MCID: LKM068
MIFTS: 64

Leukemia, Chronic Myeloid, Somatic

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

Aliases & Classifications for Leukemia, Chronic Myeloid, Somatic

MalaCards integrated aliases for Leukemia, Chronic Myeloid, Somatic:

Name: Leukemia, Chronic Myeloid, Somatic 54 38
Chronic Myeloid Leukemia 38 12 50 25 56 29 41 14
Chronic Myelogenous Leukemia 12 50 25 56 71 29
Cml 12 50 25 56 71
Chronic Granulocytic Leukemia 12 50 25 56
Leukemia, Chronic Myeloid 50 71 13
Leukemia, Chronic Myeloid, Atypical 71 29
Myeloid Leukemia, Chronic 12 69
Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative 69
Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative 71
Leukemia, Myelogenous, Chronic, Bcr-Abl Positive 42
Cml - Chronic Myelogenous Leukemia 12
Chronic Myelocytic Leukemia 25
Myeloid Leukemia Chronic 52
Acml 71
Cgl 25

Characteristics:

Orphanet epidemiological data:

56
chronic myeloid leukemia
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (France),1-9/100000 (United States); Age of onset: Adult;

OMIM:

54
Inheritance:
somatic mutation


HPO:

32
leukemia, chronic myeloid, somatic:
Inheritance somatic mutation


Classifications:



Summaries for Leukemia, Chronic Myeloid, Somatic

MedlinePlus : 41 leukemia is cancer of the white blood cells. white blood cells help your body fight infection. your blood cells form in your bone marrow. in leukemia, the bone marrow produces abnormal white blood cells. these cells crowd out the healthy blood cells, making it hard for blood to do its work. in chronic myeloid leukemia (cml), there are too many granulocytes, a type of white blood cell. most people with cml have a gene mutation (change) called the philadelphia chromosome. sometimes cml does not cause any symptoms. if you have symptoms, they may include: fatigue weight loss night sweats fever pain or a feeling of fullness below the ribs on the left side tests that examine the blood and bone marrow diagnose cml. treatments include chemotherapy, stem cell transplants, infusion of donated white blood cells following stem cell transplants, surgery to remove the spleen, and biologic and targeted therapies. biologic therapy boosts your body's own ability to fight cancer. targeted therapy uses substances that attack cancer cells without harming normal cells. nih: national cancer institute

MalaCards based summary : Leukemia, Chronic Myeloid, Somatic, also known as chronic myeloid leukemia, is related to gastrointestinal stromal tumor and sideroblastic anemia, and has symptoms including splenomegaly, thrombocytopenia and fatigue. An important gene associated with Leukemia, Chronic Myeloid, Somatic is BCR (BCR, RhoGEF And GTPase Activating Protein), and among its related pathways/superpathways are Chronic myeloid leukemia and Innate Immune System. The drugs Bosulif and Gleevec have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and bone marrow, and related phenotypes are Decreased viability and hematopoietic system

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on chronic myeloproliferative disorders.

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 25 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.

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

Description from OMIM: 608232

Related Diseases for Leukemia, Chronic Myeloid, Somatic

Diseases in the Leukemia, Chronic Myeloid, Somatic family:

Acute Myeloid Leukemia, Somatic Dnmt3a-Related

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

(show top 50) (show all 231)
id Related Disease Score Top Affiliating Genes
1 gastrointestinal stromal tumor 30.9 ABL1 FLT3 KIT KITLG PDGFRA PDGFRB
2 sideroblastic anemia 30.9 CSF2 IL3
3 hemolytic anemia 30.0 ABL1 BCR CSF2 CSF3 FLT3 IL3
4 atypical chronic myeloid leukemia 12.4
5 philadelphia-negative chronic myeloid leukemia 12.1
6 leukemia 11.7
7 juvenile myelomonocytic leukemia 11.3
8 myeloid leukemia 11.2
9 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) 11.2 FLT3 KIT
10 pdgfrb-associated chronic eosinophilic leukemia 11.2
11 phosphoglycerate mutase deficiency 11.1 ABL1 BCR
12 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome 11.1 FLT3 KIT RUNX1
13 myeloid neoplasms associated with pdgfrb rearrangement 11.1 JAK2 PDGFRA PDGFRB
14 cystic adventitial disease 11.0 CSF2 IL3 KITLG
15 nephrolithiasis 11.0 CSF2 JAK2 SETBP1
16 acute pre-b-cell lymphoblastic leukemia 11.0 FLT3 JAK2 KIT
17 nuchal bleb, familial 11.0 BCR IFNA1 IFNA2
18 multiple mucosal neuroma 11.0 ABL1 PDGFRB
19 meier-gorlin syndrome 7 11.0 BCR CRKL
20 split hand/foot malformation x-linked 11.0 IFNA2 JAK2 SETBP1
21 postsynaptic congenital myasthenic syndromes 11.0 IL3 JAK2 RUNX1
22 desmoplastic small round cell tumor 11.0 KIT PDGFRA PDGFRB
23 idiopathic syringomyelia 11.0 ABL1 BCR FLT3
24 acute necrotizing encephalopathy 11.0 FLT3 KIT RUNX1
25 neutropenia, severe congenital 3, autosomal recessive 11.0 CSF2 CSF3 IL3
26 neutropenia, severe congenital 1, autosomal dominant 11.0 CSF2 CSF3 IL3
27 sarcomatoid mesothelioma 11.0 IFNA2 KIT PDGFRA
28 primary bone lymphoma 11.0 PDGFRA PDGFRB
29 adult brainstem gliosarcoma 11.0 IFNA2 KIT KITLG
30 lymphangiectasia, intestinal 11.0 CSF2 CSF3 IL3
31 enterovesical fistula 11.0 CSF2 CSF3 IFNA1
32 cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 11.0 IL3 JAK2 STAT5A
33 basal ganglia calcification, idiopathic, 4 11.0 IFNA2 PDGFRB
34 wilms tumor 6 11.0 IL3 KIT PDGFRA PDGFRB
35 extraosseous osteosarcoma 11.0 KIT PDGFRA PDGFRB
36 olfactory nerve disease 11.0 IL3 KIT KITLG
37 exertional headache 11.0 CSF3 KIT KITLG
38 mast-cell leukemia 10.9
39 familial chronic myelocytic leukemia-like syndrome 10.9
40 dedifferentiated liposarcoma 10.9 KIT PDGFRA
41 granulomatous hepatitis 10.9 CSF2 IL3 JAK2
42 malignant epithelioid hemangioendothelioma 10.9 CSF3 IFNA1 IFNA2 SETBP1
43 fetal nicotine spectrum disorder 10.9 JAK2 PDGFRA PDGFRB RUNX1 SETBP1
44 cask-related intellectual disability 10.9 BCR FLT3 KIT PDGFRB RUNX1
45 suppression amblyopia 10.9 ABL1 BCR FLT3 JAK2 RUNX1
46 focal epilepsy 10.9 ABL1 BCR JAK2 PDGFRA PDGFRB
47 lacrimal system cancer 10.9 CSF2 CSF3 IL3 JAK2
48 periventricular nodular heterotopia 3 10.9 KIT KITLG PDGFRA
49 acute myocardial infarction 10.9 BCR CSF2 CSF3 RUNX1
50 peroxisome biogenesis disorder 5a 10.9 ABL1 BCR FLT3 IL3 RUNX1

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


Acute Cystitis Deficiency Anemia
Heart Disease

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



Diseases related to Leukemia, Chronic Myeloid, Somatic

Symptoms & Phenotypes for Leukemia, Chronic Myeloid, Somatic

Symptoms via clinical synopsis from OMIM:

54

Hematology:
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

Human phenotypes related to Leukemia, Chronic Myeloid, Somatic:

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0001744
2 thrombocytopenia 56 32 frequent (33%) Frequent (79-30%) HP:0001873
3 fatigue 56 32 frequent (33%) Frequent (79-30%) HP:0012378
4 fever 56 32 frequent (33%) Frequent (79-30%) HP:0001945
5 poor appetite 56 32 frequent (33%) Frequent (79-30%) HP:0004396
6 leukocytosis 56 32 frequent (33%) Frequent (79-30%) HP:0001974
7 thrombocytosis 56 32 frequent (33%) Frequent (79-30%) HP:0001894
8 myeloproliferative disorder 56 32 obligate (100%) Obligate (100%) HP:0005547
9 abnormality of basophils 56 32 frequent (33%) Frequent (79-30%) HP:0001912
10 chronic myelogenous leukemia 32 HP:0005506
11 ph-positive acute lymphoblastic leukemia 32 HP:0004848
12 abnormality of blood and blood-forming tissues 56 Frequent (79-30%)
13 abnormality of granulocytes 56 Frequent (79-30%)

UMLS symptoms related to Leukemia, Chronic Myeloid, Somatic:


angina pectoris, chest pain, edema

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.56 BCR
2 Decreased viability GR00173-A 10.56 FLT3 PDGFRA
3 Decreased viability GR00221-A-1 10.56 ABL1 CRKL FLT3 PDGFRA PDGFRB KIT
4 Decreased viability GR00221-A-2 10.56 BCR ABL1 CRKL
5 Decreased viability GR00221-A-3 10.56 ABL1 PDGFRA PDGFRB
6 Decreased viability GR00221-A-4 10.56 CRKL FLT3 PDGFRA PDGFRB BCR
7 Decreased viability GR00301-A 10.56 BCR KIT
8 Decreased viability GR00342-S-1 10.56 ABL1 PDGFRB
9 Decreased viability GR00342-S-2 10.56 ABL1
10 Decreased viability GR00342-S-3 10.56 ABL1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.3 BCR ABL1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.3 KIT
13 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.3 ABL1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.3 LYN
15 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.3 CSF3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.3 BCR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.3 BCR SETBP1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.3 ABL1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.3 BCR
20 Increased shRNA abundance (Z-score > 2) GR00366-A-143 10.3 STAT5A
21 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.3 SETBP1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.3 CRKL
23 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.3 ABL1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.3 KIT
25 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.3 ABL1 SETBP1 KIT
26 Increased shRNA abundance (Z-score > 2) GR00366-A-158 10.3 STAT5A
27 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.3 CRKL
28 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.3 BCR SETBP1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.3 BCR
30 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.3 SETBP1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10.3 KIT
32 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.3 CRKL
33 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10.3 STAT5A
34 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.3 SETBP1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.3 STAT5A LYN SETBP1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.3 SETBP1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.3 BCR
38 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.3 CRKL
39 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.3 LYN
40 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.3 BCR
41 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.3 BCR
42 Increased shRNA abundance (Z-score > 2) GR00366-A-3 10.3 ABL1
43 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.3 ABL1 KIT
44 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.3 LYN
45 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.3 STAT5A KIT
46 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.3 ABL1
47 Increased shRNA abundance (Z-score > 2) GR00366-A-45 10.3 CSF3
48 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.3 ABL1
49 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.3 LYN CRKL
50 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10.3 CSF3
51 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.3 STAT5A
52 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.3 SETBP1
53 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.3 SETBP1
54 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.3 BCR CSF3 LYN ABL1
55 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.3 BCR LYN ABL1 SETBP1 CRKL STAT5A
56 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.3 KIT
57 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.3 KIT
58 Decreased substrate adherent cell growth GR00193-A-1 9.8 KIT
59 Decreased substrate adherent cell growth GR00193-A-2 9.8 ABL1 KIT
60 Decreased substrate adherent cell growth GR00193-A-4 9.8 ABL1 FLT3 KIT
61 Decreased viability in HMC1.1 cells GR00105-A-0 9.16 KIT LYN
62 Increased senescence-associated beta-galactosidase protein expression after pRB stimulation GR00230-A-2 9.13 FLT3 KIT LYN

MGI Mouse Phenotypes related to Leukemia, Chronic Myeloid, Somatic:

44 (show all 17)
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.37 PDGFRA PDGFRB RUNX1 STAT5A ABL1 BCR
2 homeostasis/metabolism MP:0005376 10.35 KIT KITLG LYN PDGFRA PDGFRB RUNX1
3 immune system MP:0005387 10.33 RUNX1 STAT5A ABL1 BCR CRKL CSF2
4 cellular MP:0005384 10.31 KIT KITLG PDGFRA PDGFRB RUNX1 STAT5A
5 growth/size/body region MP:0005378 10.29 KIT KITLG PDGFRA PDGFRB RUNX1 STAT5A
6 endocrine/exocrine gland MP:0005379 10.26 KIT KITLG PDGFRA PDGFRB RUNX1 STAT5A
7 mortality/aging MP:0010768 10.24 ABL1 BCR CRKL CSF2 FLT3 IRF8
8 embryo MP:0005380 10.19 KIT KITLG PDGFRA PDGFRB RUNX1 ABL1
9 integument MP:0010771 10.17 LYN PDGFRA PDGFRB RUNX1 STAT5A CRKL
10 digestive/alimentary MP:0005381 10.15 ABL1 BCR KIT KITLG LYN PDGFRA
11 liver/biliary system MP:0005370 10.14 ABL1 BCR CRKL IRF8 JAK2 KIT
12 craniofacial MP:0005382 10.1 ABL1 CRKL CSF2 KIT KITLG PDGFRA
13 neoplasm MP:0002006 9.97 CRKL CSF2 FLT3 IRF8 JAK2 KIT
14 nervous system MP:0003631 9.96 ABL1 BCR CRKL CSF2 KIT KITLG
15 normal MP:0002873 9.81 ABL1 BCR IRF8 JAK2 KIT PDGFRA
16 renal/urinary system MP:0005367 9.56 BCR CSF2 CSF3 KIT LYN PDGFRA
17 skeleton MP:0005390 9.32 ABL1 CRKL CSF2 FLT3 JAK2 KIT

Drugs & Therapeutics for Leukemia, Chronic Myeloid, Somatic

FDA approved drugs:

(show all 7)
id Drug Name Active Ingredient(s) 17 Company Approval Date
1
Bosulif 17 46 BOSUTINIB MONOHYDRATE Pfizer September 2012
2
Gleevec 17 46 IMATINIB MESYLATE Novartis May 2001
3
Iclusig 17 46 PONATINIB HYDROCHLORIDE Ariad Pharmaceuticals December 2012
4
Sprycel 17 46 DASATINIB Bristol-Myers Squibb June 2006
5
Synribo 17 46 OMACETAXINE MEPESUCCINATE Teva Pharmaceutical October 2012
6
Tasigna 17 46 NILOTINIB HYDROCHLORIDE MONOHYDRATE Novartis October 2007
7
Busulfex 17 46 BUSULFAN Orphan Medical February 1999

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

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cytarabine Approved, Investigational Phase 1, Phase 2 147-94-4 6253
2
ponatinib Approved Phase 1, Phase 2 943319-70-8 24826799
3 Anti-Infective Agents Phase 1, Phase 2
4 Antimetabolites Phase 1, Phase 2
5 Antimetabolites, Antineoplastic Phase 1, Phase 2
6 Antiviral Agents Phase 1, Phase 2
7 Immunosuppressive Agents Phase 1, Phase 2
8 PONATINIB  Phase 1, Phase 2
9 Protein Kinase Inhibitors Phase 1, Phase 2
10 Antibodies Phase 2
11 Antibodies, Monoclonal Phase 2
12 Immunoglobulins Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Ponatinib for FLT3-ITD Acute Myelogenous Leukemia Recruiting NCT02428543 Phase 1, Phase 2 Ponatinib and Cytarabine
2 Ponatinib for Advanced Medullary Thyroid Cancer Terminated NCT01838642 Phase 2 Ponatinib

Search NIH Clinical Center for Leukemia, Chronic Myeloid, Somatic

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Leukemia, Chronic Myeloid, Somatic cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Leukemia, Chronic Myeloid, Somatic:
Hemacord
Hematopoietic stem cells for treatment of hematologic malignancies
StemEx
Embryonic/Adult Cultured Cells Related to Leukemia, Chronic Myeloid, Somatic:
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD PMIDs: 9828244
Bone marrow-derived hematopoietic stem cells
Umbilical cord blood stem/progenitor cells (Stemex) PMIDs: 18209724

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

Genetic Tests for Leukemia, Chronic Myeloid, Somatic

Genetic tests related to Leukemia, Chronic Myeloid, Somatic:

id Genetic test Affiliating Genes
1 Chronic Myeloid Leukemia 29
2 Leukemia, Chronic Myeloid, Atypical 29
3 Chronic Myelogenous Leukemia 29

Anatomical Context for Leukemia, Chronic Myeloid, Somatic

MalaCards organs/tissues related to Leukemia, Chronic Myeloid, Somatic:

39
Myeloid, Bone, Bone Marrow, Spleen, Testes, Liver, Endothelial

Publications for Leukemia, Chronic Myeloid, Somatic

Variations for Leukemia, Chronic Myeloid, Somatic

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

71
id 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

ClinVar genetic disease variations for Leukemia, Chronic Myeloid, Somatic:

6 (show all 32)
id Gene Variation Type Significance SNP ID Assembly Location
1 SETBP1 NM_015559.2(SETBP1): c.2608G> A (p.Gly870Ser) single nucleotide variant Pathogenic rs267607040 GRCh37 Chromosome 18, 42531913: 42531913
2 ABL1 NM_007313.2(ABL1): c.1001C> T (p.Thr334Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913459 GRCh37 Chromosome 9, 133748283: 133748283
3 ABL1 NM_007313.2(ABL1): c.763G> A (p.Glu255Lys) single nucleotide variant Pathogenic/Likely pathogenic rs387906517 GRCh37 Chromosome 9, 133738306: 133738306
4 ABL1 NM_007313.2(ABL1): c.814T> C (p.Tyr272His) single nucleotide variant Pathogenic/Likely pathogenic rs121913461 GRCh37 Chromosome 9, 133738357: 133738357
5 ABL1 NM_007313.2(ABL1): c.1109T> C (p.Met370Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121913457 GRCh37 Chromosome 9, 133748391: 133748391
6 JAK2 NM_004972.3(JAK2): c.1849G> T (p.Val617Phe) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs77375493 GRCh37 Chromosome 9, 5073770: 5073770
7 NRAS NM_002524.4(NRAS): c.34G> C (p.Gly12Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121913250 GRCh37 Chromosome 1, 115258748: 115258748
8 BRAF NM_004333.4(BRAF): c.1742A> G (p.Asn581Ser) single nucleotide variant Likely pathogenic rs121913370 GRCh37 Chromosome 7, 140453193: 140453193
9 CSF3R NM_156039.3(CSF3R): c.1853C> T (p.Thr618Ile) single nucleotide variant Pathogenic/Likely pathogenic rs796065343 GRCh37 Chromosome 1, 36933434: 36933434
10 ABL1 NM_005157.5(ABL1): c.730A> G (p.Met244Val) single nucleotide variant Likely pathogenic rs121913456 GRCh37 Chromosome 9, 133738330: 133738330
11 ABL1 NM_005157.5(ABL1): c.742C> G (p.Leu248Val) single nucleotide variant Likely pathogenic rs121913455 GRCh37 Chromosome 9, 133738342: 133738342
12 ABL1 NM_005157.5(ABL1): c.749G> A (p.Gly250Glu) single nucleotide variant Likely pathogenic rs121913453 GRCh37 Chromosome 9, 133738349: 133738349
13 ABL1 NM_005157.5(ABL1): c.756G> C (p.Gln252His) single nucleotide variant Likely pathogenic rs121913458 GRCh37 Chromosome 9, 133738356: 133738356
14 ABL1 NM_007313.2(ABL1): c.813G> T (p.Gln271His) single nucleotide variant Likely pathogenic rs121913458 GRCh37 Chromosome 9, 133738356: 133738356
15 ABL1 NM_005157.5(ABL1): c.758A> T (p.Tyr253Phe) single nucleotide variant Likely pathogenic rs121913460 GRCh37 Chromosome 9, 133738358: 133738358
16 ABL1 NM_007313.2(ABL1): c.820G> A (p.Glu274Lys) single nucleotide variant Likely pathogenic rs121913448 GRCh37 Chromosome 9, 133738363: 133738363
17 ABL1 NM_005157.5(ABL1): c.764A> T (p.Glu255Val) single nucleotide variant Likely pathogenic rs121913449 GRCh37 Chromosome 9, 133738364: 133738364
18 ABL1 NM_005157.5(ABL1): c.847T> G (p.Phe283Val) single nucleotide variant Likely pathogenic rs1057519758 GRCh37 Chromosome 9, 133747540: 133747540
19 ABL1 NM_005157.5(ABL1): c.951C> A (p.Phe317Leu) single nucleotide variant Likely pathogenic rs121913451 GRCh38 Chromosome 9, 130872903: 130872903
20 ABL1 NM_007313.2(ABL1): c.1008C> G (p.Phe336Leu) single nucleotide variant Likely pathogenic rs121913451 GRCh37 Chromosome 9, 133748290: 133748290
21 ABL1 NM_005157.5(ABL1): c.1064A> G (p.Glu355Gly) single nucleotide variant Likely pathogenic rs121913450 GRCh37 Chromosome 9, 133748403: 133748403
22 ABL1 NM_005157.5(ABL1): c.1075T> G (p.Phe359Val) single nucleotide variant Likely pathogenic rs121913452 GRCh37 Chromosome 9, 133748414: 133748414
23 ABL1 NM_005157.5(ABL1): c.1187A> G (p.His396Arg) single nucleotide variant Likely pathogenic rs121913454 GRCh37 Chromosome 9, 133750356: 133750356
24 ABL1 NM_007313.2(ABL1): c.952G> C (p.Val318Leu) single nucleotide variant Likely pathogenic rs1057519771 GRCh37 Chromosome 9, 133747588: 133747588
25 ABL1 NM_005157.5(ABL1): c.943A> G (p.Thr315Ala) single nucleotide variant Likely pathogenic rs1057519772 GRCh37 Chromosome 9, 133748282: 133748282
26 ABL1 NM_005157.5(ABL1): c.949T> A (p.Phe317Ile) single nucleotide variant Likely pathogenic rs1057519773 GRCh37 Chromosome 9, 133748288: 133748288
27 ABL1 NM_007313.2(ABL1): c.1006T> G (p.Phe336Val) single nucleotide variant Likely pathogenic rs1057519773 GRCh38 Chromosome 9, 130872901: 130872901
28 ABL1 NM_007313.2(ABL1): c.1007T> G (p.Phe336Cys) single nucleotide variant Likely pathogenic rs1057519774 GRCh37 Chromosome 9, 133748289: 133748289
29 ABL1 NM_007313.2(ABL1): c.1132T> A (p.Phe378Ile) single nucleotide variant Likely pathogenic rs121913452 GRCh37 Chromosome 9, 133748414: 133748414
30 ABL1 NM_005157.5(ABL1): c.1075T> C (p.Phe359Leu) single nucleotide variant Likely pathogenic rs121913452 GRCh37 Chromosome 9, 133748414: 133748414
31 ABL1 NM_005157.5(ABL1): c.1076T> G (p.Phe359Cys) single nucleotide variant Likely pathogenic rs1057519775 GRCh37 Chromosome 9, 133748415: 133748415
32 CSF3R NM_156039.3(CSF3R): c.1843A> G (p.Thr615Ala) single nucleotide variant Likely pathogenic rs1057519776 GRCh37 Chromosome 1, 36933444: 36933444

Copy number variations for Leukemia, Chronic Myeloid, Somatic from CNVD:

7 (show all 45)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 37133 1 858000 52858291 Copy numbercopy numb erLOH Chronic myeloid leukemia
2 44672 10 61218526 61336824 Translate D10S170 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 numb erLOH Chronic myeloid leukemia

Expression for Leukemia, Chronic Myeloid, Somatic

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

Pathways for Leukemia, Chronic Myeloid, Somatic

Pathways related to Leukemia, Chronic Myeloid, Somatic according to KEGG:

37
id Name Kegg Source Accession
1 Chronic myeloid leukemia hsa05220

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

(show top 50) (show all 56)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.98 ABL1 CRKL CSF2 CSF3 FLT3 IFNA1
2
Show member pathways
13.89 ABL1 CSF2 CSF3 FLT3 IL3 JAK2
3
Show member pathways
13.74 FLT3 IL3 JAK2 KIT KITLG LYN
4
Show member pathways
13.66 CSF2 CSF3 FLT3 IFNA1 IFNA2 IL3
5
Show member pathways
13.54 CRKL FLT3 IFNA1 IFNA2 IL3 JAK2
6
Show member pathways
13.52 ABL1 CSF2 IL3 JAK2 KIT KITLG
7
Show member pathways
13.42 CSF2 CSF3 FLT3 IL3 JAK2 KIT
8
Show member pathways
13.33 ABL1 CSF2 IFNA1 IFNA2 IL3 JAK2
9
Show member pathways
13.31 CSF2 CSF3 IL3 JAK2 KIT KITLG
10
Show member pathways
13.07 IL3 KIT KITLG LYN PDGFRA PDGFRB
11
Show member pathways
13.06 IL3 JAK2 KIT KITLG LYN PDGFRA
12
Show member pathways
12.94 CRKL CSF2 CSF3 FLT3 IFNA1 IFNA2
13
Show member pathways
12.9 CRKL JAK2 KIT KITLG LYN PDGFRA
14
Show member pathways
12.85 ABL1 IFNA1 IFNA2 IL3 PDGFRA
15
Show member pathways
12.74 ABL1 CRKL KIT KITLG PDGFRA PDGFRB
16
Show member pathways
12.73 KIT KITLG LYN PDGFRA PDGFRB
17 12.68 CSF3 IFNA1 IFNA2 IL3 JAK2 KIT
18
Show member pathways
12.57 CSF2 FLT3 IL3 JAK2 KIT PDGFRA
19
Show member pathways
12.54 CRKL CSF2 IFNA1 IFNA2 IL3
20 12.45 ABL1 BCR CRKL FLT3 KIT KITLG
21 12.42 CSF2 PDGFRA PDGFRB STAT5A
22
Show member pathways
12.42 KIT KITLG PDGFRA PDGFRB SLC22A1
23 12.41 IFNA1 IL3 IRF8 JAK2 KIT KITLG
24
Show member pathways
12.34 FLT3 IL3 JAK2 STAT5A
25
Show member pathways
12.33 CRKL IFNA1 IFNA2 JAK2 STAT5A
26 12.25 CSF2 FLT3 IL3 RUNX1
27 12.21 ABL1 CRKL JAK2 STAT5A
28
Show member pathways
12.21 CSF2 CSF3 IFNA1 IFNA2 IL3 JAK2
29 12.18 ABL1 IFNA1 IFNA2 JAK2
30
Show member pathways
12.17 CSF2 IL3 JAK2 LYN
31
Show member pathways
12.17 IFNA1 IFNA2 IL3 IRF8
32
Show member pathways
12.15 CRKL IL3 JAK2 KIT KITLG LYN
33
Show member pathways
12.1 CRKL JAK2 LYN STAT5A
34 12.09 IL3 KITLG PDGFRB RUNX1
35 11.98 CSF2 CSF3 FLT3 IFNA2 IL3 KIT
36 11.93 ABL1 IFNA1 IFNA2 IL3 JAK2 STAT5A
37
Show member pathways
11.92 CRKL JAK2 LYN STAT5A
38 11.92 CSF2 CSF3 FLT3 IL3 KIT KITLG
39
Show member pathways
11.86 CSF2 CSF3 JAK2
40 11.82 CSF2 FLT3 IFNA2 IRF8 KIT
41
Show member pathways
11.8 FLT3 KIT PDGFRB
42
Show member pathways
11.77 ABL1 BCR KIT PDGFRA PDGFRB
43 11.76 JAK2 LYN STAT5A
44 11.76 CRKL IL3 KITLG PDGFRA PDGFRB
45 11.72 FLT3 KIT PDGFRA PDGFRB
46 11.63 ABL1 LYN PDGFRB STAT5A
47 11.58 JAK2 LYN PDGFRB STAT5A
48 11.54 IL3 KIT KITLG
49 11.48 CSF2 CSF3 IL3 KITLG RUNX1 STAT5A
50 11.47 ABL1 BCR CRKL FLT3 JAK2 KIT

GO Terms for Leukemia, Chronic Myeloid, Somatic

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

id Name GO ID Score Top Affiliating Genes
1 extrinsic component of cytoplasmic side of plasma membrane GO:0031234 8.8 ABL1 JAK2 LYN

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

(show all 50)
id Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.97 IFNA1 IFNA2 JAK2 LYN
2 cellular response to lipopolysaccharide GO:0071222 9.97 ABL1 BCR CSF2 CSF3 IRF8
3 phosphatidylinositol-mediated signaling GO:0048015 9.94 KIT KITLG PDGFRA PDGFRB
4 phosphatidylinositol phosphorylation GO:0046854 9.93 KIT KITLG PDGFRA PDGFRB
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.93 ABL1 CSF3 IL3 JAK2 KITLG LYN
6 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.92 KIT KITLG PDGFRA PDGFRB
7 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.92 FLT3 KIT LYN PDGFRA PDGFRB
8 hemopoiesis GO:0030097 9.91 FLT3 KIT LYN RUNX1
9 cytokine-mediated signaling pathway GO:0019221 9.91 CSF3 FLT3 IFNA1 IFNA2 IL3 JAK2
10 positive regulation of MAP kinase activity GO:0043406 9.88 FLT3 KIT KITLG PDGFRB
11 cell chemotaxis GO:0060326 9.87 KIT PDGFRA PDGFRB
12 B cell differentiation GO:0030183 9.87 FLT3 IFNA1 IFNA2
13 type I interferon signaling pathway GO:0060337 9.86 IFNA1 IFNA2 IRF8
14 protein autophosphorylation GO:0046777 9.86 ABL1 BCR FLT3 JAK2 KIT LYN
15 peptidyl-tyrosine autophosphorylation GO:0038083 9.84 ABL1 JAK2 LYN
16 erythrocyte differentiation GO:0030218 9.84 JAK2 KIT LYN
17 positive regulation of DNA replication GO:0045740 9.84 CSF2 IL3 KITLG PDGFRA
18 B cell proliferation GO:0042100 9.83 ABL1 IFNA1 IFNA2
19 platelet-derived growth factor receptor signaling pathway GO:0048008 9.83 ABL1 BCR JAK2 PDGFRA PDGFRB
20 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.8 FLT3 KIT LYN PDGFRA PDGFRB
21 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.8 CSF3 FLT3 JAK2 KIT PDGFRA PDGFRB
22 embryonic hemopoiesis GO:0035162 9.77 IL3 KIT KITLG
23 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.77 JAK2 LYN STAT5A
24 dendritic cell differentiation GO:0097028 9.75 CSF2 FLT3 LYN
25 positive regulation of phospholipase C activity GO:0010863 9.73 KIT PDGFRA PDGFRB
26 negative regulation of cell-cell adhesion GO:0022408 9.71 ABL1 JAK2
27 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.71 JAK2 PDGFRB
28 cardiac myofibril assembly GO:0055003 9.7 PDGFRA PDGFRB
29 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.7 CSF2 FLT3 IFNA2 IL3 JAK2 KIT
30 positive regulation of cell proliferation GO:0008284 9.7 CRKL CSF2 CSF3 FLT3 IL3 JAK2
31 response to fluid shear stress GO:0034405 9.69 CSF2 PDGFRB
32 retina vasculature development in camera-type eye GO:0061298 9.68 PDGFRA PDGFRB
33 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 9.68 PDGFRA PDGFRB
34 ectopic germ cell programmed cell death GO:0035234 9.68 KIT KITLG
35 myeloid progenitor cell differentiation GO:0002318 9.67 FLT3 KIT
36 platelet-derived growth factor receptor-beta signaling pathway GO:0035791 9.66 ABL1 PDGFRB
37 metanephric glomerular capillary formation GO:0072277 9.65 PDGFRA PDGFRB
38 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.64 PDGFRA PDGFRB
39 positive regulation of mast cell proliferation GO:0070668 9.62 KITLG LYN
40 regulation of B cell receptor signaling pathway GO:0050855 9.39 LYN
41 peptidyl-tyrosine phosphorylation GO:0018108 9.36 ABL1 BCR CSF2 FLT3 IL3 JAK2
42 neutrophil differentiation GO:0030223 9.35 CSF2
43 phosphorylation GO:0016310 10.15 ABL1 BCR FLT3 JAK2 KIT LYN
44 intracellular signal transduction GO:0035556 10.11 BCR CRKL JAK2 KIT LYN PDGFRB
45 protein phosphorylation GO:0006468 10.11 ABL1 BCR FLT3 JAK2 KIT LYN
46 innate immune response GO:0045087 10.1 ABL1 IFNA1 IFNA2 JAK2 LYN
47 positive regulation of GTPase activity GO:0043547 10.1 BCR CSF2 IL3 JAK2 KIT KITLG
48 MAPK cascade GO:0000165 10.02 CSF2 IL3 JAK2 KIT KITLG PDGFRA
49 regulation of cell proliferation GO:0042127 10 ABL1 CSF2 JAK2 KIT
50 positive regulation of cell migration GO:0030335 10 JAK2 KIT LYN PDGFRA PDGFRB

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.91 ABL1 FLT3 JAK2 KIT LYN PDGFRA
2 kinase activity GO:0016301 9.86 ABL1 BCR FLT3 JAK2 KIT LYN
3 growth factor activity GO:0008083 9.8 CSF2 CSF3 IL3 KITLG
4 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.71 KIT KITLG PDGFRA PDGFRB
5 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.69 ABL1 JAK2 LYN
6 cytokine activity GO:0005125 9.63 CSF2 CSF3 IFNA1 IFNA2 IL3 KITLG
7 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.62 FLT3 KIT PDGFRA PDGFRB
8 platelet-derived growth factor receptor binding GO:0005161 9.61 LYN PDGFRA PDGFRB
9 regulatory region DNA binding GO:0000975 9.58 IRF8 RUNX1
10 platelet-derived growth factor binding GO:0048407 9.56 PDGFRA PDGFRB
11 signal transducer, downstream of receptor, with protein tyrosine kinase activity GO:0004716 9.54 KIT LYN
12 vascular endothelial growth factor-activated receptor activity GO:0005021 9.52 FLT3 PDGFRA
13 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.5 CSF2 IL3 JAK2 KIT KITLG PDGFRA
14 vascular endothelial growth factor binding GO:0038085 9.48 PDGFRA PDGFRB
15 protein tyrosine kinase activity GO:0004713 9.36 ABL1 BCR CSF2 FLT3 IL3 JAK2
16 protein binding GO:0005515 10.48 ABL1 BCR CRKL CSF2 FLT3 IFNA2
17 transferase activity GO:0016740 10.17 ABL1 BCR FLT3 JAK2 KIT LYN
18 ATP binding GO:0005524 10.11 ABL1 BCR FLT3 JAK2 KIT LYN

Sources for Leukemia, Chronic Myeloid, Somatic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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