Leukemia, Chronic Myeloid (CML)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Leukemia, Chronic Myeloid

MalaCards integrated aliases for Leukemia, Chronic Myeloid:

Name: Leukemia, Chronic Myeloid 57 19 73 12 36
Chronic Myelogenous Leukemia 11 19 42 58 75 73 16
Chronic Myeloid Leukemia 11 19 42 58 5 41 14
Cml 57 11 19 42 58 73
Chronic Granulocytic Leukemia 11 19 42 58
Leukemia, Philadelphia Chromosome-Positive, Resistant to Imatinib 57 28 5
Chronic Myeloid Leukaemia 11 14 33
Chronic Granulocytic Leukaemia 11 33
Chronic Myelogenous Leukaemia 11 33
Myeloid Leukemia, Chronic 11 71
Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic 57
Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative 71
Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative 73
Cgl - [chronic Granulocytic Leukaemia] 33
Leukemia, Chronic Myeloid, Atypical 73
Cml - Chronic Myelogenous Leukemia 11
Cml- [chronic Myeloid Leukaemia] 33
Leukemia, Chronic Myelogenous 57
Chronic Myelocytic Leukaemia 33
Chronic Myelocytic Leukemia 42
Leukemia, Myeloid, Chronic 38
Myeloid Leukemia Chronic 53
Acml 73
Cgl 42



Somatic mutation 57


Chronic Myeloid Leukemia: 1-9/100000 (Europe, France, Europe, Europe, United States) 58

Age Of Onset:

Chronic Myeloid Leukemia: Adolescent,Adult,Childhood,Infancy 58


Orphanet: 58  
Rare haematological diseases

External Ids:

Disease Ontology 11 DOID:8552
OMIM® 57 608232
ICD9CM 34 205.1
MeSH 43 D015464
SNOMED-CT 68 154592009
ICD10 via Orphanet 32 C92.1
UMLS via Orphanet 72 C0023473
Orphanet 58 ORPHA521
UMLS 71 C0023473 C1292772

Summaries for Leukemia, Chronic Myeloid

MedlinePlus: 41 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 myelogenous leukemia, is related to chronic myelogenous leukemia, bcr-abl1 positive and atypical chronic myeloid leukemia, bcr-abl1 negative, 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 MAPK Signaling: Mitogens and MAP Kinase Signaling. The drugs Benzocaine and Tannic acid 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

MedlinePlus Genetics: 42 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.

UniProtKB/Swiss-Prot 73 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.

GARD: 19 Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.

Orphanet: 58 Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.

Disease Ontology: 11 A myeloid leukemia that is characterized by over production of white blood cells.

Wikipedia: 75 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
Acute Myeloid Leukemia with T(6;9) (p23;q34.1) Acute Myeloid Leukemia with T(8;21); (q22; Q22.1)
Acute Myeloid Leukemia with T(1;22)(p13;q13) Subacute Myeloid Leukemia
Acute Myeloid Leukemia with T(9;11)(p22;q23) 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 1193)
# Related Disease Score Top Affiliating Genes
1 chronic myelogenous leukemia, bcr-abl1 positive 33.2 SF3B1 NRAS KRAS CSF3R BRAF BCR
2 atypical chronic myeloid leukemia, bcr-abl1 negative 33.1 SETBP1 NRAS CSF3R ABL1
3 juvenile myelomonocytic leukemia 33.1 SETBP1 RUNX1 NRAS KRAS CSF3R BRAF
4 myelodysplastic/myeloproliferative neoplasm 32.8 SETBP1 NRAS CSF3R ABL1
5 acute myeloid leukemia with bcr-abl1 32.6 NRAS ABL1
6 myeloma, multiple 32.2 UCA1 NRAS MIR17 MEG3 KRAS HOTAIR
7 gastrointestinal stromal tumor 32.1 NRAS KRAS HOTAIR BRAF BCR ABL1
8 acute promyelocytic leukemia 32.0 RUNX1 NRAS MIR223 MIR17 KRAS CSF3R
9 essential thrombocythemia 32.0 SETBP1 MIR223 CSF3R ABL1
10 chronic leukemia 32.0 SETBP1 NRAS CSF3R BCR ABL1
11 melanoma 31.8 UCA1 SF3B1 NRAS MIR17 MEG3 KRAS
12 lymphoma, non-hodgkin, familial 31.8 NRAS MIR223 MIR20A MIR17 BRAF BCR
13 bladder cancer 31.8 UCA1 NRAS MIR223 MIR203A MIR17 MIR10A
14 myelofibrosis 31.7 SF3B1 SETBP1 RUNX1 MIR223 MEG3 CSF3R
15 colorectal cancer 31.7 UCA1 NRAS MIR223 MIR20A MIR203A MIR17
16 renal cell carcinoma, nonpapillary 31.6 UCA1 SF3B1 NRAS MIR223 MIR20A MIR17
17 hepatocellular carcinoma 31.6 UCA1 SF3B1 NRAS MIR223 MIR20A MIR203A
18 prostate cancer 31.6 UCA1 MIR223 MIR20A MIR203A MIR17 MIR10A
19 diffuse large b-cell lymphoma 31.5 MIR17 MIR10A HULC HOTAIR
20 leukemia, acute myeloid 31.5 UCA1 SF3B1 SETBP1 RUNX1 NRAS MIR223
21 thyroid carcinoma 31.5 UCA1 HOTAIR H19 BRAF
22 thyroid cancer, nonmedullary, 1 31.4 MEG3 HULC HOTAIR H19 BRAF
23 nasopharyngeal carcinoma 31.4 MIR223 MIR17 MEG3 HULC HOTAIR H19
24 gastric cancer 31.4 UCA1 NRAS MIR223 MIR20A MIR203A MIR17
25 skin disease 31.4 NRAS MIR223 MIR20A MIR203A MIR17 KRAS
26 pancreatic cancer 31.4 UCA1 MIR223 MIR20A MIR203A MIR17 MIR10A
28 cervical cancer 31.3 UCA1 MIR20A MIR17 MEG3 HULC HOTAIR
29 leukemia, chronic lymphocytic 31.3 SF3B1 NRAS MIR223 MIR20A MIR17 KRAS
30 myelodysplastic syndrome 31.3 SF3B1 SETBP1 RUNX1 NRAS MIR17 MIR10A
31 myeloid leukemia 31.3 SETBP1 RUNX1 NRAS CSF3R BCR ABL1
32 esophageal cancer 31.3 UCA1 MIR223 MIR20A MIR203A MIR17 MEG3
33 chronic myelomonocytic leukemia 31.2 SF3B1 SETBP1 RUNX1 NRAS KRAS CSF3R
34 leukemia, acute lymphoblastic 31.2 RUNX1 MIR223 MIR203A MIR17 KRAS CSF3R
35 gastric adenocarcinoma 31.2 NRAS KRAS HOTAIR H19 BRAF
36 acute leukemia 31.2 SETBP1 RUNX1 KRAS CSF3R BCR
37 kidney cancer 31.2 MIR20A MIR17 MEG3 HOTAIR H19
38 squamous cell carcinoma 31.2 UCA1 NRAS KRAS HOTAIR H19 BRAF
39 microvascular complications of diabetes 5 31.2 MIR223 MIR20A MIR17
40 skin squamous cell carcinoma 31.1 NRAS HOTAIR BRAF
41 arteries, anomalies of 31.1 MIR223 MIR20A MIR17 MIR10A
42 lymphatic system disease 31.1 MIR223 MIR20A MIR17 MIR10A
43 lung cancer susceptibility 3 31.1 NRAS MIR17 MEG3 KRAS HOTAIR H19
44 rectal benign neoplasm 31.1 MIR20A MIR17 KRAS
45 wilms tumor 1 31.0 MEG3 KRAS H19 BRAF ABL1
46 hematologic cancer 31.0 RUNX1 MIR223 MIR20A MIR17 BCR ABL1
47 medulloblastoma 31.0 NRAS MIR20A MIR17 HOTAIR H19 ABL1
48 myeloproliferative neoplasm 31.0 RUNX1 H19 CSF3R BCR ABL1
49 central nervous system disease 31.0 MIR223 MIR20A MIR17 MIR10A H19
50 brain cancer 31.0 NRAS MIR20A MIR17 MIR10A 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 30 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myeloproliferative disorder 58 30 Obligate (100%) Obligate (100%)
2 splenomegaly 58 30 Frequent (33%) Frequent (79-30%)
3 fatigue 58 30 Frequent (33%) Frequent (79-30%)
4 fever 58 30 Frequent (33%) Frequent (79-30%)
5 thrombocytopenia 58 30 Frequent (33%) Frequent (79-30%)
6 poor appetite 58 30 Frequent (33%) Frequent (79-30%)
7 leukocytosis 58 30 Frequent (33%) Frequent (79-30%)
8 thrombocytosis 58 30 Frequent (33%) Frequent (79-30%)
9 abnormal basophil morphology 30 Frequent (33%) HP:0001912
10 chronic myelogenous leukemia 30 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 30 HP:0004852
15 ph-positive acute lymphoblastic leukemia 30 HP:0004848

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

UMLS symptoms related to Leukemia, Chronic Myeloid:

angina pectoris; chest pain; edema

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
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
3 interferons Phase 4
4 Interferon-alpha Phase 4
5 HH-GV-678 Phase 4
Imatinib Mesylate Phase 4 220127-57-1
7 Tin Fluorides Phase 4
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 4894 5755
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5 1875
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 4159 6741
Iron Approved Phase 2, Phase 3 7439-89-6 29936
Adenosine Approved, Investigational Phase 3 58-61-7 60961
Thiotepa Approved, Investigational Phase 3 52-24-4 5453
Rituximab Approved Phase 3 174722-31-7
Etoposide Approved Phase 3 33419-42-0 36462
Alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
Cobalt Approved, Experimental, Withdrawn Phase 3 7440-48-4 104729
Pentostatin Approved, Investigational Phase 3 53910-25-1 439693
22 Orange Approved Phase 2, Phase 3
Azacitidine Approved, Investigational Phase 2, Phase 3 320-67-2 9444
Lenograstim Approved, Investigational Phase 3 135968-09-1
Acetic acid Approved Phase 3 64-19-7 176
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
Ethanol Approved Phase 3 64-17-5 702
Benzyl alcohol Approved Phase 3 100-51-6 244
Levoleucovorin Approved, Experimental, Investigational Phase 3 68538-85-2, 58-05-9, 73951-54-9 149436 6006
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 4112 126941
Tacrolimus Approved, Investigational Phase 3 104987-11-3 6473866 445643
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
Ponatinib Approved, Investigational Phase 3 943319-70-8 24826799
Hydroxyurea Approved Phase 3 127-07-1 3657
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7 4897
Zuretinol acetate Investigational Phase 3 127-47-9, 29584-22-3 10245972
Methylprednisolone Acetate Phase 2, Phase 3 584547
39 Thymoglobulin Phase 2, Phase 3
40 Dextrans Phase 2, Phase 3
41 Immunoglobulins Phase 3
42 Antibodies Phase 3
Etoposide phosphate Phase 3 16760419
Muromonab-CD3 Phase 3
45 Interferon-alfa-1b Phase 3
46 Iron-Dextran Complex Phase 3
Triamcinolone hexacetonide Phase 3
Triamcinolone diacetate Phase 3
Triamcinolone Acetonide Phase 3 6436
50 Angiotensin-Converting Enzyme Inhibitors Phase 3

Interventional clinical trials:

(show top 50) (show all 916)
# Name Status NCT ID Phase Drugs
2 Low-dose Dasatinib as First-line Treatment for Chronic Myeloid Leukemia Unknown status NCT03216070 Phase 4 Dasatinib 50 MG
3 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 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
6 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
7 Gleevec Trial in Patients With Newly Diagnosed Chronic Phase Chronic Myelogenous Leukemia Completed NCT00081926 Phase 4 Gleevec
8 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
9 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
10 Study Comparing Standard Dose and High-dose Imatinib Mesylate in Patients With Chronic Phase Ph+ CML Completed NCT00171899 Phase 4 imatinib mesylate
11 Efficacy and Safety of Dasatinib in the First-line Treatment of Newly Diagnosed Chronic-Phase Chronic Myeloid Leukemia (CML-CP) Completed NCT04925141 Phase 4 Dasatinib Tablets
12 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
13 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
14 A Phase 4 Study of Nilotinib in Korean Patients With Philadelphia Chromosome-positive Chronic Myeloid Leukemia in Chronic Phase Completed NCT03332511 Phase 4 Nilotinib
15 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
16 Glivec in Pediatric Chronic Myeloid Leukemia (CML) Completed NCT00845221 Phase 4 Imatinib mesylate 100 mg (Glivec)
17 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
18 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 Completed NCT02546674 Phase 4 Nilotinib
19 Validation of Digital-PCR Analysis Through Programmed Imatinib Interruption in PCR Negative CML Patients (ISAV) Completed NCT01578213 Phase 4 Imatinib mesylate
20 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
21 An Open Label, Multi-center Asciminib Roll-over Study to Assess Long-term Safety in Patients Who Have Completed a Novartis Sponsored Asciminib Study and Are Judged by the Investigator to Benefit From Continued Treatment Recruiting NCT04877522 Phase 4 Asciminib single agent;Asciminib;Imatinib;Nilotinib;Bosutinib;Dasatinib
22 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
23 The Efficacy and Safety of Switching to Flumatinib Versus Dasatinib After Imatinib-related Low-grade Adverse Events in Patients With Chronic Myeloid Leukemia in Chronic Phase: an Randomized Controlled Trial. Recruiting NCT04933526 Phase 4 Flumatinib;Dasatinib
24 A Double-blind , Randomized, Multicenter, Phase 4 Study to Evaluate Efficacy and Safety of Oral Flumatinib 400mg Versus 600mg in Patients With Newly Diagnosed Chronic Myeloid Leukemia in Chronic Phase. Recruiting NCT05353205 Phase 4 Flumatinib mesylate tablets (400mg);Flumatinib mesylate tablets (600mg)
25 Efficacy and the Safety of Flumatinib in Treatment of CML-CP Patients With Ph+ Post Imatinib Failure Recruiting NCT04677439 Phase 4 Flumatinib
26 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 Active, not recruiting NCT02602314 Phase 4 Imatinib;Nilotinib
27 Evaluating the Efficacy and Safety of Flumatinib Versus Imatinib for in Patients With Newly Diagnosed Chronic Myeloid Leukemia (CML)-in Chronic Phase (CP): A Multicenter, Open-label, Real World Study Not yet recruiting NCT05367765 Phase 4 Flumatinib;Imatinib
28 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
29 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
31 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
32 Efficacy and Safety Assessment of NIlotinib in CML Patients With Suboptimal Response on Imatinib Therapy (NISRI) Terminated NCT02086487 Phase 4 Nilotinib 300 mg.
33 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
34 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®)
35 A Randomized Control Trial Comparing Peginterferon-α-2a Versus Observation After Stopping Tyrosine Kinase Inhibitor in Chronic Myeloid Leukemia With Deep Molecular Response for at Least Two Years Unknown status NCT02381379 Phase 3 Peginterferon-α-2a
36 Evaluation of the Therapeutic Effect of Hydroxyurea Pulse Therapy for Chronic Myeloid Leukemia Patients Unknown status NCT03515018 Phase 3 hydroxyurea;Imatinib
37 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
39 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
40 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
42 Allogeneic Stem Cell Transplantation in CML With Partial T Cell Depletion and Preemptive Donor Lymphocyte Infusion. Unknown status NCT00966810 Phase 2, Phase 3
43 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
44 INSPIRE: An Internet-based RCT for Long-term Survivors of Hematopoietic Stem Cell Transplantation Completed NCT00799461 Phase 3
45 Eltrombopag for the Management of Thrombocytopenia Associated With Tyrosine Kinase Therapy in Patients With Chronic Myeloid Leukemia (CML) and Myelofibrosis (MF) Completed NCT01428635 Phase 2, Phase 3 Eltrombopag Olamine
46 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 Completed NCT00450450 Phase 3
47 A Randomized Double Blinded Trial of Topical Caphosol to Prevent Oral Mucositis in Children Undergoing Hematopoietic Stem Cell Transplantation Completed NCT01305200 Phase 3 supersaturated calcium phosphate rinse
48 An Open-label Multi-center Study of Imatinib and Nilotinib in CAMN107ECN02 On-treatment Patients With Philadelphia Chromosome Positive Chronic Myelogenous Leukemia in Chronic Phase After the End of CAMN107ECN02 Core Study Completed NCT02272777 Phase 3 Imatinib;Nilotinib
49 Multicenter Open Label Expanded Access-Program of Pegylated Interferon Alfa-2a (Pegasys) in Patients With Chronic Myelogenous Leukemia (CML) Completed NCT02736721 Phase 3 Peginterferon alfa-2a
50 A Randomized Phase Lll Study of Imatinib Dose Optimization Compared With Nilotinib in Patients With Chronic Myelogenous Leukemia and Suboptimal Response to Standard-dose Imatinib Completed NCT00802841 Phase 3 nilotinib;imatinib

Search NIH Clinical Center for Leukemia, Chronic Myeloid

Inferred drug relations via UMLS 71 / NDF-RT 50 :

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.

Genetic Tests for Leukemia, Chronic Myeloid

Genetic tests related to Leukemia, Chronic Myeloid:

# Genetic test Affiliating Genes
1 Leukemia, Philadelphia Chromosome-Positive, Resistant to Imatinib 28

Anatomical Context for Leukemia, Chronic Myeloid

Organs/tissues related to Leukemia, Chronic Myeloid:

MalaCards : Myeloid, Bone Marrow, Bone, Spleen, T Cells, Liver, Kidney

Publications for Leukemia, Chronic Myeloid

Articles related to Leukemia, Chronic Myeloid:

(show top 50) (show all 27786)
# Title Authors PMID Year
Clinical resistance to STI-571 cancer therapy caused by BCR-ABL gene mutation or amplification. 62 57 5
11423618 2001
Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia. 53 62 57
18250304 2008
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. 53 62 5
14745431 2004
Mutations in the ABL kinase domain pre-exist the onset of imatinib treatment. 53 62 5
12783380 2003
The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins. 53 62 57
11739186 2001
Structural mechanism for STI-571 inhibition of abelson tyrosine kinase. 53 62 5
10988075 2000
Fusion of TEL, the ETS-variant gene 6 (ETV6), to the receptor-associated kinase JAK2 as a result of t(9;12) in a lymphoid and t(9;15;12) in a myeloid leukemia. 53 62 57
9326218 1997
Dual targeting of p53 and c-MYC selectively eliminates leukaemic stem cells. 62 57
27281222 2016
Erosion of the chronic myeloid leukaemia stem cell pool by PPARγ agonists. 62 57
26331539 2015
Axitinib effectively inhibits BCR-ABL1(T315I) with a distinct binding conformation. 62 5
25686603 2015
[Correlation between point mutation in ABL kinase and clinical outcome of chronic myeloid leukemia patients]. 62 5
25152116 2014
BCR-ABL kinase domain mutations, including 2 novel mutations in imatinib resistant Malaysian chronic myeloid leukemia patients-Frequency and clinical outcome. 62 5
24456693 2014
Detection of ABL1 kinase mutations in Philadelphia-positive patients exhibiting an inadequate molecular response using restriction fragment mass polymorphism and its clinical significance: a single-center experience in Korea. 62 5
23575252 2013
Detection of BCR-ABL kinase domain mutations in patients with chronic myeloid leukemia on imatinib. 62 5
23676790 2013
Evaluation of T315I mutation frequency in chronic myeloid leukemia patients after imatinib resistance. 62 5
23540562 2013
Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML. 62 5
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. 62 5
22870928 2013
Ponatinib is a pan-BCR-ABL kinase inhibitor: MD simulations and SIE study. 62 5
24236021 2013
Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. 62 57
23222956 2013
Rapid Evolution to Blast Crisis Associated with a Q252H ABL1 Kinase Domain Mutation in e19a2 BCR-ABL1 Chronic Myeloid Leukaemia. 62 5
24109527 2013
Contribution of BCR-ABL kinase domain mutations to imatinib mesylate resistance in Philadelphia chromosome positive Malaysian chronic myeloid leukemia patients. 62 5
23355941 2012
Mutated BCR-ABL generates immunogenic T-cell epitopes in CML patients. 62 5
22912393 2012
Poor response to second-line kinase inhibitors in chronic myeloid leukemia patients with multiple low-level mutations, irrespective of their resistance profile. 62 5
22210874 2012
Rapid quantitative detection of the T315I mutation in patients with chronic myelogenous leukemia. 62 5
22306673 2012
BCR-ABL isoforms associated with intrinsic or acquired resistance to imatinib: more heterogeneous than just ABL kinase domain point mutations? 62 5
21221851 2012
Low-level Bcr-Abl mutations are very rare in chronic myeloid leukemia patients who are in major molecular response on first-line nilotinib. 62 5
21762985 2011
Chronic myeloid leukemia patients with F317L BCR-ABL kinase domain mutation are resistant to dasatinib: is that true for all the patients? 62 5
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. 62 5
21562040 2011
Frequent EVI1 translocations in myeloid blast crisis CML that evolves through tyrosine kinase inhibitors. 62 5
21872826 2011
Practical advice for determining the role of BCR-ABL mutations in guiding tyrosine kinase inhibitor therapy in patients with chronic myeloid leukemia. 62 5
21509757 2011
The ABL switch control inhibitor DCC-2036 is active against the chronic myeloid leukemia mutant BCR-ABLT315I and exhibits a narrow resistance profile. 62 5
21505103 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. 62 5
20512393 2011
Analysis of ABL kinase domain mutations conferring resistance to tyrosine kinase inhibitors in chronic myeloid leukemia cases from India. 62 5
21888027 2011
Use of direct sequencing for detection of mutations in the BCR-ABL kinase domain in Slovak patients with chronic myeloid leukemia. 62 5
21895409 2011
Characteristics of BCR-ABL kinase domain point mutations in Chinese imatinib-resistant chronic myeloid leukemia patients. 62 5
20697894 2011
Expanded distribution of the T315I mutation among hematopoietic stem cells and progenitors in a chronic myeloid leukemia patient during imatinib treatment. 62 5
20963643 2010
BCR-ABL tyrosine kinase inhibitors in the treatment of Philadelphia chromosome positive chronic myeloid leukemia: a review. 62 5
20537386 2010
Associations between imatinib resistance conferring mutations and Philadelphia positive clonal cytogenetic evolution in CML. 62 5
20607847 2010
Rapid clonal shifts in response to kinase inhibitor therapy in chronic myelogenous leukemia are identified by quantitation mutation assays. 62 5
20557306 2010
E355G mutation appearing in a patient with e19a2 chronic myeloid leukaemia resistant to imatinib. 62 5
20702476 2010
Regulation of myeloid leukaemia by the cell-fate determinant Musashi. 62 57
20639863 2010
Mutations in ABL kinase domain are associated with inferior progression-free survival. 62 5
20367437 2010
Dynamic change of T315I BCR-ABL kinase domain mutation in Korean chronic myeloid leukaemia patients during treatment with Abl tyrosine kinase inhibitors. 62 5
19768693 2010
Frequency of BCR-ABL gene mutations in Polish patients with chronic myeloid leukemia treated with imatinib: a final report of the MAPTEST study. 62 5
20010464 2009
Impact of baseline BCR-ABL mutations on response to nilotinib in patients with chronic myeloid leukemia in chronic phase. 62 5
19652056 2009
Loss of the Alox5 gene impairs leukemia stem cells and prevents chronic myeloid leukemia. 62 57
19503090 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. 62 5
19557636 2009
Hedgehog signalling is essential for maintenance of cancer stem cells in myeloid leukaemia. 62 57
19169242 2009
Concomitant t(3;3)(q21;q26), trisomy 19, and E255V mutation associated with imatinib mesylate resistance in chronic myelogenous leukemia. 62 5
19264234 2009
P-loop mutations and novel therapeutic approaches for imatinib failures in chronic myeloid leukemia. 62 5
18828913 2008

Variations for Leukemia, Chronic Myeloid

ClinVar genetic disease variations for Leukemia, Chronic Myeloid:

5 (show all 44)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABL1 NM_005157.6(ABL1):c.931T>C (p.Phe311Leu) SNV Pathogenic
12628 rs137853304 GRCh37: 9:133748270-133748270
GRCh38: 9:130872883-130872883
2 ABL1 NM_005157.6(ABL1):c.757T>C (p.Tyr253His) SNV Pathogenic
Likely Pathogenic
12627 rs121913461 GRCh37: 9:133738357-133738357
GRCh38: 9:130862970-130862970
3 ABL1 NM_005157.6(ABL1):c.706G>A (p.Glu236Lys) SNV Pathogenic
Likely Pathogenic
12626 rs387906517 GRCh37: 9:133738306-133738306
GRCh38: 9:130862919-130862919
4 ABL1 NM_005157.6(ABL1):c.707A>T (p.Glu236Val) SNV Pathogenic
12625 rs387906516 GRCh37: 9:133738307-133738307
GRCh38: 9:130862920-130862920
5 ABL1 NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) SNV Pathogenic
Likely Pathogenic
12624 rs121913459 GRCh37: 9:133748283-133748283
GRCh38: 9:130872896-130872896
6 NRAS NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) SNV Pathogenic
40468 rs121913250 GRCh37: 1:115258748-115258748
GRCh38: 1:114716127-114716127
7 SF3B1 NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu) SNV Pathogenic
376004 rs559063155 GRCh37: 2:198266834-198266834
GRCh38: 2:197402110-197402110
8 KRAS NM_004985.5(KRAS):c.35G>T (p.Gly12Val) SNV Pathogenic
12583 rs121913529 GRCh37: 12:25398284-25398284
GRCh38: 12:25245350-25245350
9 ABL1 NM_005157.6(ABL1):c.1052T>C (p.Met351Thr) SNV Pathogenic/Likely Pathogenic
12629 rs121913457 GRCh37: 9:133748391-133748391
GRCh38: 9:130873004-130873004
10 ABL1 NM_005157.6(ABL1):c.949T>A (p.Phe317Ile) SNV Likely Pathogenic
376119 rs1057519773 GRCh37: 9:133748288-133748288
GRCh38: 9:130872901-130872901
11 ABL1 NM_005157.6(ABL1):c.758A>T (p.Tyr253Phe) SNV Likely Pathogenic
376089 rs121913460 GRCh37: 9:133738358-133738358
GRCh38: 9:130862971-130862971
12 ABL1 NM_005157.6(ABL1):c.756G>T (p.Gln252His) SNV Likely Pathogenic
376088 rs121913458 GRCh37: 9:133738356-133738356
GRCh38: 9:130862969-130862969
13 CSF3R NM_000760.4(CSF3R):c.1843A>G (p.Thr615Ala) SNV Likely Pathogenic
376125 rs1057519776 GRCh37: 1:36933444-36933444
GRCh38: 1:36467843-36467843
14 ABL1 NM_005157.6(ABL1):c.1075T>A (p.Phe359Ile) SNV Likely Pathogenic
376122 rs121913452 GRCh37: 9:133748414-133748414
GRCh38: 9:130873027-130873027
15 ABL1 NM_005157.6(ABL1):c.951C>A (p.Phe317Leu) SNV Likely Pathogenic
376093 rs121913451 GRCh37: 9:133748290-133748290
GRCh38: 9:130872903-130872903
16 ABL1 NM_005157.6(ABL1):c.847T>G (p.Phe283Val) SNV Likely Pathogenic
376092 rs1057519758 GRCh37: 9:133747540-133747540
GRCh38: 9:130872153-130872153
17 ABL1 NM_005157.6(ABL1):c.1064A>G (p.Glu355Gly) SNV Likely Pathogenic
376095 rs121913450 GRCh37: 9:133748403-133748403
GRCh38: 9:130873016-130873016
18 ABL1 NM_005157.6(ABL1):c.895G>C (p.Val299Leu) SNV Likely Pathogenic
376117 rs1057519771 GRCh37: 9:133747588-133747588
GRCh38: 9:130872201-130872201
19 ABL1 NM_005157.6(ABL1):c.749G>A (p.Gly250Glu) SNV Likely Pathogenic
376086 rs121913453 GRCh37: 9:133738349-133738349
GRCh38: 9:130862962-130862962
20 ABL1 NM_005157.6(ABL1):c.949T>G (p.Phe317Val) SNV Likely Pathogenic
376120 rs1057519773 GRCh37: 9:133748288-133748288
GRCh38: 9:130872901-130872901
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.1075T>C (p.Phe359Leu) SNV Likely Pathogenic
376123 rs121913452 GRCh37: 9:133748414-133748414
GRCh38: 9:130873027-130873027
23 ABL1 NM_005157.6(ABL1):c.1075T>G (p.Phe359Val) SNV Likely Pathogenic
376096 rs121913452 GRCh37: 9:133748414-133748414
GRCh38: 9:130873027-130873027
24 ABL1 NM_005157.6(ABL1):c.951C>G (p.Phe317Leu) SNV Likely Pathogenic
376094 rs121913451 GRCh37: 9:133748290-133748290
GRCh38: 9:130872903-130872903
25 ABL1 NM_005157.6(ABL1):c.943A>G (p.Thr315Ala) SNV Likely Pathogenic
376118 rs1057519772 GRCh37: 9:133748282-133748282
GRCh38: 9:130872895-130872895
26 ABL1 NM_005157.6(ABL1):c.756G>C (p.Gln252His) SNV Likely Pathogenic
376087 rs121913458 GRCh37: 9:133738356-133738356
GRCh38: 9:130862969-130862969
27 ABL1 NM_005157.6(ABL1):c.730A>G (p.Met244Val) SNV Likely Pathogenic
376084 rs121913456 GRCh37: 9:133738330-133738330
GRCh38: 9:130862943-130862943
28 ABL1 NM_005157.6(ABL1):c.950T>G (p.Phe317Cys) SNV Likely Pathogenic
376121 rs1057519774 GRCh37: 9:133748289-133748289
GRCh38: 9:130872902-130872902
29 ABL1 NM_005157.6(ABL1):c.1076T>G (p.Phe359Cys) SNV Likely Pathogenic
376124 rs1057519775 GRCh37: 9:133748415-133748415
GRCh38: 9:130873028-130873028
30 ABL1 NM_005157.6(ABL1):c.764A>T (p.Glu255Val) SNV Likely Pathogenic
376091 rs121913449 GRCh37: 9:133738364-133738364
GRCh38: 9:130862977-130862977
31 NRAS NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) SNV Likely Pathogenic
40469 rs121913250 GRCh37: 1:115258748-115258748
GRCh38: 1:114716127-114716127
32 BRAF NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) SNV Likely Pathogenic
177776 rs121913370 GRCh37: 7:140453193-140453193
GRCh38: 7:140753393-140753393
33 CSF3R NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) SNV Likely Pathogenic
208339 rs796065343 GRCh37: 1:36933434-36933434
GRCh38: 1:36467833-36467833
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 IKZF1 NM_006060.6(IKZF1):c.1474T>G (p.Cys492Gly) SNV Uncertain Significance
1710502 GRCh37: 7:50468239-50468239
GRCh38: 7:50400541-50400541
37 BCR NM_004327.4(BCR):c.3275_3278dup (p.Val1094fs) DUP Uncertain Significance
1206149 GRCh37: 22:23653975-23653976
GRCh38: 22:23311788-23311789
38 JAK2, INSL6 NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) SNV Not Provided
14662 rs77375493 GRCh37: 9:5073770-5073770
GRCh38: 9:5073770-5073770
39 KIT NM_000222.3(KIT):c.1621A>C (p.Met541Leu) SNV Not Provided
41599 rs3822214 GRCh37: 4:55593464-55593464
GRCh38: 4:54727298-54727298
40 BCR NM_004327.4(BCR):c.2699A>G (p.Asn900Ser) SNV Not Provided
143220 rs752530462 GRCh37: 22:23631800-23631800
GRCh38: 22:23289613-23289613
41 BCR NM_004327.4(BCR):c.2707+21G>T SNV Not Provided
143221 rs527236142 GRCh37: 22:23631829-23631829
GRCh38: 22:23289642-23289642
42 BCR, LOC107963955 NM_004327.4(BCR):c.2750T>A (p.Val917Asp) SNV Not Provided
143222 rs527236143 GRCh37: 22:23632568-23632568
GRCh38: 22:23290381-23290381
43 SETBP1 NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) SNV Not Provided
1035 rs267607040 GRCh37: 18:42531913-42531913
GRCh38: 18:44951948-44951948
44 ABL1 NM_005157.6(ABL1):c.949T>C (p.Phe317Leu) SNV Not Provided
376352 rs1057519773 GRCh37: 9:133748288-133748288
GRCh38: 9:130872901-130872901

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 rs1178702025

Copy number variations for Leukemia, Chronic Myeloid from CNVD:

6 (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 directly related to Leukemia, Chronic Myeloid:

# Pathway Source
1 Signaling by cytosolic FGFR1 fusion mutants Reactome 66
2 Signaling by GSK3beta mutants Reactome 66

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

(show all 16)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
4 11.71 NRAS KRAS ABL1
Show member pathways
Show member pathways
Show member pathways
Show member pathways
Show member pathways
11.15 MIR223 MIR20A MIR203A MIR17
11 11.13 NRAS KRAS ABL1
15 10.85 MIR223 MIR20A MIR203A MIR17 ABL1
Show member pathways

GO Terms for Leukemia, Chronic Myeloid

Cellular components related to Leukemia, Chronic Myeloid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RISC complex GO:0016442 9.44 MIR223 MIR20A MIR203A MIR17 MIR10A MEG3

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

# Name GO ID Score Top Affiliating Genes
1 miRNA-mediated gene silencing GO:0035195 9.93 MIR223 MIR20A MIR203A MIR17 MIR10A MEG3
2 positive regulation of phagocytosis GO:0050766 9.71 MIR20A MIR17 BCR
3 alpha-beta T cell differentiation GO:0046632 9.61 BRAF ABL1
4 positive regulation of extracellular matrix organization GO:1903055 9.56 RUNX1 ABL1
5 positive regulation of hydrogen peroxide-mediated programmed cell death GO:1901300 9.5 MIR17 ABL1
6 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.37 MIR20A MIR17
7 cellular response to lipopolysaccharide GO:0071222 9.17 MIR223 MIR20A MIR17 BCR ABL1
8 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 3'-UTR binding GO:0003730 9.26 MIR223 MIR20A MIR17 MIR10A
2 mRNA base-pairing translational repressor activity GO:1903231 9.02 MIR223 MIR20A MIR203A MIR17 MIR10A

Sources for Leukemia, Chronic Myeloid

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
Loading form....