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myelodysplastic syndrome

Disease Summary
Associated Targets (56)
Tbio

34

Tclin

12

Tchem

10


Explore Associated Targets
Mondo Description A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)
Uniprot Description A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML).
Disease Ontology Description A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.
Mondo Term and Equivalent IDs
MONDO:0018881:  myelodysplastic syndrome
COHD:138994: 
EFO:0000198: 
GARD:0007132: 
ICD9:238.75: 
NCIT:C3247: 
ONCOTREE:MDS: 
Orphanet:52688: 
SCTID:109995007: 
UMLS:C0033027: 
UMLS:C3463824: 
GWAS Targets (6)
Target
TDL
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Tbio
1
1
0
1.4
77.3
Tbio
1
1
0
1.4
77.3
Tbio
1
1
0
1.4
77.3
Tbio
1
1
0
5.9
50.7
Tbio
1
1
0
5.9
50.7
Target
TDL
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Tbio
0
1.4
77.3
Tbio
0
1.4
77.3
Tbio
0
1.4
77.3
Tbio
0
5.9
50.7
Tbio
0
5.9
50.7
Target Novelty (Tin-x)