Leukemia, Chronic Myeloid (CML)

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

Aliases & Classifications for Leukemia, Chronic Myeloid

MalaCards integrated aliases for Leukemia, Chronic Myeloid:

Name: Leukemia, Chronic Myeloid 57 20 72 13 37
Chronic Myeloid Leukemia 12 20 43 58 36 6 42 15
Chronic Myelogenous Leukemia 12 73 20 43 58 72 17
Cml 57 12 20 43 58 72
Chronic Granulocytic Leukemia 12 20 43 58
Leukemia, Philadelphia Chromosome-Positive, Resistant to Imatinib 57 6
Chronic Myeloid Leukaemia 12 15
Myeloid Leukemia, Chronic 12 70
Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic 57
Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative 70
Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative 72
Leukemia, Myelogenous, Chronic, Bcr-Abl Positive 44
Leukemia, Chronic Myeloid, Atypical 72
Cml - Chronic Myelogenous Leukemia 12
Chronic Granulocytic Leukaemia 12
Leukemia, Chronic Myelogenous 57
Chronic Myelogenous Leukaemia 12
Chronic Myelocytic Leukemia 43
Leukemia, Myeloid, Chronic 39
Myeloid Leukemia Chronic 54
Acml 72
Cgl 43


Orphanet epidemiological data:

chronic myeloid leukemia
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (France),1-9/100000 (United States); Age of onset: Adult;


57 (Updated 05-Apr-2021)
somatic mutation


leukemia, chronic myeloid:
Inheritance somatic mutation


Orphanet: 58  
Rare haematological diseases

External Ids:

Disease Ontology 12 DOID:8552
OMIM® 57 608232
KEGG 36 H00004
ICD9CM 34 205.1
MeSH 44 D015464
SNOMED-CT 67 154592009
ICD10 via Orphanet 33 C92.1
UMLS via Orphanet 71 C0023473
Orphanet 58 ORPHA521
UMLS 70 C0023473 C1292772

Summaries for Leukemia, Chronic Myeloid

MedlinePlus : 42 What is leukemia? Leukemia is a term for cancers of the blood cells. Leukemia starts in blood-forming tissues such as the bone marrow. Your bone marrow makes the cells which will develop into white blood cells, red blood cells, and platelets. Each type of cell has a different job: White blood cells help your body fight infection Red blood cells deliver oxygen from your lungs to your tissues and organs Platelets help form clots to stop bleeding When you have leukemia, your bone marrow makes large numbers of abnormal cells. This problem most often happens with white blood cells. These abnormal cells build up in your bone marrow and blood. They crowd out the healthy blood cells and make it hard for your cells and blood to do their work. What is chronic myeloid leukemia (CML)? Chronic myeloid leukemia (CML) is a type of chronic leukemia. "Chronic" means that the leukemia usually gets worse slowly. In CML, the bone marrow makes abnormal granulocytes (a type of white blood cell). These abnormal cells are also called blasts. When the abnormal cells crowd out the healthy cells, it can lead to infection, anemia, and easy bleeding. The abnormal cells can also spread outside the blood to other parts of the body. CML usually occurs in adults during or after middle age. It is rare in children. What causes chronic myeloid leukemia (CML)? Most people with CML have a genetic change called the Philadelphia chromosome. It's called that because researchers in Philadelphia discovered it. People normally have 23 pairs of chromosomes in each cell. These chromosomes contain your DNA (genetic material). In CML, part of the DNA from one chromosome moves to another chromosome. It combines with some DNA there, which creates a new gene called BCR-ABL. This gene causes your bone marrow to make an abnormal protein. This protein allows the leukemia cells to grow out of control. The Philadelphia chromosome isn't passed from parent to child. It happens during your lifetime. The cause is unknown. Who is at risk for chronic myeloid leukemia (CML)? It is hard to predict who will get CML. There are a few factors that could raise your risk: Age - your risk goes up as you get older Gender - CML is slightly more common in men Exposure to high-dose radiation What are the symptoms of chronic myeloid leukemia (CML)? Sometimes CML does not cause symptoms. If you do have symptoms, they can include Feeling very tired Weight loss for no known reason Drenching night sweats Fever Pain or a feeling of fullness below the ribs on the left side How is chronic myeloid leukemia (CML) diagnosed? Your health care provider may use many tools to diagnose CML: A physical exam A medical history Blood tests, such as a complete blood count (CBC) with differential and blood chemistry tests. Blood chemistry tests measure different substances in the blood, including electrolytes, fats, proteins, glucose (sugar), and enzymes. Specific blood chemistry tests include a basic metabolic panel (BMP), a comprehensive metabolic panel (CMP), kidney function tests, liver function tests, and an electrolyte panel. Bone marrow tests. There are two main types - bone marrow aspiration and bone marrow biopsy. Both tests involve removing a sample of bone marrow and bone. The samples are sent to a lab for testing. Genetic tests to look for gene and chromosome changes, including tests to look for the Philadelphia chromosome If you are diagnosed with CML, you may have additional tests such as imaging tests to see whether the cancer has spread. What are the phases of chronic myeloid leukemia (CML)? CML has three phases. The phases are based on how much the CML has grown or spread: Chronic phase, where less than 10% of cells in the blood and bone marrow are blast cells (leukemia cells). Most people are diagnosed in this phase, and many do not have symptoms. Standard treatment usually helps in this phase. Accelerated phase, 10% to 19% of the cells in the blood and bone marrow are blast cells. In this phase, people often have symptoms and standard treatment may not be as effective as in the chronic phase. Blastic phase, where 20% or more of the cells in the blood or bone marrow are blast cells. The blast cells have spread to other tissues and organs. If you have tiredness, fever, and an enlarged spleen during the blastic phase, it is called a blast crisis. This phase is harder to treat. What are the treatments for chronic myeloid leukemia (CML)? There are several different treatments for CML: Targeted therapy, which uses drugs or other substances that attack specific cancer cells with less harm to normal cells. For CML, the drugs are tyrosine kinase inhibitors (TKIs). They block tyrosine kinase, which is an enzyme that causes your bone marrow to make too many blasts. Chemotherapy Immunotherapy High-dose chemotherapy with stem cell transplant Donor lymphocyte infusion (DLI). DLI is a treatment that may be used after a stem cell transplant. It involves giving you an infusion (into your bloodstream) of healthy lymphocytes from the stem cell transplant donor. Lymphocytes are a type of white blood cell. These donor lymphocytes may kill the remaining cancer cells. Surgery to remove the spleen (splenectomy) Which treatments you get will depend on which phase you are in, your age, your overall health, and other factors. When the signs and symptoms of CML are reduced or have disappeared, it is called remission. The CML may come back after remission, and you may need more treatment. NIH: National Cancer Institute

MalaCards based summary : Leukemia, Chronic Myeloid, also known as chronic myeloid leukemia, is related to atypical chronic myeloid leukemia and leukemia, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Leukemia, Chronic Myeloid is ABL1 (ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase), and among its related pathways/superpathways are Chronic myeloid leukemia and Endometrial cancer. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone marrow and bone, and related phenotypes are myeloproliferative disorder and splenomegaly

Disease Ontology : 12 A myeloid leukemia that is characterized by over production of white blood cells.

MedlinePlus Genetics : 43 Chronic myeloid leukemia is a slow-growing cancer of the blood-forming tissue (bone marrow). Normal bone marrow produces red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. In chronic myeloid leukemia, the bone marrow produces too many white blood cells. Initially, these cells function relatively normally. However, as the condition progresses, immature white blood cells called myeloblasts (or blasts) accumulate in the blood and bone marrow. The overgrowth of myeloblasts impairs development of other blood cells, leading to a shortage of red blood cells (anemia) and platelets.Chronic myeloid leukemia usually begins after age 60. Common features include excessive tiredness (fatigue), fever, and weight loss. Many affected individuals develop an enlarged spleen (splenomegaly), which can cause a feeling of fullness in the abdomen and a loss of appetite. About half of people with chronic myeloid leukemia do not initially have any signs and symptoms and are diagnosed when a blood test is performed for another reason.The condition consists of three phases: the chronic phase, the accelerated phase, and the blast phase (or blast crisis). In the chronic phase, the number of mature white blood cells is elevated, and myeloblasts account for less than 10 percent of blood cells. Signs and symptoms of the condition during this phase are typically mild or absent and worsen slowly. The chronic phase can last from months to years. In the accelerated phase, the number of myeloblasts is slightly higher, making up 10 to 29 percent of blood cells. The signs and symptoms continue to worsen. The accelerated phase usually lasts 4 to 6 months, although it is skipped in some affected individuals. In blast crisis, 30 percent or more of blood or bone marrow cells are myeloblasts. Signs and symptoms are most severe in this phase, including a massively enlarged spleen, bone pain, and weight loss. Serious infections and uncontrolled bleeding can be life-threatening.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 521 Definition Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases. Epidemiology Its annual incidence has been estimated at between 1 and 1.5 cases per 100,000 and its prevalence at around 1 in 17,000. Clinical description The disease is typically triphasic with a chronic phase (CML-CP), accelerated phase (CML-AP) and blast phase (CML-BP). The majority of patients are diagnosed in the chronic phase and may be either asymptomatic (diagnosed through a routine white blood cell count) or present with fatigue, anaemia, weight loss, night sweats or splenomegaly. Etiology CML is characterised by the presence of the Philadelphia chromosome, an abnormality resulting from a balanced translocation between chromosomes 9 and 22 (t(9;22)(q34;q11.2)). This translocation generates a BCR/ABL gene fusion encoding a constitutively active tyrosine kinase. CML does not appear to be an inherited disease and the factors leading to predisposition for the disorder remain largely unknown. Management and treatment Although an allogeneic bone marrow transplant is viewed as the only curative treatment option, the prognosis for patients improved dramatically with the targeted development of imatinib mesylate. Imatinib mesylate is a competitive inhibitor of BCR/ABL tyrosine kinase activity and has held EU marketing authorisation as an Orphan drug for the treatment of CML since 2001.

KEGG : 36 Chronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (CP), which is characterized by expansion of functionally normal myeloid cells, followed by an accelerated phase (AP) and finally a more aggressive blast phase (BP), with loss of terminal differentiation capacity. On the cellular level, CML is associated with a specific chromosome abnormality, the t(9; 22) reciprocal translocation that forms the Philadelphia (Ph) chromosome. The Ph chromosome is the result of a molecular rearrangement between the c-ABL proto-oncogene on chromosome 9 and the BCR (breakpoint cluster region) gene on chromosome 22. The BCR/ABL fusion gene encodes p210 BCR/ABL, an oncoprotein, which, unlike the normal p145 c-Abl, has constitutive tyrosine kinase activity and is predominantly localized in the cytoplasm. While fusion of c-ABL and BCR is believed to be the primary cause of the chronic phase of CML, progression to blast crisis requires other molecular changes. Common secondary abnormalities include mutations in TP53, RB, and p16/INK4A, or overexpression of genes such as EVI1. Additional chromosome translocations are also observed,such as t(3;21)(q26;q22), which generates AML1-EVI1.

UniProtKB/Swiss-Prot : 72 Leukemia, chronic myeloid: A clonal myeloproliferative disorder of a pluripotent stem cell with a specific cytogenetic abnormality, the Philadelphia chromosome (Ph), involving myeloid, erythroid, megakaryocytic, B-lymphoid, and sometimes T-lymphoid cells, but not marrow fibroblasts.
Leukemia, chronic myeloid, atypical: 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.

Wikipedia : 73 Chronic myelogenous leukemia (CML), also known as chronic myeloid leukemia, is a cancer of the white... more...

More information from OMIM: 608232

Related Diseases for Leukemia, Chronic Myeloid

Diseases in the Myeloid Leukemia family:

Leukemia, Acute Myeloid Leukemia, Chronic Myeloid
Subacute Myeloid Leukemia Acute Myeloid Leukemia with T(9;11)(p22;q23)
Acute Myeloid Leukemia with T(6;9)(p23;q34) Acute Myeloid Leukemia with T(9;22)(q34.1;q11.2)

Diseases related to Leukemia, Chronic Myeloid via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 938)
# Related Disease Score Top Affiliating Genes
1 atypical chronic myeloid leukemia 33.3 SETBP1 RUNX1 CSF3R ABL1
3 philadelphia-negative chronic myeloid leukemia 33.0 BCR ABL1
4 myelodysplastic/myeloproliferative neoplasm 32.9 SETBP1 NRAS KIT CSF3R ABL1
5 polycythemia vera 32.9 KIT IFNA1 H19 ABL1
6 leukemia, acute myeloid 32.9 UCA1 SETBP1 RUNX1 NRAS MIR223 MIR17
7 juvenile myelomonocytic leukemia 32.8 SETBP1 RUNX1 NRAS BRAF
8 myelofibrosis 32.4 SETBP1 RUNX1 MIR223 MEG3 KIT IFNA1
9 myeloma, multiple 32.1 UCA1 NRAS MIR17 MEG3 KIT HOTAIR
10 essential thrombocythemia 32.1 MIR223 KIT IFNA1 BCR ABL1
11 chronic leukemia 32.0 SETBP1 KIT CSF3R BCR ABL1
12 sarcoma 32.0 NRAS KIT IFNA1 HOTAIR BRAF
13 hematologic cancer 31.9 RUNX1 MIR223 MIR20A MIR17 KIT BCR
14 myeloproliferative neoplasm 31.9 RUNX1 NRAS MIR17 MIR10A KIT IFNA1
15 chronic neutrophilic leukemia 31.8 SETBP1 IFNA1 CSF3R ABL1
16 melanoma 31.8 UCA1 NRAS MIR17 MEG3 KIT IFNA1
17 gastrointestinal stromal tumor 31.6 KIT HOTAIR BRAF ABL1
18 acute promyelocytic leukemia 31.6 RUNX1 NRAS MIR223 IFNA1 CSF3R
19 lymphoma, non-hodgkin, familial 31.6 NRAS MIR20A MIR17 BRAF BCR
20 diffuse large b-cell lymphoma 31.5 MIR17 MIR10A HULC HOTAIR
21 gastric cancer 31.5 UCA1 NRAS MIR223 MIR20A MIR203A MIR17
22 bladder cancer 31.5 UCA1 NRAS MIR223 MIR203A MIR17 MIR10A
23 nasopharyngeal carcinoma 31.4 NRAS MIR223 MIR17 MEG3 HULC HOTAIR
24 prostate cancer 31.4 UCA1 MIR223 MIR20A MIR203A MIR17 MIR10A
25 thyroid carcinoma 31.4 UCA1 HOTAIR H19 BRAF
26 thyroid cancer, nonmedullary, 1 31.4 MEG3 HULC HOTAIR H19 BRAF
27 renal cell carcinoma, nonpapillary 31.3 UCA1 NRAS MIR17 KIT IFNA1 HOTAIR
28 childhood leukemia 31.3 RUNX1 BCR ABL1
29 systemic mastocytosis 31.3 NRAS KIT IFNA1
30 kidney cancer 31.3 MIR20A MIR17 MEG3 IFNA1 HOTAIR H19
31 myeloid leukemia 31.3 RUNX1 NRAS KIT CSF3R BCR ABL1
32 pancreatic cancer 31.2 UCA1 MIR223 MIR20A MIR203A MIR17 MIR10A
33 skin disease 31.2 NRAS MIR203A MIR17 KIT IFNA1
34 gastric adenocarcinoma 31.2 NRAS KIT HOTAIR H19 BRAF
35 leukemia, acute lymphoblastic 31.2 RUNX1 MIR223 MIR203A MIR17 KIT CSF3R
36 b-lymphoblastic leukemia/lymphoma 31.2 KIT BCR ABL1
37 skin carcinoma 31.2 NRAS MIR17 KIT IFNA1 BRAF
38 leukemia, chronic lymphocytic 31.1 NRAS MIR223 MIR20A MIR17 IFNA1 BRAF
39 myelodysplastic syndrome 31.1 SETBP1 RUNX1 NRAS MIR10A MEG3 KIT
40 chronic myelomonocytic leukemia 31.1 SETBP1 RUNX1 NRAS KIT CSF3R
41 esophageal cancer 31.0 UCA1 MIR223 MIR203A MEG3 HULC HOTAIR
42 lung cancer susceptibility 3 31.0 NRAS MIR17 MEG3 HOTAIR H19 BRAF
43 cervical cancer 31.0 UCA1 MIR17 MEG3 HULC HOTAIR H19
44 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 31.0 RUNX1 KIT
45 childhood acute myeloid leukemia 31.0 SETBP1 NRAS KIT
46 childhood acute lymphocytic leukemia 31.0 RUNX1 NRAS BCR ABL1
47 acute leukemia 31.0 SETBP1 RUNX1 KIT CSF3R BCR
48 osteogenic sarcoma 31.0 UCA1 MEG3 HULC HOTAIR H19
49 medulloblastoma 31.0 NRAS MIR20A MIR17 KIT HOTAIR H19
50 glioblastoma 30.9 NRAS MEG3 KIT HOTAIR H19 BRAF

Comorbidity relations with Leukemia, Chronic Myeloid via Phenotypic Disease Network (PDN):

Acute Cystitis Deficiency Anemia
Heart Disease

Graphical network of the top 20 diseases related to Leukemia, Chronic Myeloid:

Diseases related to Leukemia, Chronic Myeloid

Symptoms & Phenotypes for Leukemia, Chronic Myeloid

Human phenotypes related to Leukemia, Chronic Myeloid:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myeloproliferative disorder 58 31 obligate (100%) Obligate (100%) HP:0005547
2 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
3 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
4 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
5 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
6 leukocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001974
7 poor appetite 58 31 frequent (33%) Frequent (79-30%) HP:0004396
8 thrombocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001894
9 abnormal basophil morphology 31 frequent (33%) HP:0001912
10 chronic myelogenous leukemia 31 HP:0005506
11 abnormality of blood and blood-forming tissues 58 Frequent (79-30%)
12 abnormality of granulocytes 58 Frequent (79-30%)
13 abnormality of basophils 58 Frequent (79-30%)
14 reduced leukocyte alkaline phosphatase 31 HP:0004852
15 ph-positive acute lymphoblastic leukemia 31 HP:0004848

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
chronic myelogenous leukemia
ph-positive acute lymphoblastic leukemia

Laboratory Abnormalities:
low leukocyte alkaline phosphatase activity
presence of the philadelphia chromosome (translocation of 9q34 and 22q11) in greater than 95% of patients
two alternative chimeric oncogene products called p210(bcr-abl) and p185(bcr-abl)
detection by rt-pcr, southern blot analysis, and fish for primary diagnosis and follow up for residual disease

Clinical features from OMIM®:

608232 (Updated 05-Apr-2021)

UMLS symptoms related to Leukemia, Chronic Myeloid:

angina pectoris; chest pain; edema

GenomeRNAi Phenotypes related to Leukemia, Chronic Myeloid according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.17 KIT
2 Decreased substrate adherent cell growth GR00193-A-2 9.17 ABL1 KIT
3 Decreased substrate adherent cell growth GR00193-A-3 9.17 BRAF
4 Decreased substrate adherent cell growth GR00193-A-4 9.17 ABL1 BRAF KIT

Drugs & Therapeutics for Leukemia, Chronic Myeloid

Drugs for Leukemia, Chronic Myeloid (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 368)
# Name Status Phase Clinical Trials Cas Number PubChem Id
tannic acid Approved Phase 4 1401-55-4
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
3 HH-GV-678 Phase 4
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
Lorazepam Approved Phase 3 846-49-1 3958
Busulfan Approved, Investigational Phase 3 55-98-1 2478
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
Adenosine Approved, Investigational Phase 3 58-61-7 60961
Pentostatin Approved, Investigational Phase 3 53910-25-1 439693 40926
Lenograstim Approved, Investigational Phase 3 135968-09-1
Panobinostat Approved, Investigational Phase 2, Phase 3 404950-80-7 6918837
Etoposide Approved Phase 3 33419-42-0 36462
Idarubicin Approved Phase 3 58957-92-9 42890
18 Orange Approved Phase 2, Phase 3
Cobalt Approved, Experimental Phase 3 7440-48-4 104729
Azacitidine Approved, Investigational Phase 2, Phase 3 320-67-2 9444
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
Tacrolimus Approved, Investigational Phase 3 104987-11-3 6473866 445643 439492
Ponatinib Approved, Investigational Phase 3 943319-70-8 24826799
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
30 Dextrans Phase 2, Phase 3
31 Methylprednisolone Acetate Phase 2, Phase 3
32 Antiviral Agents Phase 3
33 interferons Phase 3
34 Interferon-alpha Phase 3
35 Anti-Infective Agents Phase 3
36 Iron-Dextran Complex Phase 3
37 Antibiotics, Antitubercular Phase 3
38 Anti-Bacterial Agents Phase 3
39 Hormones Phase 3
40 Etoposide phosphate Phase 3
41 Muromonab-CD3 Phase 3
42 Calcium, Dietary Phase 3
43 Angiotensin-Converting Enzyme Inhibitors Phase 3
44 Triamcinolone diacetate Phase 3
45 Triamcinolone hexacetonide Phase 3
46 triamcinolone acetonide Phase 3
47 Fluorides Phase 3
48 Antineoplastic Agents, Immunological Phase 2, Phase 3
49 Immunologic Factors Phase 3
50 Antirheumatic Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 917)
# Name Status NCT ID Phase Drugs
1 Low-dose Dasatinib as First-line Treatment for Chronic Myeloid Leukemia Unknown status NCT03216070 Phase 4 Dasatinib 50 MG
2 Multicenter, PhaseⅣ, Open Label Trial of Nilotinib in Adult Patients Diagnosed Philadelphia Chromosome Positive(Ph+) Chronic Myeloid Leukemia in CP/AP Intolerant to Dasatinib Unknown status NCT02389920 Phase 4 Nilotinib
4 Efficacy and Safety of Imatinib Mesylate as First-line Treatment for the Patients With Chronic Phase of Chronic Myeloid Leukemia Unknown status NCT02317159 Phase 4 Imatinib
5 Randomised Multicentre Phase IV Study to Compare Glivec® (Imatinib Mesylate, STI571) in Monotherapy Versus Glivec® in Combination With Interferon Alpha at Low Doses in the Treatment of Newly-Diagnosed Chronic-Phase Chronic Myeloid Leukaemia Completed NCT00390897 Phase 4 Glivec;Interferon
6 A Multi-center, Open-label, Exploratory Study of Bcr-Abl Kinetics in Adult Patients on Nilotinib With Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia in Chronic Phase (CML-CP) and a Suboptimal Molecular Response to Imatinib Completed NCT00644878 Phase 4 Nilotinib
7 A Phase 4 Study of Nilotinib in Korean Patients With Philadelphia Chromosome-positive Chronic Myeloid Leukemia in Chronic Phase Completed NCT03332511 Phase 4 Nilotinib
8 CRESCENDO (Compliance: Role Emerges for Success in CML: Evaluation aND Optimisation): A Prospective, Multi-center, Phase IV Study to Assess the Compliance in Patients With Philadelphia Chromosome-positive (Ph+) and/or BCR-ABL Positive Chronic Myelogenous Leukaemia (CML) Under Long-term Imatinib Therapy Completed NCT01243489 Phase 4
9 An Open-label, Multicenter Study of Oral AMN107 (Nilotinib) in Adult Patients With Imatinib - Resistant or - Intolerant Chronic Myeloid Leukemia in Blast Crisis, Accelerated Phase or Chronic Phase Previously Enrolled to ENACT (CAMN107A2109) Trial Completed NCT01368523 Phase 4 nilotinib
10 A Phase IV, Open-label, Multicenter Study of Dasatinib in Chronic-Phase Chronic Myeloid Leukemia (CP-CML) Patients With Chronic, Low-grade Non-Hematologic Toxicity to Imatinib Completed NCT01660906 Phase 4 Dasatinib
11 Gleevec Trial in Patients With Newly Diagnosed Chronic Phase Chronic Myelogenous Leukemia Completed NCT00081926 Phase 4 Gleevec
12 A Single-arm, Open-label, Multi-center Study of Complete Molecular Response (CMR) in Adult Patients With Newly Diagnosed Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia in Chronic Phase (CML-CP) Completed NCT01227577 Phase 4 Nilotinib
13 An Exploratory Trial to Assess the Improvement of Chronic Low-grade Non-hematologic Adverse Events Experienced by Patients With Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia in Chronic Phase (CML-CP) Treated With Imatinib When Switched to Nilotinib Treatment Completed NCT00980018 Phase 4 Nilotinib
14 Study Comparing Standard Dose and High-dose Imatinib Mesylate in Patients With Chronic Phase Ph+ CML Completed NCT00171899 Phase 4 imatinib mesylate
15 A Phase IV Study of Nilotinib in Patients With Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia in Chronic Phase (CML-CP) Who Have Suboptimal Molecular Response on Imatinib Completed NCT01043874 Phase 4 Nilotinib
16 Glivec in Pediatric Chronic Myeloid Leukemia (CML) Completed NCT00845221 Phase 4 Imatinib mesylate 100 mg (Glivec)
17 An Open-label, Multicenter Study of Treatment With Nilotinib in Adult Patients With Imatinib - Resistant or - Intolerant Chronic Myeloid Leukemia in Blast Crisis, Accelerated Phase or Chronic Phase Completed NCT00786812 Phase 4 Nilotinib
18 Validation of Digital-PCR Analysis Through Programmed Imatinib Interruption in PCR Negative CML Patients (ISAV) Completed NCT01578213 Phase 4 Imatinib mesylate
19 A Phase IV Study for Nilotinib in Patients With Imatinib-resistant or Intolerant Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia (CML) in Chronic or Accelerated Phase. Completed NCT01206088 Phase 4 nilotinib
20 Sustained Treatment-free Remission in BCR-ABL+ Chronic Myeloid Leukemia: a Prospective Study Comparing Nilotinib Versus Imatinib With Switch to Nilotinib in Absence of Optimal Response. SUSTRENIM Study - GIMEMA CLM1415 Recruiting NCT02602314 Phase 4 Imatinib;Nilotinib
21 Efficacy and Safety of Dasatinib 70 mg as First-Line Treatment for Newly Diagnosed Chronic-Phase Chronic Myeloid Leukemia (CML-CP) Recruiting NCT04155411 Phase 4 Dasatinib
22 Efficacy and the Safety of Flumatinib in Treatment of CML-CP Patients With Ph+ Post Imatinib Failure Recruiting NCT04677439 Phase 4 Flumatinib
23 A Phase IV Single Arm, Multicenter, Open-label Study Assessing Deep Molecular Response in Adult Patients With Newly Diagnosed Philadelphia Chromosome Positive CML in Chronic Phase After Two Years of Treatment With Nilotinib 300mg BID Active, not recruiting NCT02546674 Phase 4 Nilotinib
24 Are the Secondary Chromosome Abnormalities Seen in Chronic Myeloid Leukemia (CML) Cells Induced to Ph-Chromosome Negativity by Imatinib a Result of Chromosome Instability or a Side Effect of the Therapy - a Study in GIST (Gastrointestinal Stromal Cell Tumors) Patients Treated With Imatinib. Terminated NCT00461929 Phase 4
25 Efficacy and Safety Assessment of NIlotinib in CML Patients With Suboptimal Response on Imatinib Therapy (NISRI) Terminated NCT02086487 Phase 4 Nilotinib 300 mg.
26 A Multi-center, Single Arm Study of Nilotinib in Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia in Chronic Phase (CML-CP) Patients With Low Imatinib Trough Plasma Concentrations Terminated NCT01131325 Phase 4 nilotinib
28 A Phase IV Study to Evaluate Efficacy and Safety of Imatinib(Glinib®) 600mg/Day Depending on Early Molecular Response in Newly Diagnosed Patients With Chronic Myeloid Leukemia in Chronic Phase Terminated NCT02204722 Phase 4 600mg/day of Imatinib;400mg/day of Imatinib
29 A Phase II, Non Randomized, Open Label, Trial Evaluating Nilotinib as Treatment for Newly Diagnosed CML Patients in Accelerated Phase. Withdrawn NCT01605981 Phase 4 AMN107
30 Allogeneic Stem Cell Transplantation in CML With Partial T Cell Depletion and Preemptive Donor Lymphocyte Infusion. Unknown status NCT00966810 Phase 2, Phase 3
31 Multicenter, Phase III Study Comparing Imatinib (STI571, Glivec®) Standard Dose (400 Mg/Day) With Imatinib High Dose Induction (800 Mg/Day) Followed by Standard Dose Maintenance (400 Mg/Day) in Pretreated CML Patients in Chronic Phase Unknown status NCT00327262 Phase 3 Imatinib
32 Randomized Multicenter Phase III Study Comparing the Rate of Molecular Response 4.5 at 12 Months in Newly Diagnosed Philadelphia Positive Chronic Phase Chronic Myelogenous Leukemia Patients Receiving Either Frontline Nilotinib 600 mg Daily or Nilotinib 600 mg Daily Combined to Pegylated Interferon-alfa 2a (Peg-IFN) Unknown status NCT02201459 Phase 3 Nilotinib (Tasigna ®), capsules of 150 mg;Nilotinib (Tasigna ®) and Pegylated interferon alfa 2a (Pegasys®)
33 Evaluation of the Therapeutic Effect of Hydroxyurea Pulse Therapy for Chronic Myeloid Leukemia Patients Unknown status NCT03515018 Phase 3 hydroxyurea;Imatinib
35 Randomized Multicenter Treatment Optimization Study In Chronic Myeloid Leukemia (CML) Interferon-a Vs. Allogeneic Stem Cell Transplantation Vs. High-Dose Chemotherapy Followed By Autografting And Interferon-a Maintainance In Early Chronic Phase Unknown status NCT00025402 Phase 3 busulfan;cyclophosphamide;cytarabine;etoposide;hydroxyurea;idarubicin
37 A Phase III Multi-center, Open-label, Randomized Study of the Efficacy of Nilotinib Versus Imatinib in Adult Patients With Ph+ CML in Early CP Who Have a Suboptimal Molecular Response to Imatinib Unknown status NCT01400074 Phase 3 Nilotinib, Imatinib
38 A Phase III Randomized Trial of G-CSF Stimulated Bone Marrow vs. Conventional Bone Marrow as a Stem Cell Source In Matched Sibling Donor Transplantation Unknown status NCT00450450 Phase 3
39 Imatinib Versus Imatinib and Peg-Interferon in Patients With Ph+ CML and Complete Cytogenetic Response After Imatinib Therapy Unknown status NCT00297570 Phase 3 Pegylated Interferon and Imatinib
40 Myeloablative Hematopoietic Progenitor Cell Transplantation (HPCT) for Pediatric Malignancies Unknown status NCT00619879 Phase 3 Myeloablative Chemotherapy Regimen for Lymphoid Malignancies or Cord Blood Unit Recipients;Myeloablative Chemotherapy Regimen for Non-Cord Blood Unit Recipients with Myeloid Malignancies
41 Evaluation of Benefit and Side Effects of Double Umbilical Cord Blood Units Stem Cell Transplantation in Hematologic Malignancies Unknown status NCT01015742 Phase 2, Phase 3 Stem cell Transplantation
42 A Phase III Multi-center, Open-label, Randomized Study of Imatinib Versus Nilotinib in Adult Patients With Newly Diagnosed Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia in Chronic Phase (CML-CP) Completed NCT00471497 Phase 3 nilotinib;imatinib
43 A Phase III Study of STI571 Versus Interferon-α (IFN-α) Combined With Cytarabine (Ara-C) in Patients With Newly Diagnosed Previously Untreated Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia in Chronic Phase (CML-CP) Completed NCT00333840 Phase 3 imatinib mesilate;interferon-alpha (INF-a);cytarabine (ARA-C)
44 A Phase III Study Comparing Imatinib Standard Dose (400 mg/Day) Versus Imatinib High Dose (800 mg/Day) in the Treatment of Newly Diagnosed High Risk Chronic Myeloid Leukemia in Chronic Phase Completed NCT00514488 Phase 3 STI571 (400 mg/day; or 800 mg/day)
45 Detection of Minimal Residual Disease in Newly Diagnosed Patients With Leukemia and Those Who Undergo a Bone Marrow Transplant Using the Wilms Tumor Suppressor Gene (WT1) as a Marker By RT-PCR Completed NCT00179829 Phase 2, Phase 3
46 INSPIRE: An Internet-based RCT for Long-term Survivors of Hematopoietic Stem Cell Transplantation Completed NCT00799461 Phase 3
47 A Phase III, Prospective Randomised Comparison of Imatinib (STI571, Glivec/Gleevec) 400mg Daily Versus Dasatinib 100mg in Patients With Newly-diagnosed Chronic Phase Chronic Myeloid Leukaemia Completed NCT01460693 Phase 3 Imatinib;Dasatinib
48 A Randomized Two-by-Two, Multicenter, Open-Label Phase III Study of BMS-354825 Administered Orally at a Dose of 50 mg or 70 mg Twice Daily or 100 mg or 140 mg Once Daily in Subjects With Chronic Phase Philadelphia Chromosome or BCR-ABL Positive Chronic Myelogenous Leukemia Who Are Resistant or Intolerant to Imatinib Mesylate (Gleevec) Completed NCT00123474 Phase 3 dasatinib;dasatinib;dasatinib;dasatinib
49 A Randomized Two-Arm, Multicenter, Open-Label Phase III Study of BMS-354825 Administered Orally at a Dose of 70 mg Twice Daily or 140 mg Once Daily in Subjects With Chronic Myeloid Leukemia in Accelerated Phase or in Myeloid or Lymphoid Blast Phase or With Philadelphia Chromosome Positive Acute Lymphoblastic Leukemia Who Are Resistant or Intolerant to Imatinib Mesylate (Gleevec) Completed NCT00123487 Phase 3 dasatinib;dasatinib
50 An Open-Label, Randomized, Multicenter Phase III Trial of Dasatinib (SPRYCEL®) vs. Standard Dose Imatinib (400 mg) in the Treatment of Subjects With Newly Diagnosed Chronic Phase Philadelphia Chromosome Positive Chronic Myeloid Leukemia Completed NCT00481247 Phase 3 Dasatinib;Imatinib

Search NIH Clinical Center for Leukemia, Chronic Myeloid

Inferred drug relations via UMLS 70 / NDF-RT 51 :

Idarubicin Hydrochloride
Interferon Alfa-2b
Uracil Mustard

Cell-based therapeutics:

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Leukemia, Chronic Myeloid cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: leukemia, myelogenous, chronic, bcr-abl positive

Genetic Tests for Leukemia, Chronic Myeloid

Anatomical Context for Leukemia, Chronic Myeloid

MalaCards organs/tissues related to Leukemia, Chronic Myeloid:

Myeloid, Bone Marrow, Bone, T Cells, Spleen, Nk Cells, Endothelial

Publications for Leukemia, Chronic Myeloid

Articles related to Leukemia, Chronic Myeloid:

(show top 50) (show all 13724)
# Title Authors PMID Year
Clinical resistance to STI-571 cancer therapy caused by BCR-ABL gene mutation or amplification. 57 6 61
11423618 2001
Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia. 61 54 57
18250304 2008
Mutations in the ABL kinase domain pre-exist the onset of imatinib treatment. 61 54 6
12783380 2003
The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins. 57 61 54
11739186 2001
[Correlation between point mutation in ABL kinase and clinical outcome of chronic myeloid leukemia patients]. 61 6
25152116 2014
BCR-ABL kinase domain mutations, including 2 novel mutations in imatinib resistant Malaysian chronic myeloid leukemia patients-Frequency and clinical outcome. 6 61
24456693 2014
Detection of BCR-ABL kinase domain mutations in patients with chronic myeloid leukemia on imatinib. 61 6
23676790 2013
Evaluation of T315I mutation frequency in chronic myeloid leukemia patients after imatinib resistance. 61 6
23540562 2013
Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML. 6 61
23656643 2013
Early detection and quantification of mutations in the tyrosine kinase domain of chimerical BCR-ABL1 gene combining high-resolution melting analysis and mutant-allele specific quantitative polymerase chain reaction. 61 6
22870928 2013
Ponatinib is a pan-BCR-ABL kinase inhibitor: MD simulations and SIE study. 6 61
24236021 2013
Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. 61 57
23222956 2013
Contribution of BCR-ABL kinase domain mutations to imatinib mesylate resistance in Philadelphia chromosome positive Malaysian chronic myeloid leukemia patients. 61 6
23355941 2012
Poor response to second-line kinase inhibitors in chronic myeloid leukemia patients with multiple low-level mutations, irrespective of their resistance profile. 6 61
22210874 2012
Low-level Bcr-Abl mutations are very rare in chronic myeloid leukemia patients who are in major molecular response on first-line nilotinib. 61 6
21762985 2011
Chronic myeloid leukemia patients with F317L BCR-ABL kinase domain mutation are resistant to dasatinib: is that true for all the patients? 6 61
21605905 2011
BCR-ABL kinase domain mutation analysis in chronic myeloid leukemia patients treated with tyrosine kinase inhibitors: recommendations from an expert panel on behalf of European LeukemiaNet. 6 61
21562040 2011
Frequent EVI1 translocations in myeloid blast crisis CML that evolves through tyrosine kinase inhibitors. 6 61
21872826 2011
The ABL switch control inhibitor DCC-2036 is active against the chronic myeloid leukemia mutant BCR-ABLT315I and exhibits a narrow resistance profile. 6 61
21505103 2011
Practical advice for determining the role of BCR-ABL mutations in guiding tyrosine kinase inhibitor therapy in patients with chronic myeloid leukemia. 61 6
21509757 2011
Rapid and sensitive allele-specific (AS)-RT-PCR assay for detection of T315I mutation in chronic myeloid leukemia patients treated with tyrosine-kinase inhibitors. 61 6
20512393 2011
Characteristics of BCR-ABL kinase domain point mutations in Chinese imatinib-resistant chronic myeloid leukemia patients. 6 61
20697894 2011
Use of direct sequencing for detection of mutations in the BCR-ABL kinase domain in Slovak patients with chronic myeloid leukemia. 61 6
21895409 2011
Analysis of ABL kinase domain mutations conferring resistance to tyrosine kinase inhibitors in chronic myeloid leukemia cases from India. 61 6
21888027 2011
Expanded distribution of the T315I mutation among hematopoietic stem cells and progenitors in a chronic myeloid leukemia patient during imatinib treatment. 61 6
20963643 2010
BCR-ABL tyrosine kinase inhibitors in the treatment of Philadelphia chromosome positive chronic myeloid leukemia: a review. 61 6
20537386 2010
Associations between imatinib resistance conferring mutations and Philadelphia positive clonal cytogenetic evolution in CML. 6 61
20607847 2010
Mutations in ABL kinase domain are associated with inferior progression-free survival. 6 61
20367437 2010
Frequency of BCR-ABL gene mutations in Polish patients with chronic myeloid leukemia treated with imatinib: a final report of the MAPTEST study. 6 61
20010464 2009
Impact of baseline BCR-ABL mutations on response to nilotinib in patients with chronic myeloid leukemia in chronic phase. 6 61
19652056 2009
New mutations detected by denaturing high performance liquid chromatography during screening of exon 6 bcr-abl mutations in patients with chronic myeloid leukemia treated with tyrosine kinase inhibitors. 61 6
19557636 2009
Loss of the Alox5 gene impairs leukemia stem cells and prevents chronic myeloid leukemia. 61 57
19503090 2009
P-loop mutations and novel therapeutic approaches for imatinib failures in chronic myeloid leukemia. 6 61
18828913 2008
Expansion of Bcr-Abl-positive leukemic stem cells is dependent on Hedgehog pathway activation. 57 61
18772113 2008
Characterization of BCR-ABL deletion mutants from patients with chronic myeloid leukemia. 6 61
18354488 2008
Dynamics of BCR-ABL mutated clones prior to hematologic or cytogenetic resistance to imatinib. 6 61
18223278 2008
Contribution of ABL kinase domain mutations to imatinib resistance in different subsets of Philadelphia-positive patients: by the GIMEMA Working Party on Chronic Myeloid Leukemia. 6 61
17189410 2006
Requirement for CD44 in homing and engraftment of BCR-ABL-expressing leukemic stem cells. 61 57
16998483 2006
Inhibition of wild-type and mutant Bcr-Abl by AP23464, a potent ATP-based oncogenic protein kinase inhibitor: implications for CML. 61 6
15256422 2004
High incidence of BCR-ABL kinase domain mutations and absence of mutations of the PDGFR and KIT activation loops in CML patients with secondary resistance to imatinib. 6 54
14745431 2004
Chronic myeloid leukemia--advances in biology and new approaches to treatment. 61 57
14534339 2003
Chronic myeloid leukemia. 61 57
14560780 2003
Detection of BCR-ABL mutations in patients with CML treated with imatinib is virtually always accompanied by clinical resistance, and mutations in the ATP phosphate-binding loop (P-loop) are associated with a poor prognosis. 61 6
12623848 2003
Mechanisms of autoinhibition and STI-571/imatinib resistance revealed by mutagenesis of BCR-ABL. 61 57
12654249 2003
Several types of mutations of the Abl gene can be found in chronic myeloid leukemia patients resistant to STI571, and they can pre-exist to the onset of treatment. 61 6
12130516 2002
A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: possible involvement in the genesis of the Philadelphia chromosome translocation. 57 61
12114534 2002
Imatinib mesylate (STI571) in the treatment of relapse of chronic myeloid leukemia after allogeneic stem cell transplantation. 57 61
11986250 2002
High frequency of point mutations clustered within the adenosine triphosphate-binding region of BCR/ABL in patients with chronic myeloid leukemia or Ph-positive acute lymphoblastic leukemia who develop imatinib (STI571) resistance. 61 6
11964322 2002
Efficacy and safety of a specific inhibitor of the BCR-ABL tyrosine kinase in chronic myeloid leukemia. 57 61
11287972 2001
Activity of a specific inhibitor of the BCR-ABL tyrosine kinase in the blast crisis of chronic myeloid leukemia and acute lymphoblastic leukemia with the Philadelphia chromosome. 57 61
11287973 2001

Variations for Leukemia, Chronic Myeloid

ClinVar genetic disease variations for Leukemia, Chronic Myeloid:

6 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABL1 NM_005157.6(ABL1):c.707A>T (p.Glu236Val) SNV Pathogenic 12625 rs387906516 GRCh37: 9:133738307-133738307
GRCh38: 9:130862920-130862920
2 ABL1 NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) SNV Pathogenic 12624 rs121913459 GRCh37: 9:133748283-133748283
GRCh38: 9:130872896-130872896
3 ABL1 NM_005157.6(ABL1):c.706G>A (p.Glu236Lys) SNV Pathogenic 12626 rs387906517 GRCh37: 9:133738306-133738306
GRCh38: 9:130862919-130862919
4 ABL1 NM_005157.6(ABL1):c.757T>C (p.Tyr253His) SNV Pathogenic 12627 rs121913461 GRCh37: 9:133738357-133738357
GRCh38: 9:130862970-130862970
5 ABL1 NM_005157.6(ABL1):c.931T>C (p.Phe311Leu) SNV Pathogenic 12628 rs137853304 GRCh37: 9:133748270-133748270
GRCh38: 9:130872883-130872883
6 ABL1 NM_005157.6(ABL1):c.1052T>C (p.Met351Thr) SNV Pathogenic/Likely pathogenic 12629 rs121913457 GRCh37: 9:133748391-133748391
GRCh38: 9:130873004-130873004
7 ABL1 NM_005157.6(ABL1):c.949T>A (p.Phe317Ile) SNV Likely pathogenic 376119 rs1057519773 GRCh37: 9:133748288-133748288
GRCh38: 9:130872901-130872901
8 ABL1 NM_005157.6(ABL1):c.758A>T (p.Tyr253Phe) SNV Likely pathogenic 376089 rs121913460 GRCh37: 9:133738358-133738358
GRCh38: 9:130862971-130862971
9 ABL1 NM_005157.6(ABL1):c.756G>T (p.Gln252His) SNV Likely pathogenic 376088 rs121913458 GRCh37: 9:133738356-133738356
GRCh38: 9:130862969-130862969
10 CSF3R NM_000760.4(CSF3R):c.1843A>G (p.Thr615Ala) SNV Likely pathogenic 376125 rs1057519776 GRCh37: 1:36933444-36933444
GRCh38: 1:36467843-36467843
11 ABL1 NM_005157.6(ABL1):c.1075T>A (p.Phe359Ile) SNV Likely pathogenic 376122 rs121913452 GRCh37: 9:133748414-133748414
GRCh38: 9:130873027-130873027
12 ABL1 NM_005157.6(ABL1):c.951C>A (p.Phe317Leu) SNV Likely pathogenic 376093 rs121913451 GRCh37: 9:133748290-133748290
GRCh38: 9:130872903-130872903
13 ABL1 NM_005157.6(ABL1):c.847T>G (p.Phe283Val) SNV Likely pathogenic 376092 rs1057519758 GRCh37: 9:133747540-133747540
GRCh38: 9:130872153-130872153
14 CSF3R NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) SNV Likely pathogenic 208339 rs796065343 GRCh37: 1:36933434-36933434
GRCh38: 1:36467833-36467833
15 ABL1 NM_005157.6(ABL1):c.1064A>G (p.Glu355Gly) SNV Likely pathogenic 376095 rs121913450 GRCh37: 9:133748403-133748403
GRCh38: 9:130873016-130873016
16 ABL1 NM_005157.6(ABL1):c.895G>C (p.Val299Leu) SNV Likely pathogenic 376117 rs1057519771 GRCh37: 9:133747588-133747588
GRCh38: 9:130872201-130872201
17 ABL1 NM_005157.6(ABL1):c.749G>A (p.Gly250Glu) SNV Likely pathogenic 376086 rs121913453 GRCh37: 9:133738349-133738349
GRCh38: 9:130862962-130862962
18 NRAS NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) SNV Likely pathogenic 40469 rs121913250 GRCh37: 1:115258748-115258748
GRCh38: 1:114716127-114716127
19 ABL1 NM_005157.6(ABL1):c.949T>G (p.Phe317Val) SNV Likely pathogenic 376120 rs1057519773 GRCh37: 9:133748288-133748288
GRCh38: 9:130872901-130872901
20 ABL1 NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) SNV Likely pathogenic 12624 rs121913459 GRCh37: 9:133748283-133748283
GRCh38: 9:130872896-130872896
21 ABL1 NM_005157.6(ABL1):c.763G>A (p.Glu255Lys) SNV Likely pathogenic 376090 rs121913448 GRCh37: 9:133738363-133738363
GRCh38: 9:130862976-130862976
22 ABL1 NM_005157.6(ABL1):c.757T>C (p.Tyr253His) SNV Likely pathogenic 12627 rs121913461 GRCh37: 9:133738357-133738357
GRCh38: 9:130862970-130862970
23 ABL1 NM_005157.6(ABL1):c.1075T>C (p.Phe359Leu) SNV Likely pathogenic 376123 rs121913452 GRCh37: 9:133748414-133748414
GRCh38: 9:130873027-130873027
24 ABL1 NM_005157.6(ABL1):c.1075T>G (p.Phe359Val) SNV Likely pathogenic 376096 rs121913452 GRCh37: 9:133748414-133748414
GRCh38: 9:130873027-130873027
25 ABL1 NM_005157.6(ABL1):c.951C>G (p.Phe317Leu) SNV Likely pathogenic 376094 rs121913451 GRCh37: 9:133748290-133748290
GRCh38: 9:130872903-130872903
26 ABL1 NM_005157.6(ABL1):c.943A>G (p.Thr315Ala) SNV Likely pathogenic 376118 rs1057519772 GRCh37: 9:133748282-133748282
GRCh38: 9:130872895-130872895
27 BRAF NM_001374258.1(BRAF):c.1862A>G (p.Asn621Ser) SNV Likely pathogenic 177776 rs121913370 GRCh37: 7:140453193-140453193
GRCh38: 7:140753393-140753393
28 ABL1 NM_005157.6(ABL1):c.756G>C (p.Gln252His) SNV Likely pathogenic 376087 rs121913458 GRCh37: 9:133738356-133738356
GRCh38: 9:130862969-130862969
29 ABL1 NM_005157.6(ABL1):c.730A>G (p.Met244Val) SNV Likely pathogenic 376084 rs121913456 GRCh37: 9:133738330-133738330
GRCh38: 9:130862943-130862943
30 ABL1 NM_005157.6(ABL1):c.950T>G (p.Phe317Cys) SNV Likely pathogenic 376121 rs1057519774 GRCh37: 9:133748289-133748289
GRCh38: 9:130872902-130872902
31 ABL1 NM_005157.6(ABL1):c.1076T>G (p.Phe359Cys) SNV Likely pathogenic 376124 rs1057519775 GRCh37: 9:133748415-133748415
GRCh38: 9:130873028-130873028
32 ABL1 NM_005157.6(ABL1):c.764A>T (p.Glu255Val) SNV Likely pathogenic 376091 rs121913449 GRCh37: 9:133738364-133738364
GRCh38: 9:130862977-130862977
33 ABL1 NM_005157.6(ABL1):c.706G>A (p.Glu236Lys) SNV Likely pathogenic 12626 rs387906517 GRCh37: 9:133738306-133738306
GRCh38: 9:130862919-130862919
34 ABL1 NM_005157.6(ABL1):c.1187A>G (p.His396Arg) SNV Likely pathogenic 376097 rs121913454 GRCh37: 9:133750356-133750356
GRCh38: 9:130874969-130874969
35 ABL1 NM_005157.6(ABL1):c.742C>G (p.Leu248Val) SNV Likely pathogenic 376085 rs121913455 GRCh37: 9:133738342-133738342
GRCh38: 9:130862955-130862955
36 ABL1 NM_005157.6(ABL1):c.949T>C (p.Phe317Leu) SNV not provided 376352 rs1057519773 GRCh37: 9:133748288-133748288
GRCh38: 9:130872901-130872901
37 JAK2 , INSL6 NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) SNV not provided 14662 rs77375493 GRCh37: 9:5073770-5073770
GRCh38: 9:5073770-5073770
38 KIT NM_000222.3(KIT):c.1621A>C SNV not provided 41599 rs3822214 GRCh37: 4:55593464-55593464
GRCh38: 4:54727298-54727298
39 BCR NM_004327.4(BCR):c.2699A>G (p.Asn900Ser) SNV not provided 143220 rs752530462 GRCh37: 22:23631800-23631800
GRCh38: 22:23289613-23289613
40 BCR NM_004327.4(BCR):c.2707+21G>T SNV not provided 143221 rs527236142 GRCh37: 22:23631829-23631829
GRCh38: 22:23289642-23289642
41 BCR , LOC107963955 NM_004327.4(BCR):c.2750T>A (p.Val917Asp) SNV not provided 143222 rs527236143 GRCh37: 22:23632568-23632568
GRCh38: 22:23290381-23290381
42 SETBP1 NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) SNV not provided 1035 rs267607040 GRCh37: 18:42531913-42531913
GRCh38: 18:44951948-44951948

UniProtKB/Swiss-Prot genetic disease variations for Leukemia, Chronic Myeloid:

# Symbol AA change Variation ID SNP ID
1 SETBP1 p.Asp868Asn VAR_063807 rs267607042
2 SETBP1 p.Gly870Ser VAR_063809 rs267607040
3 SETBP1 p.Ile871Thr VAR_063810 rs267607038
4 SETBP1 p.Glu858Lys VAR_069849 rs117870202

Copy number variations for Leukemia, Chronic Myeloid from CNVD:

7 (show all 45)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 37133 1 858000 52858291 Copy numbercopy numberLOH Chronic myeloid leukemia
2 44672 10 61218526 61336824 Translate CCDC6 Chronic myelogenous leukemia
3 56890 11 61840484 62345935 Loss Chronic myeloid leukemia
4 59436 11 75208816 75845444 Loss Chronic myeloid leukemia
5 78023 13 48911492 50087172 Loss Chronic myeloid leukemia
6 83260 14 19767470 106339477 Gain Chronic myeloid leukemia
7 84230 14 24600000 33300000 Deletion Chronic myeloid leukemia
8 99762 16 28519207 31440323 Loss Chronic myeloid leukemia
9 138867 2 172217486 173146666 Loss Chronic myeloid leukemia
10 143230 2 234301355 238853232 Loss Chronic myeloid leukemia
11 162523 22 21962191 22180167 Loss Chronic myeloid leukemia
12 162524 22 21962191 22410163 Loss Chronic myeloid leukemia
13 162525 22 21962191 23748456 Loss Chronic myeloid leukemia
14 162526 22 21963005 23840758 Loss Chronic myeloid leukemia
15 162527 22 21965685 22103948 Loss Chronic myeloid leukemia
16 162528 22 21965685 22211587 Loss Chronic myeloid leukemia
17 162529 22 21965685 22575018 Loss Chronic myeloid leukemia
18 162530 22 21965685 23038955 Loss Chronic myeloid leukemia
19 162531 22 21965685 23404027 Loss Chronic myeloid leukemia
20 162532 22 21965685 23779268 Loss Chronic myeloid leukemia
21 162533 22 21969649 23264408 Loss Chronic myeloid leukemia
22 162539 22 21996232 23317147 Loss Chronic myeloid leukemia
23 162540 22 22020300 22659711 Loss Chronic myeloid leukemia
24 162567 22 22184646 22476629 Loss Chronic myeloid leukemia
25 162599 22 22374488 22513875 Loss Chronic myeloid leukemia
26 162992 22 23595985 23627388 Copy number Chronic myeloid leukemia
27 227187 7 65425674 65447246 Copy number GUSB Chronic myeloid leukemia
28 229935 7 97199324 142723486 Loss Chronic myeloid leukemia
29 231976 8 109706119 120929916 Loss Chronic myeloid leukemia
30 239048 8 3687491 5908007 Loss Chronic myeloid leukemia
31 247260 9 129645960 132672275 Loss Chronic myeloid leukemia
32 247319 9 130014643 132618574 Loss Chronic myeloid leukemia
33 247584 9 130432414 131425779 Loss Chronic myeloid leukemia
34 247725 9 130855419 132584828 Loss Chronic myeloid leukemia
35 247730 9 130896183 132618574 Loss Chronic myeloid leukemia
36 247834 9 131532978 132607062 Loss Chronic myeloid leukemia
37 247856 9 131641050 132590178 Loss Chronic myeloid leukemia
38 247886 9 131997035 132590178 Loss Chronic myeloid leukemia
39 247924 9 132362204 132593161 Loss Chronic myeloid leukemia
40 247932 9 132430323 132610819 Loss Chronic myeloid leukemia
41 248025 9 132985174 134219212 Loss Chronic myeloid leukemia
42 248051 9 133107127 133390056 Loss Chronic myeloid leukemia
43 248180 9 133589267 133763060 Copy number ABL1 Chronic myeloid leukemia
44 250432 9 212399 32604310 Loss Chronic myeloid leukemia
45 251914 9 3330 20811568 Copy numbercopy numberLOH Chronic myeloid leukemia

Expression for Leukemia, Chronic Myeloid

Search GEO for disease gene expression data for Leukemia, Chronic Myeloid.

Pathways for Leukemia, Chronic Myeloid

Pathways related to Leukemia, Chronic Myeloid according to KEGG:

# Name Kegg Source Accession
1 Chronic myeloid leukemia hsa05220

GO Terms for Leukemia, Chronic Myeloid

Biological processes related to Leukemia, Chronic Myeloid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of T cell differentiation GO:0045580 9.4 BRAF ABL1
2 regulation of myeloid cell differentiation GO:0045637 9.37 RUNX1 CSF3R
3 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.32 MIR20A MIR17
4 alpha-beta T cell differentiation GO:0046632 9.26 BRAF ABL1
5 gene silencing by miRNA GO:0035195 9.17 MIR223 MIR20A MIR203A MIR17 MIR10A MEG3
6 myeloid progenitor cell differentiation GO:0002318 9.16 KIT BRAF
7 positive regulation of pulmonary blood vessel remodeling GO:1905111 8.96 MIR20A MIR17

Molecular functions related to Leukemia, Chronic Myeloid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.02 MIR223 MIR20A MIR203A MIR17 MIR10A

Sources for Leukemia, Chronic Myeloid

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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