatic

Diseases related to Myelofibrosis with Myeloid Metaplasia, Somatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
id Related Disease Score Top Affiliating Genes
1 acute panmyelosis with myelofibrosis 12.3
2 thrombocytopenia, anemia, and myelofibrosis 12.1
3 familial myelofibrosis 11.9
4 cellular phase chronic idiopathic myelofibrosis 11.7
5 thrombocytopenia 6 11.4
6 gray platelet syndrome 11.4
7 myeloproliferative neoplasm 11.3
8 essential thrombocythemia 11.2
9 megakaryocytic leukemia 11.1
10 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) 11.0 FLT3 KIT
11 inflammatory bowel disease 18 10.9 MPL THPO
12 specific granule deficiency 2 10.9
13 poems syndrome 10.9 EPO TET2 THPO
14 thrombocytopenia, congenital amegakaryocytic 10.9 IL3 MPL THPO
15 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome 10.9 FLT3 KIT
16 ocular hyperemia 10.9 JAK2 MPL THPO
17 methemoglobinemia 10.9 EPO IL3 JAK2
18 acute leukemia 10.9 EPO GATA1 JAK2
19 budd-chiari syndrome 10.8 CALR JAK2 MPL
20 hypotrichosis, congenital, with juvenile macular dystrophy 10.8 MPL THPO
21 alopecia-mental retardation syndrome 1 10.8 CALR MPL SH2B3 THPO
22 anus leiomyoma 10.8 CD177 KIT
23 acute pre-b-cell lymphoblastic leukemia 10.8 FLT3 JAK2 KIT
24 dyserythropoietic anemia and thrombocytopenia 10.8 FLT3 JAK2 KIT
25 thrombocytopenic purpura, autoimmune 10.8 IFNA2 MPL THPO
26 dic in newborn 10.8 EPO IL3 STAT5B
27 neutropenia, severe congenital, 5, autosomal recessive 10.8
28 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 10.8 BMP6 FGF2 KIT
29 perichondritis of auricle 10.8 JAK2 MPL THPO
30 blood coagulation disease 10.8 EPO MPL THPO
31 bleeding disorder, platelet-type, 17 10.7
32 ohdo syndrome, maat-kievit-brunner type 10.7 BMP6 FGF2 TGFB1
33 pontocerebellar hypoplasia type 2b 10.7 EPO GATA1 IL3 JAK2
34 lacrimal system cancer 10.7 EPO IL3 JAK2 THPO
35 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia 10.7 GATA1 THPO
36 microcystic adenoma 10.7 GATA1 IL3 JAK2 THPO
37 split hand/foot malformation x-linked 10.7 EPO IFNA2 JAK2 MPL
38 brain injury 10.7 FGF2 IL3 TGFB1
39 charcot-marie-tooth disease, type 4c 10.7 EPO TET2
40 hypereosinophilic syndrome, idiopathic, resistant to imatinib 10.7 IFNA2 KIT TET2
41 chronic venous leg ulcers 10.7 FLT3 JAK2 KIT TET2
42 nephrotic syndrome, idiopathic, steroid-resistant 10.7 EPO TGFB1 TIMP1
43 beare-stevenson cutis gyrata syndrome 10.7 BMP6 FGF2 TGFB1
44 congenital methemoglobinemia 10.7 BMP6 TGFB1 TIMP1
45 temporal lobe epilepsy 10.7 IFNA2 JAK2 KIT TET2
46 thrombocytopenia-absent radius syndrome 10.7 CALR GATA1 JAK2 MPL THPO
47 niemann-pick disease 10.7 CD177 EPO IL3 THPO
48 postsynaptic congenital myasthenic syndromes 10.7 EPO IL3 JAK2 MPL TET2
49 malignant struma ovarii 10.6 BMP6 EPO TGFB1
50 exudative vitreoretinopathy 1 10.6 FGF2 TGFB1 TIMP1

Graphical network of the top 20 diseases related to Myelofibrosis with Myeloid Metaplasia, Somatic:



Diseases related to Myelofibrosis with Myeloid Metaplasia, Somatic

Symptoms & Phenotypes for Myelofibrosis with Myeloid Metaplasia, Somatic

Symptoms via clinical synopsis from OMIM:

54

Hematology:
generalized bone marrow fibrosis
no hemophagocytosis
reduced hemopoiesis
myeloproliferative disease


Clinical features from OMIM:

254450

Human phenotypes related to Myelofibrosis with Myeloid Metaplasia, Somatic:

32
id Description HPO Frequency HPO Source Accession
1 myelofibrosis 32 HP:0011974
2 myeloproliferative disorder 32 HP:0005547

MGI Mouse Phenotypes related to Myelofibrosis with Myeloid Metaplasia, Somatic:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.25 GATA1 JAK2 KIT MPL SH2B3 STAT5B
2 cellular MP:0005384 10.21 JAK2 KIT MPL SH2B3 STAT5B TET2
3 homeostasis/metabolism MP:0005376 10.18 CALR EPO FGF2 FKBP5 FLT3 GATA1
4 immune system MP:0005387 10.13 CD177 EPO FLT3 GATA1 JAK2 KIT
5 mortality/aging MP:0010768 9.97 EPO FGF2 FKBP5 FLT3 GATA1 JAK2
6 liver/biliary system MP:0005370 9.8 EPO GATA1 JAK2 KIT STAT5B TET2
7 neoplasm MP:0002006 9.5 FGF2 FLT3 JAK2 KIT TET2 TGFB1
8 skeleton MP:0005390 9.28 BMP6 EPO FGF2 FLT3 GATA1 JAK2

Drugs & Therapeutics for Myelofibrosis with Myeloid Metaplasia, Somatic

Drugs for Myelofibrosis with Myeloid Metaplasia, Somatic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paroxetine Approved, Investigational Phase 3 61869-08-7 43815
2 Antidepressive Agents Phase 3
3 Antidepressive Agents, Second-Generation Phase 3
4 Cytochrome P-450 CYP2D6 Inhibitors Phase 3
5 Cytochrome P-450 Enzyme Inhibitors Phase 3
6 Neurotransmitter Agents Phase 3
7 Neurotransmitter Uptake Inhibitors Phase 3
8 Psychotropic Drugs Phase 3
9
Serotonin Phase 3 50-67-9 5202
10 Serotonin Agents Phase 3
11 Serotonin Uptake Inhibitors Phase 3
12
Copper Approved Phase 1, Phase 2 7440-50-8 27099
13 Micronutrients Phase 1, Phase 2
14 Trace Elements Phase 1, Phase 2
15 histidine Nutraceutical Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 A 10-Week Study Evaluating the Efficacy And Safety of PD 0332334 for the Treatment of Generalized Anxiety Disorder Completed NCT00542685 Phase 3 PD 0332334;Placebo;PD 0332334;PD 0332334
2 A 10-week Study Evaluating the Efficacy and Safety of PD 0332334 for the Treatment of Generalized Anxiety Disorder (3) Terminated NCT00658762 Phase 3 PD 0332334;PD 0332334;paroxetine;Placebo
3 A 10-week Study Evaluating the Efficacy and Safety of PD 0332334 in Patients With Generalized Anxiety Disorder (1) Terminated NCT00658008 Phase 3 PD 0332334;PD 0332334;PD 0332334;Paroxetine;Placebo
4 A 10-week Study Evaluating the Efficacy and Safety of PD 0332334 in Patients With Generalized Anxiety Disorder (2) Terminated NCT00658372 Phase 3 PD 0332334;PD 0332334;Paroxetine;Placebo
5 Copper Histidine Therapy for Menkes Diseases Completed NCT00001262 Phase 1, Phase 2 Copper Histidine
6 Quality of Life Study in Patients With Breakthrough Cancer Pain Treated in Radiation Oncology Services With Palliative Intent Recruiting NCT02836379

Search NIH Clinical Center for Myelofibrosis with Myeloid Metaplasia, Somatic

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


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Stem-cell-based therapeutic approaches for Myelofibrosis with Myeloid Metaplasia, Somatic:
Peripheral blood-derived hematopoietic stem cells for treatment of myelofibrosis
Embryonic/Adult Cultured Cells Related to Myelofibrosis with Myeloid Metaplasia, Somatic:
Peripheral blood-derived hematopoietic stem cells (family)

Cochrane evidence based reviews: primary myelofibrosis

Genetic Tests for Myelofibrosis with Myeloid Metaplasia, Somatic

Genetic tests related to Myelofibrosis with Myeloid Metaplasia, Somatic:

id Genetic test Affiliating Genes
1 Myelofibrosis 29
2 Myelofibrosis, Somatic 24 MPL CALR JAK2 SH2B3

Anatomical Context for Myelofibrosis with Myeloid Metaplasia, Somatic

MalaCards organs/tissues related to Myelofibrosis with Myeloid Metaplasia, Somatic:

39
Bone, Myeloid, Bone Marrow, Liver, Spleen

Publications for Myelofibrosis with Myeloid Metaplasia, Somatic

Variations for Myelofibrosis with Myeloid Metaplasia, Somatic

UniProtKB/Swiss-Prot genetic disease variations for Myelofibrosis with Myeloid Metaplasia, Somatic:

71
id Symbol AA change Variation ID SNP ID
1 MPL p.Trp515Lys VAR_067560 rs121913616
2 MPL p.Trp515Leu VAR_067561 rs121913615

ClinVar genetic disease variations for Myelofibrosis with Myeloid Metaplasia, Somatic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MPL NM_005373.2(MPL): c.1514G> A (p.Ser505Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121913614 GRCh37 Chromosome 1, 43814979: 43814979
2 MPL NM_005373.2(MPL): c.1544G> T (p.Trp515Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913615 GRCh37 Chromosome 1, 43815009: 43815009
3 MPL NM_005373.2(MPL): c.1543_1544delTGinsAA (p.Trp515Lys) indel Pathogenic rs121913616 GRCh37 Chromosome 1, 43815008: 43815009
4 JAK2 NM_004972.3(JAK2): c.1849G> T (p.Val617Phe) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs77375493 GRCh37 Chromosome 9, 5073770: 5073770
5 SH2B3 NM_005475.2(SH2B3): c.603_607delGCGCT (p.Arg202Glnfs) deletion Pathogenic rs587776885 GRCh37 Chromosome 12, 111856552: 111856556
6 CALR NM_004343.3(CALR): c.1092_1143del52 (p.Leu367Thrfs) deletion Pathogenic GRCh37 Chromosome 19, 13054565: 13054616
7 ATG2B NC_000014.9: g.95696766_96390792dup694027 duplication Likely pathogenic GRCh37 Chromosome 14, 96163103: 96857129

Copy number variations for Myelofibrosis with Myeloid Metaplasia, Somatic from CNVD:

7 (show top 50) (show all 1783)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13799 1 1 5300000 Copy-Neutral LOH GABRD Myelofibrosis
2 13967 1 102000000 107000000 Amplification without LOH AMY2A Myelofibrosis
3 13968 1 102000000 107000000 Deletion without LOH COL11A1 Myelofibrosis
4 13969 1 102000000 107000000 Deletion without LOH PRMT6 Myelofibrosis
5 14306 1 107000000 111600000 Amplification without LOH GSTM1 Myelofibrosis
6 14307 1 107000000 111600000 Amplification without LOH GSTM5 Myelofibrosis
7 14308 1 107000000 111600000 Amplification without LOH KCNC4 Myelofibrosis
8 14310 1 107000000 111600000 Deletion without LOH FAM102B Myelofibrosis
9 14311 1 107000000 111600000 Deletion without LOH NBPF6 Myelofibrosis
10 14313 1 107000000 111600000 Deletion without LOH WDR47 Myelofibrosis
11 14960 1 111600000 115900000 Amplification without LOH KCND3 Myelofibrosis
12 14961 1 111600000 115900000 Amplification without LOH TRIM33 Myelofibrosis
13 14962 1 111600000 115900000 Deletion without LOH CTTNBP2NL Myelofibrosis
14 15472 1 115900000 117600000 Amplification without LOH ATP1A1 Myelofibrosis
15 15473 1 115900000 117600000 Amplification without LOH CASQ2 Myelofibrosis
16 15635 1 117600000 120700000 Deletion without LOH PHGDH Myelofibrosis
17 15636 1 117600000 120700000 Deletion without LOH VTCN1 Myelofibrosis
18 15637 1 117600000 120700000 Deletion without LOH ZNF697 Myelofibrosis
19 17279 1 142400000 148000000 Amplification without LOH NOTCH2NL Myelofibrosis
20 18948 1 148000000 149600000 Amplification without LOH LOC388692 Myelofibrosis
21 18949 1 148000000 149600000 Amplification without LOH NBPF16 Myelofibrosis
22 18952 1 148000000 149600000 Deletion without LOH FCGR1C Myelofibrosis
23 19322 1 149600000 153300000 Amplification without LOH LCE1D Myelofibrosis
24 19323 1 149600000 153300000 Amplification without LOH LCE3C Myelofibrosis
25 19324 1 149600000 153300000 Amplification without LOH POGZ Myelofibrosis
26 19325 1 149600000 153300000 Amplification without LOH THEM5 Myelofibrosis
27 20607 1 153300000 154800000 Amplification without LOH KCNN3 Myelofibrosis
28 20845 1 154800000 157300000 Amplification with LOH MIR555 Myelofibrosis
29 20846 1 154800000 157300000 Deletion without LOH LOC645676 Myelofibrosis
30 21201 1 157300000 158800000 Amplification without LOH OR6N2 Myelofibrosis
31 21202 1 157300000 158800000 Amplification without LOH OR6Y1 Myelofibrosis
32 21203 1 157300000 158800000 Deletion without LOH CD5L Myelofibrosis
33 21465 1 158800000 163800000 Amplification without LOH C1orf110 Myelofibrosis
34 21466 1 158800000 163800000 Amplification without LOH VSIG8 Myelofibrosis
35 21734 1 16100000 20300000 Amplification withou t LOH ARHGEF10L Myelofibrosis
36 21735 1 16100000 20300000 Amplification withou t LOH NBPF1 Myelofibrosis
37 21736 1 16100000 20300000 Amplification withou t LOH PAX7 Myelofibrosis
38 21737 1 16100000 20300000 Amplification withou t LOH RCC2 Myelofibrosis
39 21738 1 16100000 20300000 Amplification withou t LOH UQCRHL Myelofibrosis
40 21740 1 16100000 20300000 Copy-Neutral LOH ATP13A2 Myelofibrosis
41 21743 1 16100000 23800000 Copy-Neutral LOH MRTO4 Myelofibrosis
42 22129 1 165500000 169100000 Amplification without LOH LOC400794 Myelofibrosis
43 22130 1 165500000 169100000 Amplification without LOH MIR921 Myelofibrosis
44 22131 1 165500000 169100000 Deletion without LOH FMO9P Myelofibrosis
45 22825 1 169100000 171200000 Amplification without LOH NME7 Myelofibrosis
46 22829 1 169100000 171200000 Deletion without LOH KIFAP3 Myelofibrosis
47 23058 1 171200000 174300000 Amplification without LOH C1orf105 Myelofibrosis
48 23059 1 171200000 174300000 Deletion without LOH BAT2L2 Myelofibrosis
49 23060 1 171200000 174300000 Deletion without LOH DNM3 Myelofibrosis
50 23061 1 171200000 174300000 Deletion without LOH SLC9A11 Myelofibrosis

Expression for Myelofibrosis with Myeloid Metaplasia, Somatic

Search GEO for disease gene expression data for Myelofibrosis with Myeloid Metaplasia, Somatic.

Pathways for Myelofibrosis with Myeloid Metaplasia, Somatic

Pathways related to Myelofibrosis with Myeloid Metaplasia, Somatic according to GeneCards Suite gene sharing:

(show all 44)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 BMP6 FGF2 FLT3 IL3 JAK2 KIT
2
Show member pathways
13.72 BMP6 FGF2 FLT3 IL3 JAK2 KIT
3
Show member pathways
13.54 BMP6 FGF2 FLT3 IL3 KIT TGFB1
4
Show member pathways
13.48 BMP6 EPO FLT3 IFNA2 IL3 JAK2
5
Show member pathways
13.33 FGF2 FLT3 IFNA2 IL3 JAK2 KIT
6
Show member pathways
13.32 BMP6 FGF2 FLT3 IL3 KIT TGFB1
7
Show member pathways
13.32 BMP6 FGF2 FLT3 IL3 JAK2 KIT
8
Show member pathways
13.31 BMP6 EPO FGF2 FLT3 IFNA2 IL3
9
Show member pathways
13.29 BMP6 FGF2 IL3 JAK2 KIT TGFB1
10
Show member pathways
13.26 BMP6 FGF2 FLT3 IL3 KIT TGFB1
11
Show member pathways
13.18 CD177 GATA1 IFNA2 IL3 JAK2 MPL
12
Show member pathways
13.05 BMP6 FGF2 IL3 KIT TGFB1 THPO
13
Show member pathways
12.99 BMP6 FGF2 IL3 JAK2 KIT TGFB1
14
Show member pathways
12.69 BMP6 FGF2 IL3 TGFB1 THPO TIMP1
15 12.67 EPO FGF2 IFNA2 IL3 JAK2 KIT
16 12.66 FGF2 FLT3 KIT STAT5B TGFB1
17
Show member pathways
12.54 FGF2 FLT3 IL3 JAK2 KIT STAT5B
18 12.51 GATA1 IL3 JAK2 KIT MPL STAT5B
19
Show member pathways
12.31 FLT3 IL3 JAK2 STAT5B
20 12.15 GATA1 IFNA2 JAK2 SH2B3
21 12.09 FGF2 FLT3 JAK2 KIT
22 12.02 FGF2 GATA1 IL3 TGFB1 THPO
23 11.98 FGF2 JAK2 TGFB1 TIMP1
24
Show member pathways
11.94 EPO IFNA2 IL3 JAK2 MPL STAT5B
25
Show member pathways
11.89 EPO JAK2 SH2B3 STAT5B
26
Show member pathways
11.87 JAK2 STAT5B TGFB1
27 11.87 EPO IFNA2 IL3 JAK2 STAT5B
28 11.86 JAK2 STAT5B TGFB1
29 11.84 EPO FLT3 IL3 KIT THPO
30 11.81 BMP6 FGF2 KIT TGFB1 THPO
31 11.8 FGF2 TGFB1 TIMP1
32 11.76 FLT3 IFNA2 KIT TGFB1
33 11.71 BMP6 FGF2 IL3 TGFB1 THPO TIMP1
34
Show member pathways
11.71 EPO IL3 JAK2 KIT SH2B3 STAT5B
35 11.67 BMP6 FGF2 STAT5B TGFB1
36 11.65 FGF2 TGFB1 TIMP1
37 11.64 FGF2 FKBP5 TET2
38 11.56 FGF2 KIT TGFB1
39 11.51 EPO GATA1 IL3
40 11.4 EPO FGF2 IL3 KIT TGFB1
41 11.29 JAK2 MPL STAT5B THPO
42 11.29 EPO FLT3 IFNA2 IL3 KIT MPL
43 11.04 JAK2 STAT5B TIMP1
44 10.9 KIT SH2B3

GO Terms for Myelofibrosis with Myeloid Metaplasia, Somatic

Cellular components related to Myelofibrosis with Myeloid Metaplasia, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.61 BMP6 CALR EPO FGF2 IFNA2 IL3
2 extracellular space GO:0005615 9.32 BMP6 CALR EPO FGF2 IFNA2 IL3

Biological processes related to Myelofibrosis with Myeloid Metaplasia, Somatic according to GeneCards Suite gene sharing:

(show all 39)
id Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.96 BMP6 CALR FLT3 JAK2 TGFB1
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.91 EPO FGF2 TGFB1 THPO
3 MAPK cascade GO:0000165 9.91 FGF2 IL3 JAK2 KIT TGFB1
4 response to estradiol GO:0032355 9.85 CALR STAT5B TGFB1
5 blood coagulation GO:0007596 9.85 CD177 GATA1 IFNA2 JAK2 SH2B3
6 wound healing GO:0042060 9.83 FGF2 TGFB1 TIMP1
7 response to organic substance GO:0010033 9.83 CALR TGFB1 TIMP1
8 hemopoiesis GO:0030097 9.81 FLT3 KIT SH2B3
9 peptidyl-tyrosine phosphorylation GO:0018108 9.8 FGF2 FLT3 IL3 JAK2 KIT STAT5B
10 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.79 FLT3 JAK2 KIT
11 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.78 GATA1 IL3 JAK2 TGFB1
12 positive regulation of DNA replication GO:0045740 9.74 CALR EPO IL3
13 positive regulation of MAP kinase activity GO:0043406 9.73 FGF2 FLT3 KIT TGFB1
14 erythrocyte differentiation GO:0030218 9.71 EPO GATA1 JAK2 KIT
15 cytokine-mediated signaling pathway GO:0019221 9.7 FLT3 IFNA2 IL3 JAK2 KIT MPL
16 hyaluronan catabolic process GO:0030214 9.68 FGF2 TGFB1
17 cell activation GO:0001775 9.68 TGFB1 TIMP1
18 cellular response to thyroid hormone stimulus GO:0097067 9.67 GATA1 KIT
19 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.67 JAK2 STAT5B
20 myeloid cell differentiation GO:0030099 9.67 GATA1 TET2 THPO
21 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.67 FGF2 FLT3 KIT TGFB1
22 positive regulation of transcription regulatory region DNA binding GO:2000679 9.66 HMGA2 TGFB1
23 negative regulation of cell-cell adhesion GO:0022408 9.65 JAK2 TGFB1
24 positive regulation of SMAD protein import into nucleus GO:0060391 9.64 BMP6 TGFB1
25 dendritic cell differentiation GO:0097028 9.64 FLT3 GATA1
26 positive regulation of phospholipase C activity GO:0010863 9.62 FGF2 KIT
27 germ cell migration GO:0008354 9.62 KIT TGFB1
28 myeloid progenitor cell differentiation GO:0002318 9.59 FLT3 KIT
29 negative regulation of trophoblast cell migration GO:1901164 9.58 CALR TIMP1
30 embryonic hemopoiesis GO:0035162 9.56 GATA1 IL3 KIT SH2B3
31 erythropoietin-mediated signaling pathway GO:0038162 9.55 EPO KIT
32 negative regulation of intracellular steroid hormone receptor signaling pathway GO:0033144 9.54 CALR HMGA2
33 thrombopoietin-mediated signaling pathway GO:0038163 9.52 MPL THPO
34 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.43 EPO FLT3 IFNA2 IL3 JAK2 KIT
35 positive regulation of cell proliferation GO:0008284 9.32 CALR EPO FGF2 FLT3 IL3 JAK2
36 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.14 BMP6 FGF2 GATA1 HMGA2 STAT5B TET2
37 negative regulation of transcription from RNA polymerase II promoter GO:0000122 10.1 BMP6 CALR EPO GATA1 HMGA2 TGFB1
38 positive regulation of transcription, DNA-templated GO:0045893 10.05 EPO FGF2 GATA1 HMGA2 IFNA2 TGFB1
39 negative regulation of apoptotic process GO:0043066 10.04 EPO GATA1 HMGA2 STAT5B TIMP1

Molecular functions related to Myelofibrosis with Myeloid Metaplasia, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.63 FGF2 FLT3 IL3 JAK2 KIT STAT5B
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.56 FGF2 IL3 JAK2 KIT
3 growth factor activity GO:0008083 9.43 BMP6 FGF2 IL3 TGFB1 THPO TIMP1
4 glucocorticoid receptor binding GO:0035259 9.4 FLT3 STAT5B
5 C2H2 zinc finger domain binding GO:0070742 9.37 GATA1 HMGA2
6 cytokine activity GO:0005125 9.17 BMP6 FGF2 IFNA2 IL3 TGFB1 THPO
7 protein binding GO:0005515 10.25 CALR CD177 EPO FGF2 FKBP5 FLT3

Sources for Myelofibrosis with Myeloid Metaplasia, Somatic

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