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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:chronic myeloid leukemia
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Accession:DOID:8552 term browser browse the term
Definition:A myeloid leukemia that is characterized by over production of white blood cells. (DO)
Synonyms:exact_synonym: CML;   CML - chronic myelogenous leukemia;   Chronic Myeloid Leukemias;   PH1-positive myeloid leukemia;   PH1-positive myeloid leukemias;   Ph1-positive myelogenous leukemia;   Ph1-positive myelogenous leukemias;   Philadelphia-positive myeloid leukemia;   chronic granulocytic leukaemia;   chronic granulocytic leukemia;   chronic granulocytic leukemias;   chronic myelocytic leukemia;   chronic myelocytic leukemias;   chronic myelogenous leukaemia;   chronic myelogenous leukemia;   chronic myelogenous leukemia, BCR-ABL positive;   chronic myelogenous leukemias;   chronic myeloid leukaemia
 narrow_synonym: CHRONIC MYELOID LEUKEMIA, RESISTANT TO IMATINIB;   Philadelphia chromosome-positive leukemia, resistant to imatinib
 broad_synonym: ABL1-RELATED CONDITION;   ABL1-RELATED DISORDER
 primary_id: MESH:D015464
 alt_id: OMIM:608232
 xref: EFO:0000339;   EFO:0000340;   GARD:6105;   ICD9CM:205.1;   ICDO:9863/3;   NCI:C3174;   ORDO:521
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
chronic myeloid leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A treatment
susceptibility
ISO DNA:SNPs: :1236T>C,2677G>A(human)
DNA:SNP, haplotype: :3435C>T (human)
RGD PMID:24581936 PMID:26250462 RGD:11081178, RGD:11081180 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 treatment ISO DNA:haploltype: :-24C>T, 1249G>A, 3972C>T(human) RGD PMID:25060527 RGD:11080961 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 treatment
susceptibility
ISO DNA:SNP: :421C>A(human)
DNA:haplotype:cds: p.Q141K,p.V12M,(rs2231142),(rs2725252)(human)
DNA:SNP,haplotype: :C>A421(human)
RGD PMID:24581936 PMID:24123600 PMID:26250462 RGD:11081178, RGD:11081181, RGD:11081180 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase susceptibility
treatment
ISO ClinVar Annotator: match by term: ABL1-Related Disorder | ClinVar Annotator: match by term: Leukemia, Philadelphia chromosome-positive, resistant to imatinib
CTD Direct Evidence: marker/mechanism
DNA:gene fusion
DNA:missense mutations: :multiple
ClinVar
CTD
OMIM
RGD
PMID:10988075 PMID:11423618 PMID:11569495 PMID:11853795 PMID:11861307 More... RGD:1598673, RGD:13674161, RGD:11038814, RGD:14392796, RGD:11038807 NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
JBrowse link
G Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase TAS RGD PMID:7773298 RGD:1298615 NCBI chr13:68,673,702...68,770,846
Ensembl chr13:68,673,722...68,839,742
JBrowse link
G Ace angiotensin I converting enzyme ISO RGD PMID:19761684 RGD:11039056 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Agt angiotensinogen ISO RGD PMID:19761684 RGD:11039056 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO protein:increased phosphorylation:blood RGD PMID:17900686 RGD:13674160 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: therapeutic CTD PMID:19503090 PMID:19823023 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO RGD PMID:20728382 RGD:11353850 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
JBrowse link
G Bcr BCR activator of RhoGEF and GTPase susceptibility
treatment
disease_progression
ISO DNA:gene fusion
CTD Direct Evidence: marker/mechanism
BCR/ABL fusion
DNA:methylation: :
DNA:translocations:cds:
CTD
OMIM
RGD
PMID:15604220 PMID:18673174 PMID:21908430 PMID:33070465 PMID:3101769 More... RGD:1600510, RGD:41404631, RGD:13674161, RGD:14392796, RGD:11038783, RGD:11038776, RGD:11038775 NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:16254145 NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
JBrowse link
G Bmal1 basic helix-loop-helix ARNT like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:24033266 PMID:24446311 PMID:25157968 PMID:26619011 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Car9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
JBrowse link
G Casp6 caspase 6 treatment ISO human cells in mouse model RGD PMID:31952546 RGD:151667904 NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502
JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:peripheral blood, dendritic cell (human) RGD PMID:16527350 RGD:11520794 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO Protein:increased expression:Blood, common myeloid progenitor, CD34-positive RGD PMID:20200561 RGD:13673878 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment ISO RGD PMID:16533530 RGD:11251777 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 treatment ISO RGD PMID:16533530 RGD:11251777
G Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 treatment ISO RGD PMID:16533530 RGD:11251777
G Chordc1 cysteine and histidine rich domain containing 1 ISS OMIM:608232 MouseDO NCBI chr 8:15,374,356...15,398,436
Ensembl chr 8:15,374,471...15,399,162
JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO protein:increased phosphorylation:blood RGD PMID:17900686 RGD:13674160 NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
JBrowse link
G Cry1 cryptochrome circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 7:18,529,823...18,594,092
Ensembl chr 7:18,529,823...18,594,091
JBrowse link
G Cry2 cryptochrome circadian regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 3:78,374,995...78,405,001
Ensembl chr 3:78,374,995...78,404,965
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 treatment ISO DNA:polymorphism:cds:4889A>G(p.I462V)(human) RGD PMID:26464823 RGD:11352729 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 susceptibility
treatment
ISO DNA:polymorphism:intron :6986A>G (human)
DNA:SNP:: (rs776746) (human)
RGD PMID:21039054 PMID:19584153 RGD:11353798, RGD:11353810 NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
JBrowse link
G Dnmt1 DNA methyltransferase 1 disease_progression ISO RGD PMID:11222358 RGD:9588667 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha disease_progression ISO RGD PMID:11222358 RGD:9588667 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta disease_progression ISO RGD PMID:11222358 RGD:9588667 NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
JBrowse link
G E2f1 E2F transcription factor 1 ISO mRNA:increased expression:blood RGD PMID:26460262 RGD:13674165 NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:polymorphism: :p.K751Q (human)
DNA:polymorphism: :p.K751Q (rs13181) (human)
RGD PMID:24955348 PMID:25311495 RGD:11252188, RGD:11060463 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO mRNA:increased expression:bone marrow mononuclear cells (human) RGD PMID:27070757 RGD:13782088 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:polymorphisms, haplotype:promoter: -670 G>A, -1377 G>A (human) RGD PMID:26563376 RGD:11049146 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand susceptibility ISO DNA:polymorphism:promoter: -844 T>C(human) RGD PMID:26563376 RGD:11049146 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO RGD PMID:8632671 RGD:11344957 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO mRNA:increased expression:peripheral blood (human) RGD PMID:14562121 RGD:36947884 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Gab2 GRB2-associated binding protein 2 disease_progression ISO protein:increased expression:bone marrow RGD PMID:22858987 RGD:13699433 NCBI chr 1:151,429,844...151,625,708
Ensembl chr 1:151,429,695...151,625,031
JBrowse link
G Gpx1 glutathione peroxidase 1 no_association ISO DNA:polymorphism: :p.P198L (human) RGD PMID:25436036 RGD:11352762 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20843134 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Hes1 hes family bHLH transcription factor 1 IMP rat gene in a mouse model RGD PMID:19861684 RGD:9685380 NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
JBrowse link
G Hmmr hyaluronan-mediated motility receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr10:25,132,933...25,163,029
Ensembl chr10:25,132,977...25,163,060
JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:22139798 RGD:10755566 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23777986 NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:20305143 RGD:11049154 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il1b interleukin 1 beta severity ISO RGD PMID:7949186 RGD:10450889 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist severity ISO RGD PMID:7949186 RGD:10450889 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:2278970 PMID:3122217 PMID:8439212 PMID:15696205 PMID:16361624 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO CTD Direct Evidence: therapeutic CTD PMID:16818652 NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
JBrowse link
G Mdm2 MDM2 proto-oncogene onset ISO DNA:SNP:promoter:rs2279744(human) RGD PMID:23818300 RGD:13703044 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
JBrowse link
G Mir150 microRNA 150 ISO miRNA:decreased expression:leukocytes RGD PMID:21501493 RGD:13782140 NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108
JBrowse link
G Mlf1 myeloid leukemia factor 1 ISO RGD PMID:15659732 RGD:1600902 NCBI chr 2:151,648,492...151,681,654
Ensembl chr 2:151,648,511...151,681,652
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:17156840 RGD:10449408 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Ncstn nicastrin ISS OMIM:608232 MouseDO NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
JBrowse link
G Npm1 nucleophosmin 1 ISO RGD PMID:15659732 RGD:1600902 NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO DNA:SNP: :609C>T (human) RGD PMID:16235982 RGD:10769357 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:2278970 PMID:2674680 PMID:3122217 PMID:8120410 PMID:12460918 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:serum (human) RGD PMID:16521495 RGD:11552593 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Per1 period circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
JBrowse link
G Per2 period circadian regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459
JBrowse link
G Per3 period circadian regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 5:161,460,228...161,495,404
Ensembl chr 5:161,459,533...161,495,607
JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO mRNA:increased expression:mononuclear cell (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17157168 PMID:20838376 RGD:11535035 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096
JBrowse link
G Prtn3 proteinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944
JBrowse link
G RT1-Ba RT1 class II, locus Ba onset ISO DNA:polymorphism, haplotype RGD PMID:17893434 PMID:17387388 RGD:11041777, RGD:11041781 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism, haplotype RGD PMID:17893434 RGD:11041777 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:18398855 PMID:18414213 PMID:20436468 PMID:21371013 PMID:23222956 More... NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:23395771 PMID:25741868 NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISS OMIM:608232 MouseDO NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISS OMIM:608232 MouseDO NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591
JBrowse link
G Smad4 SMAD family member 4 ISO mRNA:decreased expression:blood RGD PMID:29951173 RGD:13782079 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Srsf1 serine and arginine rich splicing factor 1 ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23228155 RGD:11038774 NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
JBrowse link
G Stat5a signal transducer and activator of transcription 5A disease_progression
treatment
ISO human cells in mouse model
mRNA:increased expression:PBMC (human)
RGD PMID:16522816 PMID:31952546 PMID:31952546 RGD:151667903, RGD:151667904, RGD:151667904 NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17157168 PMID:15068898 RGD:11038663 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:serum RGD PMID:29951173 RGD:13782079 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Usp15 ubiquitin specific peptidase 15 ISO mRNA, protein:decreased expression:PBMC (human) RGD PMID:31952546 RGD:151667904 NCBI chr 7:58,756,714...58,848,778
Ensembl chr 7:58,756,872...58,848,721
JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO DNA:SNP,haplotype: :(rs6999470),(rs833061)(human) RGD PMID:19141860 RGD:13432135 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:SNP:cds :p.R194W(human) RGD PMID:26250462 RGD:11081180 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
JBrowse link
Blast Crisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21570118 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21570118 NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:12740446 RGD:734951 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:22139798 RGD:10755566 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Mir150 microRNA 150 ISO miRNA:decreased expression:leukocytes RGD PMID:21501493 RGD:13782140 NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108
JBrowse link
G Tcn2 transcobalamin 2 ISO protein:increased expression:: RGD PMID:1059479 RGD:11060122 NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
JBrowse link
chronic myelogenous leukemia, BCR-ABL1 positive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:10988075 PMID:11423618 PMID:11567109 PMID:11569495 PMID:11853795 More... NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:25741868 PMID:28492532 NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:24033266 PMID:24446311 PMID:25157968 PMID:26619011 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Csf3r colony stimulating factor 3 receptor ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:23604229 PMID:23634996 PMID:23656643 PMID:24081659 PMID:24403076 More... NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:16307017 PMID:22703879 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:2278970 PMID:3122217 PMID:8439212 PMID:15696205 PMID:16361624 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:2278970 PMID:2674680 PMID:3122217 PMID:8120410 PMID:12460918 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:18398855 PMID:18414213 PMID:20436468 PMID:21371013 PMID:23222956 More... NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:23395771 PMID:25741868 NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
JBrowse link
familial chronic myelocytic leukemia-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf8 interferon regulatory factor 8 ISS OMIM:600080 MouseDO NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
JBrowse link
Myeloid Leukemia, Accelerated Phase term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:24571310 NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
JBrowse link
G Mir150 microRNA 150 ISO miRNA:decreased expression:leukocytes RGD PMID:21501493 RGD:13782140 NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108
JBrowse link
Myeloid Leukemia, Chronic-Phase term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase disease_progression ISO DNA:hypermethylation:promoter RGD PMID:19344397 PMID:11559572 RGD:11038809, RGD:11038811 NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
JBrowse link
G Bcr BCR activator of RhoGEF and GTPase disease_progression ISO RGD PMID:19344397 RGD:11038809 NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 treatment ISO DNA:polymorphism:intron :6986A>G (human) RGD PMID:23394475 RGD:11353797 NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO DNA:SNP: :rs11615 (human) RGD PMID:22821389 RGD:11252165 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor disease_progression ISO mRNA,protein:increased expression:mononuclea cell, CD34+ cell RGD PMID:19887785 PMID:23411466 RGD:11040457, RGD:11040461 NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:blood: RGD PMID:19360458 RGD:11040460 NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7691
      Neoplasms by Histologic Type 5287
        leukemia 625
          myeloid leukemia 417
            chronic myeloid leukemia 92
              Blast Crisis 6
              Myeloid Leukemia, Accelerated Phase 2
              Myeloid Leukemia, Chronic-Phase 6
              chronic myelogenous leukemia, BCR-ABL1 positive 12
              familial chronic myelocytic leukemia-like syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3849
        hematopoietic system disease 3339
          Hematologic Neoplasms 1050
            Bone Marrow Neoplasms 509
              bone marrow cancer 509
                myeloid neoplasm 326
                  chronic myeloid leukemia 92
                    Blast Crisis 6
                    Myeloid Leukemia, Accelerated Phase 2
                    Myeloid Leukemia, Chronic-Phase 6
                    chronic myelogenous leukemia, BCR-ABL1 positive 12
                    familial chronic myelocytic leukemia-like syndrome 1
paths to the root