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chronic myelogenous leukemia, BCR-ABL1 positive

Disease Summary
Associated Targets (43)
Tchem

19

Tbio

15

Tclin

9


Explore Associated Targets
Mondo Description A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival.
Uniprot Description A myeloproliferative disorder that shares clinical and laboratory features with chronic myeloid leukemia but lacks the pathognomonic Philadelphia chromosome and the corresponding BCR/ABL1 fusion transcript. Features include myeloid predominance in the bone marrow, myeloid proliferation and low leukocyte alkaline phosphatase value, splenomegaly, hepatomegaly, elevated white blood cell count. Enlarged spleen may also be associated with a hypermetabolic state, fever, weight loss, and chronic fatigue. The enlarged liver may contribute to the patient's weight loss.
Disease Ontology Description A myeloid leukemia that is characterized by over production of white blood cells.
Mondo Term and Equivalent IDs
MONDO:0011996:  chronic myelogenous leukemia, BCR-ABL1 positive
COHD:134603: 
EFO:0000339: 
GARD:0006105: 
NCIT:C3174: 
ONCOTREE:CML: 
Orphanet:521: 
UMLS:C0023473: 
GWAS Targets (1)
Target
TDL
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Tbio
1
1
0
1.9
30.5
Target
TDL
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Tbio
0
1.9
30.5
Target Novelty (Tin-x)