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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;   EFO:0000339;   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: MIM: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 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 susceptibility
treatment		 ISO DNA:SNP, haplotype: :3435C>T (human)
DNA:SNPs: :1236T>C,2677G>A(human)		 RGD PMID:24581936 PMID:26250462 RGD:11081178 RGD:11081180 NCBI chr 9:93,049,955...93,146,469 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 chr14:110,955,698...111,038,898
Ensembl chr14:110,955,582...111,038,898 		JBrowse link
G ABCG2A ATP binding cassette subfamily G member 2A treatment
susceptibility		 ISO DNA:SNP: :421C>A(human)
DNA:SNP,haplotype: :C>A421(human)
DNA:haplotype:cds: p.Q141K,p.V12M,(rs2231142),(rs2725252)(human)		 RGD PMID:24123600 PMID:24581936 PMID:26250462 RGD:11081178 RGD:11081180 RGD:11081181 NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,775,444...130,945,393 		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
DNA:missense mutations: :multiple		 OMIM
ClinVar
RGD		 PMID:3021820 PMID:10988075 PMID:11423618 PMID:11569495 PMID:11853795 More... RGD:11038807 RGD:11038814 RGD:1598673 NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708 		JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO RGD PMID:19761684 RGD:11039056 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G AGT angiotensinogen ISO RGD PMID:19761684 RGD:11039056 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO protein:increased phosphorylation:blood RGD PMID:17900686 RGD:13674160
G ALOX5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: therapeutic CTD PMID:19503090 PMID:19823023 NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,859,019...90,907,090 		JBrowse link
G ARNTL aryl hydrocarbon receptor nuclear translocator like ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 2:45,895,637...46,025,174
Ensembl chr 2:45,895,289...45,988,570 		JBrowse link
G BCL2L1 BCL2 like 1 ISO RGD PMID:20728382 RGD:11353850 NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase treatment
susceptibility
disease_progression		 ISO BCR/ABL fusion
DNA:gene fusion
DNA:translocations:cds:
DNA:methylation: :		 OMIM
RGD		 PMID:2683759 PMID:3101769 PMID:7683349 PMID:12613514 RGD:11038776 RGD:11038783 RGD:1600510 RGD:41404631 NCBI chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,103 		JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:16254145 NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,279...3,755,215 		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 chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		JBrowse link
G CA9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,394,306...236,400,822 		JBrowse link
G CASP6 caspase 6 treatment ISO human cells in mouse model RGD PMID:31952546 RGD:151667904 NCBI chr 8:112,519,450...112,534,315
Ensembl chr 8:112,520,629...112,537,045 		JBrowse link
G CD36 CD36 molecule ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105 		JBrowse link
G CD40 CD40 molecule ISO protein:increased expression:peripheral blood, dendritic cell (human) RGD PMID:16527350 RGD:11520794 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		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 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A treatment ISO RGD PMID:16533530 RGD:11251777 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		JBrowse link
G CHORDC1 cysteine and histidine rich domain containing 1 ISO OMIM:608232 MouseDO NCBI chr 9:23,187,770...23,208,592
Ensembl chr 9:23,181,850...23,208,683 		JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein ISO protein:increased phosphorylation:blood RGD PMID:17900686 RGD:13674160 NCBI chr14:50,528,950...50,558,664
Ensembl chr14:50,528,955...50,558,662 		JBrowse link
G CRY1 cryptochrome circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 5:13,275,265...13,429,566
Ensembl chr 5:13,275,545...13,364,593 		JBrowse link
G CRY2 cryptochrome circadian regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 2:16,587,101...16,620,380
Ensembl chr 2:16,587,109...16,620,385 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 treatment ISO DNA:polymorphism:cds:4889A>G(p.I462V)(human) RGD PMID:26464823 RGD:11352729 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775 		JBrowse link
G CYP3A22 cytochrome P450 family 3 subfamily A member 22 treatment
susceptibility		 ISO DNA:SNP:: (rs776746) (human)
DNA:polymorphism:intron :6986A>G (human)		 RGD PMID:19584153 PMID:21039054 RGD:11353798 RGD:11353810 NCBI chr 3:6,617,256...6,665,179
Ensembl chr 3:6,615,343...6,822,817 		JBrowse link
G DNMT1 DNA methyltransferase 1 disease_progression ISO RGD PMID:11222358 RGD:9588667 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha disease_progression ISO RGD PMID:11222358 RGD:9588667 NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,603,087 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression ISO RGD PMID:11222358 RGD:9588667 NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072 		JBrowse link
G E2F1 E2F transcription factor 1 ISO mRNA:increased expression:blood RGD PMID:26460262 RGD:13674165 NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,599...37,189,883 		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:11060463 RGD:11252188 NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		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 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941 		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 chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FASLG Fas ligand susceptibility ISO DNA:polymorphism:promoter: -844 T>C(human) RGD PMID:26563376 RGD:11049146 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO mRNA:increased expression:peripheral blood (human) RGD PMID:14562121 RGD:36947884 NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964 		JBrowse link
G GAB2 GRB2 associated binding protein 2 disease_progression ISO protein:increased expression:bone marrow RGD PMID:22858987 RGD:13699433 NCBI chr 9:12,663,658...12,851,423
Ensembl chr 9:12,663,657...12,851,342 		JBrowse link
G GPX1 glutathione peroxidase 1 no_association ISO DNA:polymorphism: :p.P198L (human) RGD PMID:25436036 RGD:11352762 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433 		JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO rat gene in a mouse model RGD PMID:19861684 RGD:9685380 NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,725...131,138,237 		JBrowse link
G HMMR hyaluronan mediated motility receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr16:60,290,684...60,332,411
Ensembl chr16:60,290,001...60,331,936 		JBrowse link
G HMOX1 heme oxygenase 1 ISO RGD PMID:22139798 RGD:10755566
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23777986 NCBI chr 1:265,930,044...265,934,959
Ensembl chr 1:265,930,045...265,934,894 		JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:20305143 RGD:11049154 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL1RN interleukin 1 receptor antagonist severity ISO RGD PMID:7949186 RGD:10450889
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 1:216,792,785...216,820,197
Ensembl chr 1:216,792,787...216,823,479 		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 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148 		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 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G LOC100739508 glutathione S-transferase P-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:20843134 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G LOC110258578 interleukin-1 beta-like severity ISO RGD PMID:7949186 RGD:10450889
G MAPK14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: therapeutic CTD PMID:16818652 NCBI chr 7:31,791,398...31,861,544
Ensembl chr 7:31,790,877...31,862,031 		JBrowse link
G MDM2 MDM2 proto-oncogene onset ISO DNA:SNP:promoter:rs2279744(human) RGD PMID:23818300 RGD:13703044 NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,105,759...33,137,739 		JBrowse link
G MIR150-1 microRNA mir-150-1 ISO miRNA:decreased expression:leukocytes RGD PMID:21501493 RGD:13782140 NCBI chr 6:54,580,912...54,580,988
Ensembl chr 6:54,580,912...54,580,988 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:17156840 RGD:10449408 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G NCSTN nicastrin ISO OMIM:608232 MouseDO NCBI chr 4:90,121,209...90,142,934
Ensembl chr 4:90,119,002...90,142,890 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO DNA:SNP: :609C>T (human) RGD PMID:16235982 RGD:10769357 NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590 		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 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:serum (human) RGD PMID:16521495 RGD:11552593 NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293 		JBrowse link
G PER1 period circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr12:53,361,863...53,376,723
Ensembl chr12:53,361,889...53,374,248 		JBrowse link
G PER2 period circadian regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr15:137,793,419...137,837,854
Ensembl chr15:137,793,422...137,837,070 		JBrowse link
G PER3 period circadian regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 6:68,487,634...68,548,718 JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator ISO mRNA:increased expression:mononuclear cell (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17157168 PMID:20838376 RGD:11535035 NCBI chr14:48,901,097...48,906,855
Ensembl chr14:48,899,343...48,911,231 		JBrowse link
G PRTN3 proteinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr 2:77,520,314...77,526,303
Ensembl chr 2:77,520,314...77,523,563 		JBrowse link
G SF3B1 splicing factor 3b subunit 1 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:23395771 PMID:25741868 NCBI chr15:101,274,968...101,338,018
Ensembl chr15:101,276,851...101,299,105 		JBrowse link
G SH2B3 SH2B adaptor protein 3 ISO OMIM:608232 MouseDO NCBI chr14:32,623,286...32,664,606
Ensembl chr14:32,623,286...32,664,606 		JBrowse link
G SIPA1 signal-induced proliferation-associated 1 ISO OMIM:608232 MouseDO NCBI chr 2:6,606,613...6,618,556
Ensembl chr 2:6,606,626...6,618,566 		JBrowse link
G SMAD4 SMAD family member 4 ISO mRNA:decreased expression:blood RGD PMID:29951173 RGD:13782079 NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029 		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 chr12:34,278,363...34,282,164
Ensembl chr12:34,272,956...34,282,162 		JBrowse link
G STAT5A signal transducer and activator of transcription 5A treatment
disease_progression		 ISO human cells in mouse model
mRNA:increased expression:PBMC (human)		 RGD PMID:16522816 PMID:31952546 RGD:151667903 RGD:151667904 NCBI chr12:20,474,221...20,498,785
Ensembl chr12:20,474,227...20,499,138 		JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15068898 PMID:17157168 RGD:11038663 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO protein:increased expression:serum RGD PMID:29951173 RGD:13782079 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G USP15 ubiquitin specific peptidase 15 ISO mRNA, protein:decreased expression:PBMC (human) RGD PMID:31952546 RGD:151667904 NCBI chr 5:26,964,380...27,082,549
Ensembl chr 5:26,964,553...27,097,444 		JBrowse link
G VEGFA vascular endothelial growth factor A susceptibility ISO DNA:SNP,haplotype: :(rs6999470),(rs833061)(human) RGD PMID:19141860 RGD:13432135 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997 		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 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729 		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 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21570118 NCBI chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,103 		JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:12740446 RGD:734951 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565 		JBrowse link
G HMOX1 heme oxygenase 1 ISO RGD PMID:22139798 RGD:10755566
G MIR150-1 microRNA mir-150-1 ISO miRNA:decreased expression:leukocytes RGD PMID:21501493 RGD:13782140 NCBI chr 6:54,580,912...54,580,988
Ensembl chr 6:54,580,912...54,580,988 		JBrowse link
G TCN2 transcobalamin 2 ISO protein:increased expression:: RGD PMID:1059479 RGD:11060122 NCBI chr14:47,496,245...47,515,966
Ensembl chr14:47,502,715...47,515,965 		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 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708 		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 chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,103 		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 chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		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 6:92,550,159...92,565,798
Ensembl chr 6:92,550,161...92,565,477 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,725...136,464,940 		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 1:216,792,785...216,820,197
Ensembl chr 1:216,792,787...216,823,479 		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 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148 		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 chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734 		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 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		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 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227 		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 chr 1:94,295,332...94,666,560
Ensembl chr 1:94,295,851...94,663,017 		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 chr15:101,274,968...101,338,018
Ensembl chr15:101,276,851...101,299,105 		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 ISO OMIM:600080 MouseDO NCBI chr 6:3,041,617...3,060,685
Ensembl chr 6:3,041,645...3,097,406 		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 chr10:52,586,089...52,596,154
Ensembl chr10:52,586,509...52,596,564 		JBrowse link
G MIR150-1 microRNA mir-150-1 ISO miRNA:decreased expression:leukocytes RGD PMID:21501493 RGD:13782140 NCBI chr 6:54,580,912...54,580,988
Ensembl chr 6:54,580,912...54,580,988 		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:11559572 PMID:19344397 RGD:11038809 RGD:11038811 NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase disease_progression ISO RGD PMID:19344397 RGD:11038809 NCBI chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,103 		JBrowse link
G CYP3A22 cytochrome P450 family 3 subfamily A member 22 treatment ISO DNA:polymorphism:intron :6986A>G (human) RGD PMID:23394475 RGD:11353797 NCBI chr 3:6,617,256...6,665,179
Ensembl chr 3:6,615,343...6,822,817 		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 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984 		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 chr 4:124,619,887...124,629,638
Ensembl chr 4:124,621,261...124,629,638 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:blood: RGD PMID:19360458 RGD:11040460 NCBI chr 1:272,701,386...272,715,551
Ensembl chr 1:272,702,184...272,715,539 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15390
    disease of cellular proliferation 7396
      Neoplasms by Histologic Type 5125
        leukemia 629
          myeloid leukemia 427
            chronic myeloid leukemia 84
              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 15390
    disease of anatomical entity 15084
      Hemic and Lymphatic Diseases 4087
        hematopoietic system disease 3612
          Hematologic Neoplasms 1020
            Bone Marrow Neoplasms 469
              bone marrow cancer 469
                myeloid neoplasm 285
                  chronic myeloid leukemia 84
                    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