MDS
MCID: MYL040
MIFTS: 81

Myelodysplastic Syndromes (MDS) malady

Genetic diseases, Rare diseases, Cancer diseases categories
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Summaries for Myelodysplastic Syndromes

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MedlinePlus:33 Your bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. it contains immature cells, called stem cells. the stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting. if you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. many of them die in the bone marrow. this means that you do not have enough healthy cells, which can lead to infection, anemia, or easy bleeding. myelodysplastic syndromes often do not cause early symptoms and are sometimes found during a routine blood test. if you have symptoms, they may include shortness of breath weakness or feeling tired skin that is paler than usual easy bruising or bleeding pinpoint spots under the skin caused by bleeding fever or frequent infections myelodysplastic syndromes are rare. people at higher risk are over 60, have had chemotherapy or radiation therapy, or have been exposed to certain chemicals. treatment options include transfusions, drug therapy, chemotherapy, and blood or bone marrow stem cell transplants. nih: national cancer institute

MalaCards based summary: Myelodysplastic Syndromes, also known as myelodysplastic syndrome, is related to myeloid leukemia and refractory anemia. An important gene associated with Myelodysplastic Syndromes is GATA2 (GATA binding protein 2), and among its related pathways are G protein signaling K RAS regulation pathway and Paxillin-dependent events mediated by a4b1. The compounds erex and antithymoglobulin have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and bone marrow, and related mouse phenotypes are tumorigenesis and renal/urinary system.

Disease Ontology:8 A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.

NIH Rare Diseases:42 Myelodysplastic syndromes (mds) are a rare group of blood disorders characterized by abnormal development of blood cells within the bone marrow. individuals with mds have abnormally low blood cell levels (low blood counts). signs and symptoms associated with mds include dizziness, fatigue, weakness, shortness of breath, bruising and bleeding, frequent infections, and headaches. in some cases, mds may progress to bone marrow failure or an acute leukemia. the exact cause of mds is unknown. it sometimes runs in families, but no disease-causing gene has been identified. treatment depends on the affected individual's age, general health, and type of mds and may include red cell and/or platelet transfusions and antibiotics. last updated: 3/23/2012

Wikipedia:65 The myelodysplastic syndromes (also known as MDS or myelodysplasia) are hematological (blood-related)... more...

Description from OMIM:46 614286

Aliases & Classifications for Myelodysplastic Syndromes

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Myelodysplastic Syndromes, Aliases & Descriptions:

Name: Myelodysplastic Syndromes 30 42 44 33
Myelodysplastic Syndrome 8 22 46 62
 
Dysmyelopoietic Syndromes 62
Mds 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases


External Ids:

Disease Ontology8 DOID:0050908
MeSH34 D009190
ICD1025 D46, D46.6, D46.9

Related Diseases for Myelodysplastic Syndromes

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

(show top 50)    (show all 409)
idRelated DiseaseScoreTop Affiliating Genes
1myeloid leukemia31.7MNDA, MPL, IL3, DNTT, CSF2, CSF3
2refractory anemia31.7CDKN2B, CSF3, CSF2, IL3, FTMT, EPO
3leukemia31.6CD33, CDKN2B, CDKN2C, GATA2, NRAS, CSF3
4juvenile myelomonocytic leukemia31.5CSF2, NRAS
5myelofibrosis31.5EPO, MPL
6aplastic anemia31.5MPL, EPO, IL3, CSF2, CSF3, GATA2
7pulmonary alveolar proteinosis31.4IL3, CSF2
8pancytopenia31.4MPL, EPO, IL3, CSF2, CSF3
95q- syndrome31.3EPO
10thrombocytopenia31.3CSF3, CSF2, IL3, EPO, MPL
11neutropenia31.2MPL, EPOR, EPO, IL3, CSF2, CSF3
12graft versus host disease31.2CSF3, CSF2, IL3
13thrombocytosis31.1EPO, EPOR, MPL, ASXL1, IL3, CSF2
14splenomegaly31.0MPL, EPO, CSF3
15myeloma31.0EPO, EPOR, ANG, IL3, DNTT, CD33
16acute leukemia31.0DNTT, IL3, EPO, EPOR, MPL, CD33
17hodgkin's lymphoma30.9IL3, CSF2, CSF3, CDKN2C
18polycythemia vera30.8MPL, EPOR, EPO, ASXL1, IL3
19lymphoblastic lymphoma30.7CDKN2B, DNTT
20acute promyelocytic leukemia30.7IL3, DNTT, CSF3, NRAS, GATA2, CD33
21cyclic hematopoiesis30.7CSF3, CSF2, IL3
22severe congenital neutropenia autosomal recessive 330.7CSF3, CSF2, IL3
23leukemoid reaction30.7IL3, CSF2, CSF3
24severe congenital neutropenia30.7IL3, CSF2, CSF3
25polycythemia30.6IL3, EPO, EPOR, MPL
26ovarian cancer30.6ANG, IL3, CSF2, CSF3, NRAS, CDKN2C
27lung cancer30.6CDKN2B, CDKN2C, CSF3, CSF2, DNTT
28diamond-blackfan anemia30.6EPO, IL3
29breast cancer30.5CDKN2C, GATA2, NRAS, CSF3, CSF2, EPOR
30chronic lymphocytic leukemia30.5CDKN2B, CSF2, DNTT
31acute erythroid leukemia30.5MPL, EPOR, EPO, IL3, DNTT, CSF2
32non-hodgkin lymphoma30.5IL3, DNTT, CSF2, CSF3, CDKN2C, CDKN2B
33acute lymphoblastic leukemia30.4CD33, CDKN2B, CDKN2C, GATA2, CSF3, CSF2
34melanoma30.3MNDA, EPOR, ANG, FTMT, CSF2, NRAS
35acute myeloid leukemia11.1
36chronic myelomonocytic leukemia10.7
37hematopoietic stem cell transplantation10.6
38relapsing polychondritis10.6
39muscular dystrophy10.6
40acquired polycythemia10.5EPOR, EPO
41congenital amegakaryocytic thrombocytopenia10.5MPL, IL3
42capillary leak syndrome10.5CSF2
43adult acute lymphocytic leukemia10.5CDKN2B
44hemorrhagic thrombocythemia10.5MPL, EPO, IL3
45felty's syndrome10.5IL3, CSF2, CSF3
46primary polycythemia10.5EPO, EPOR
47megakaryocytic leukemia10.5CSF2, IL3, EPOR
48leukemia, acute nonlymphocytic10.5IL3, DNTT, CD33
49paroxysmal nocturnal hemoglobinuria10.5
50hemoglobinuria10.5

Graphical network of the top 20 diseases related to Myelodysplastic Syndromes:



Diseases related to myelodysplastic syndromes

Symptoms for Myelodysplastic Syndromes

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Clinical features from OMIM:

614286

Drugs & Therapeutics for Myelodysplastic Syndromes

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Genetic Tests for Myelodysplastic Syndromes

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Genetic tests related to Myelodysplastic Syndromes:

id Genetic test Affiliating Genes
1 Myelodysplastic Syndrome22

Anatomical Context for Myelodysplastic Syndromes

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MalaCards organs/tissues related to Myelodysplastic Syndromes:

32
Myeloid, Bone, Bone marrow, Testes, Skin, T cells, Neutrophil, Monocytes, Breast, Lung, Endothelial, Liver, B cells, Spleen, Brain, Spinal cord, Heart, Colon, Kidney, Thyroid, Ovary, Prostate, Nk cells

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Myelodysplastic Syndromes:
id TissueAnatomical CompartmentCell Relevance
1 PlacentaChorionic VillusChorionic Mesenchymal Stromal Cells Potential therapeutic candidate
2 BloodCord BloodMesenchymal Stem Cells Potential therapeutic candidate
3 Umbilical CordWharton's JellyMesenchymal Stem Cells Potential therapeutic candidate

Animal Models for Myelodysplastic Syndromes or affiliated genes

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Publications for Myelodysplastic Syndromes

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Articles related to Myelodysplastic Syndromes:

(show top 50)    (show all 1878)
idTitleAuthorsYear
1
Patient-reported outcomes for the myelodysplastic syndromes: a new MDS-specific measure of quality of life. (24434998)
2014
2
Positive impact of chronic graft-versus-host disease on the outcome of patients with de novo myelodysplastic syndrome after allogeneic hematopoietic cell transplantation: a single-center analysis of 115 patients. (24127668)
2013
3
NRAS mutations with low allele burden have independent prognostic significance for patients with lower risk myelodysplastic syndromes. (23708912)
2013
4
Iron overload impairs proliferation of erythroid progenitors cells (BFU-E) from patients with myelodysplastic syndromes. (23259989)
2013
5
Fatal Nocardia farcinica Bacteremia Diagnosed by Matrix-Assisted Laser Desorption-Ionization Time of Flight Mass Spectrometry in a Patient with Myelodysplastic Syndrome Treated with Corticosteroids. (23690786)
2013
6
Evolution of chronic myelomonocytic leukemia from refractory anemia: the unusual course of a myelodysplastic syndrome. (23826588)
2013
7
Prognostic impact of the number of methylated genes in myelodysplastic syndromes and acute myeloid leukemias treated with azacytidine. (23740492)
2013
8
Arsenic disulfide-triggered apoptosis and erythroid differentiation in myelodysplastic syndrome and acute myeloid leukemia cell lines. (24192507)
2013
9
Localization of the NRAS:BCL-2 complex determines anti-apoptotic features associated with progressive disease in myelodysplastic syndromes. (23153525)
2013
10
Large-vessel thrombosis in intestinal BehAset's disease complicated with myelodysplastic syndrome and trisomy 8. (22416191)
2012
11
Does addition of erythropoiesis stimulating agents improve the outcome of higher-risk myelodysplastic syndromes treated with azacitidine? (22177456)
2012
12
Evaluation of flow cytometric assessment of myeloid nuclear differentiation antigen expression as a diagnostic marker for myelodysplastic syndromes in a series of 269 patients. (22508616)
2012
13
Characterization of NPM1-mutated AML with a history of myelodysplastic syndromes or myeloproliferative neoplasms. (21233837)
2011
14
Myelodysplastic syndromes. (22118747)
2011
15
Microarray-based comparative genomic hybridization of cancer targets reveals novel, recurrent genetic aberrations in the myelodysplastic syndromes. (22200086)
2011
16
Possible role of engraftment syndrome and autologous graft-versus-host disease in myelodysplastic syndrome after autologous stem cell transplantations: retrospective analysis and review of the literature. (20371446)
2010
17
Single nucleotide polymorphisms in the human TNF gene are associated with anaemia and neutropenia in a cohort of patients with de novo myelodysplastic syndrome. (20618340)
2010
18
Epigenetic inactivation of tumour suppressor gene KLF11 in myelodysplastic syndromes*. (20002157)
2010
19
Mutation analysis of the HAX1 gene in childhood myelodysplastic syndrome. (19298594)
2009
20
Update on genetic and molecular markers associated with myelodysplastic syndromes. (19263296)
2009
21
Expression of cyclin A1 mRNA in patients with myelodysplastic syndrome and its clinical significance]. (19379570)
2009
22
Predictive factors of response and survival in myelodysplastic syndrome treated with erythropoietin and G-CSF: the GFM experience. (17940203)
2008
23
Prospective tracing of MLL-FRYL clone with low MEIS1 expression from emergence during neuroblastoma treatment to diagnosis of myelodysplastic syndrome. (18195096)
2008
24
Aberrant pre-mRNA splicing of a highly conserved cell cycle regulator, CDC25C, in myelodysplastic syndromes. (18464119)
2008
25
Methylation status of fragile histidine triad (FHIT) gene and its clinical impact on prognosis of patients with myelodysplastic syndrome. (18367246)
2008
26
GATA-1 transcription factor is up-regulated in bone marrow hematopoietic progenitor CD34(+) and erythroid CD71(+) cells in myelodysplastic syndromes. (17570514)
2007
27
A comparative study of molecular mutations in 381 patients with myelodysplastic syndrome and in 4130 patients with acute myeloid leukemia. (17550846)
2007
28
A case of myelodysplastic syndrome complicated with organizing pneumonia]. (17233390)
2006
29
WT1 gene expression lowered by IL-12 In vitro in peripheral blood mononuclear cells from patients with leukemia or myelodysplastic syndromes. (16800930)
2006
30
Serum evaluation of angiogenic cytokine basic fibroblast growth factor, hepatocyte growth factor and TNF-alpha in patients with myelodysplastic syndromes: correlation with bone marrow microvascular density. (15888251)
2005
31
Acute myeloid leukemia cell lines MOLM-17 and MOLM-18 derived from patient with advanced myelodysplastic syndromes. (15863212)
2005
32
The geldanamycin derivative 17-AAG decreases VEGF secretion and leukemia growth support by trisomy 8 myelodysplastic syndrome bone marrow stromal cells. (15804996)
2005
33
Hypochromic red blood cells in low-risk myelodysplastic syndromes: effects of treatment with hemopoietic growth factors. (15590394)
2004
34
Survivin expression in acute leukemias and myelodysplastic syndromes. (15512811)
2004
35
Cord blood transplantation supported with ex vivo expanded fraction for a patient with myelodysplastic syndrome and metastatic breast cancer]. (15510834)
2004
36
Gene expression profiling in the myelodysplastic syndromes using cDNA microarray technology. (15147372)
2004
37
Expression of TNF receptors and related signaling molecules in the bone marrow from patients with myelodysplastic syndromes. (12681357)
2003
38
Efficacy and toxicity of low-dose melphalan in myelodysplastic syndromes and acute myeloid leukemia with multilineage dysplasia. (12937849)
2003
39
Secondary pulmonary alveolar proteinosis associated with myelodysplastic syndrome. (12636240)
2003
40
Expression of the anti-apoptotic gene survivin in myelodysplastic syndrome. (12469185)
2003
41
Mutations in the gene encoding the transcription factor CCAAT/enhancer binding protein alpha in myelodysplastic syndromes and acute myeloid leukemias. (11830484)
2002
42
Cellular abundance of es nucleoside transporters and differential drug toxicity in myelodysplastic syndrome (MDS) bone marrow cell subpopulations. (11794010)
2001
43
An elderly patient with myelodysplastic syndrome successfully treated with combination of granulocyte-colony stimulating factor and continuous-drip infusion of low-dose cytarabine and etoposide]. (10774251)
2000
44
Expression of the multidrug resistance-associated protein in myelodysplastic syndromes. (10997969)
2000
45
Treatment of patients with low-risk myelodysplastic syndromes using a combination of all-trans retinoic acid, interferon alpha, and granulocyte colony-stimulating factor. (10211754)
1999
46
Molecular heterogeneity of the NUP98/HOXA9 fusion transcript in myelodysplastic syndromes associated with t(7;11)(p15;p15). (10583265)
1999
47
Hemoglobin F in myelodysplastic syndrome. (9619730)
1998
48
Treatment with cytosine arabinoside and granulocyte colony-stimulating factor in patients with myelodysplastic syndrome and its leukemic phase. (7532031)
1994
49
Response of hematopoietic precursor cells to hematopoietic growth factors in the myelodysplastic syndromes. (2099409)
1990
50
Translocation t(6;9)(p22.3;q34) in myelodysplastic syndrome--refractory anemia with excess blasts. (3664444)
1987

Variations for Myelodysplastic Syndromes

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UniProtKB/Swiss-Prot genetic disease variations for Myelodysplastic Syndromes:

64
id Symbol AA change Variation ID SNP ID
1GATA2p.Thr354MetVAR_066406
2SETBP1p.Asp868AsnVAR_063807
3SETBP1p.Gly870SerVAR_063809
4SETBP1p.Ser869AsnVAR_069852
5SETBP1p.Thr873ArgVAR_069857

Clinvar genetic disease variations for Myelodysplastic Syndromes:

6
id Gene Name Type Significance SNP ID Assembly Location
1GATA2NM_001145661.1(GATA2): c.1061C> T (p.Thr354Met)single nucleotide variantPathogenicrs387906631GRCh37Chr 3, 128200744: 128200744
2GATA2GATA2, 3-BP DEL, 1063ACAdeletionrisk factor
3MT-TL1m.3242G> Asingle nucleotide variantPathogenicrs199474668GRCh37Chr MT, 3242: 3242

Expression for genes affiliated with Myelodysplastic Syndromes

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Expression patterns in normal tissues for genes affiliated with Myelodysplastic Syndromes

Search GEO for disease gene expression data for Myelodysplastic Syndromes.

Pathways for genes affiliated with Myelodysplastic Syndromes

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Pathways related to Myelodysplastic Syndromes according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3EPO, EPOR
2
Show member pathways
Paxillin-independent events mediated by a4b1 and a4b737
a4b1 and a4b7 Integrin signaling37
10.3EPOR, EPO
310.2CSF3, CSF2
410.1MNDA, GATA2, IL3
510.1CSF2, CDKN2C, IL3
6
Show member pathways
10.1IL3, NRAS, CSF2
7
Show member pathways
Signaling Pathways in Glioblastoma37
10.1NRAS, CDKN2B, CDKN2C
810.0NRAS, CDKN2B, CDKN2C, CSF2
9
Show member pathways
9.9MPL, EPOR, EPO, IL3, NRAS
10
Show member pathways
9.9EPOR, NRAS, CDKN2C, CDKN2B, IL3
119.9CSF3, IL3, EPO, EPOR, NRAS
12
Show member pathways
9.8CSF3, CSF2, NRAS, EPOR, IL3
13
Show member pathways
Type III interferon signaling37
9.8MPL, IL3, EPO, EPOR, CSF3, CSF2
14
Show member pathways
9.6EPOR, EPO, IL3, CSF2, CSF3, NRAS
15
Show member pathways
9.6EPOR, IL3, CSF2, CDKN2B, CDKN2C, NRAS
169.6EPO, EPOR, DNTT, CSF2, CSF3, CD33

Compounds for genes affiliated with Myelodysplastic Syndromes

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Compounds related to Myelodysplastic Syndromes according to GeneCards/GeneDecks:

(show top 50)    (show all 93)
idCompoundScoreTop Affiliating Genes
1erex4410.6EPO, EPOR
2antithymoglobulin4410.6CSF3, EPO
3bmmp4410.6IL3, CSF2
4lenograstim4410.6CSF3, IL3
5mps-l4410.6CSF3, EPO
6metenolone acetate4410.5EPO, CSF3
7nesp4410.5EPO, EPOR
8il 114410.5EPO, CSF3, IL3
9anagrelide44 1111.5MPL, EPO, CSF2
10molgramostim4410.5CSF2, CSF3, IL3
11mesna4410.5CSF2, CSF3, IL3
12thiotepa44 50 1112.5CSF3, CSF2, IL3
13mafosfamide4410.5CSF2, IL3, CSF3
14ara-ctp4410.5IL3, CSF2, CSF3
15romurtide4410.5CSF3, CSF2
164-hydroperoxycyclophosphamide4410.5IL3, CSF2, CSF3
17daniplestim4410.5IL3, CSF3
18lenalidomide44 1111.5EPO, IL3, CSF3, EPOR
19idarubicin50 44 1112.4CSF2, CSF3, IL3
20pegfilgrastim44 1111.4EPO, CSF2, IL3, CSF3
21pixy3214410.4EPO, CSF3, IL3, CSF2
22amifostine44 1111.4CSF2, IL3, EPO, CSF3
23filgrastim44 1111.4EPO, CSF2, CSF3, IL3
24gm-csf44 2811.4IL3, EPO, CSF2, CSF3
25ribavirin44 50 1112.4CSF3, CSF2, EPO, IL3
26cytoxan4410.4IL3, CSF3
27melphalan44 50 1112.4CSF2, CSF3, EPO, IL3
28zidovudine44 50 1112.4EPO, IL3, CSF2, CSF3
29ifosfamide44 1111.3IL3, CSF2, CSF3
30carboxymethylcellulose4410.3CSF3, EPO
31mitoxantrone44 50 1112.3CSF3, CSF2, IL3
32mycophenolate mofetil44 50 1112.3IL3, EPO, CSF3
33cytarabine44 50 1112.3EPO, CDKN2B, CSF3, CSF2, IL3
34leucovorin44 50 1112.3CSF3, CSF2, IL3
35carboplatin44 50 1112.3DNTT, EPO, IL3, CSF2, CSF3
36butyrate4410.3EPO, IL3, CSF2, DNTT, GATA2
37agar4410.3EPOR, IL3, CSF2, NRAS, MPL
38methylcellulose4410.2GATA2, IL3, CSF2, CSF3, EPO, EPOR
39gp 1304410.2MPL, EPO, EPOR, IL3, CSF2, CSF3
40endotoxin4410.2FTMT, MNDA, CSF2, CSF3
41hydroxyurea44 50 1112.2DNTT, GATA2, EPO, CSF2, IL3, CSF3
42cisplatin44 50 61 1113.1CSF3, DNTT, IL3, EPO, EPOR, CSF2
43vegf4410.1MPL, EPOR, EPO, CSF2, ANG, CSF3
44methotrexate50 44 1112.0DNTT, CSF3, EPO, CDKN2B
45thymidine44 2411.0CSF2, CD33, CSF3, DNTT, IL3, EPO
465fluorouracil4410.0MPL, IL3, CSF2, CSF3
47fludarabine44 50 1111.9CSF3, CSF2, DNTT
48n-formylmethionyl-leucylphenylalanine449.8CSF3, IL3, CSF2
49retinoic acid44 2410.7CSF2, CDKN2B, GATA2, CSF3, IL3, DNTT
50tyrosine449.7CSF3, EPOR, EPO, ANG, IL3, MPL

GO Terms for genes affiliated with Myelodysplastic Syndromes

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Cellular components related to Myelodysplastic Syndromes according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056159.9CSF3, CSF2, IL3, ANG, EPO

Biological processes related to Myelodysplastic Syndromes according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1embryonic placenta developmentGO:00189210.3GATA2, CSF2
2positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.2CSF2, IL3, EPO
3positive regulation of DNA replicationGO:04574010.1EPO, IL3, CSF2
4negative regulation of protein serine/threonine kinase activityGO:07190110.1CDKN2B, CDKN2C
5negative regulation of phosphorylationGO:0423269.9CDKN2B, CDKN2C
6positive regulation of cell proliferationGO:0082849.9NRAS, EPO, FTMT, IL3, CSF2, CSF3

Molecular functions related to Myelodysplastic Syndromes according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cyclin-dependent protein serine/threonine kinase inhibitor activityGO:00486110.1CDKN2B, CDKN2C
2cytokine activityGO:00512510.1CSF3, CSF2, IL3
3growth factor activityGO:0080839.8CSF3, CSF2, IL3

Products for genes affiliated with Myelodysplastic Syndromes

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Sources for Myelodysplastic Syndromes

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