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: B-cell acute lymphoblastic leukemia
Accession: DOID:0080638
browse the term
Definition: An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood. (DO)
Synonyms: exact_synonym: B acute lymphoblastic leukemia; B-cell acute lymphocytic leukemia
narrow_synonym: precursor B-cell acute lymphoblastic leukemia
related_synonym: B-cell acute lymphoblastic leukemia, susceptibility to
xref: EFO:0000094 ; MONDO:0020511 ; NCI:C8644
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ercc4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia
ClinVar
PMID:9580660 PMID:23623386 PMID:25741868 PMID:28492532
NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369 Ensembl chr10:2,419,038...2,448,369
G
Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia
ClinVar
PMID:9536098 PMID:17576681 PMID:23656349 PMID:25741868 PMID:28492532
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
G
Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia
ClinVar
PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 PMID:28811308 PMID:31970404 More...
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Abcg2
ATP binding cassette subfamily G member 2
susceptibility
ISO
DNA:SNPs,haplotype: :rs1481012,rs2231142(human)
RGD
PMID:21918980
RGD:11080977
NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409
G
Acoxl
acyl-CoA oxidase-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 3:115,061,069...115,367,032
Ensembl chr 3:115,061,060...115,364,686
G
Aicda
activation-induced cytidine deaminase
disease_progression
ISO
RGD
PMID:21133730
RGD:11039455
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
G
Apoe
apolipoprotein E
disease_progression
ISO
RGD
PMID:18784741
RGD:11040549
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
G
Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17968022
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437
G
Bcl11a
BCL11 transcription factor A
ISO
DNA:translocation:5' utr: (human)
RGD
PMID:11719382
RGD:11100004
NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
G
Bcl2
BCL2, apoptosis regulator
treatment severity no_association
ISO
DNA:snp:promoter:g.-938C>A (human) protein:increased expression:B cell (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21750559 PMID:23770605 PMID:17296974 PMID:16960146 PMID:17959858 PMID:20001236 More...
RGD:11522735 , RGD:11526104 , RGD:11526105 , RGD:11526110
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
G
Bmf
Bcl2 modifying factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 3:105,499,534...105,520,159
Ensembl chr 3:105,499,538...105,520,145
G
Btk
Bruton tyrosine kinase
treatment
ISO
RGD
PMID:23045577
RGD:11040699
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
G
Cbl
Cbl proto-oncogene
severity
ISO
mRNA,protein:increased expression:CD5+ B cell: DNA:hypophosphorylation:CD5+ B cell:
RGD
PMID:17804547 PMID:17804547
RGD:11038803 , RGD:11038803
NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176
G
Ccdc50
coiled-coil domain containing 50
ISO
RGD
PMID:19641524
RGD:9685139
NCBI chr11:73,332,798...73,395,333
Ensembl chr11:73,334,248...73,395,150
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Cd40
CD40 molecule
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
G
Cd40lg
CD40 ligand
ISO
mouse-human chimeric gene in human
RGD
PMID:20882050
RGD:11352235
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306
G
Cd5
Cd5 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr 1:216,790,245...216,811,209
Ensembl chr 1:207,365,337...207,386,313
G
Cd79b
CD79b molecule
ISO
protein:decreased expression:B lymphocyte, cell surface (human) mRNA, protein:splice variants, alternative forms:exon 3 (human) DNA:polymorphism:multiple (human)
RGD
PMID:9269755 PMID:10090943 PMID:10552962
RGD:11250403 , RGD:151665190 , RGD:151665202
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
G
Cd86
CD86 molecule
severity
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:25179679
RGD:11354969
NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818
G
Cpeb1
cytoplasmic polyadenylation element binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062064
NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
protein:increased expression:T cell
RGD
PMID:16094420 PMID:15914560
RGD:11344923 , RGD:11352246
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963
G
Dkc1
dyskerin pseudouridine synthase 1
ISO
RGD
PMID:18077792
RGD:11251735
G
Dnmt3b
DNA methyltransferase 3 beta
ISO
mRNA:decreased expression: B cell
RGD
PMID:15467427
RGD:9589146
NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:142,130,592...142,169,124
G
Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
severity
ISO
DNA:SNP: :p.K751Q (rs13181) (human)
RGD
PMID:22739018 PMID:19484764
RGD:11252203 , RGD:11252204
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
G
Farp2
FERM, ARH/RhoGEF and pleckstrin domain protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062064
NCBI chr 9:94,053,650...94,161,982
Ensembl chr 9:94,053,726...94,162,212
G
Fas
Fas cell surface death receptor
disease_progression
ISO
RGD
PMID:12901972
RGD:11049461
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
G
Fcgr3a
Fc gamma receptor 3A
no_association
ISO
DNA:SNP:exon:p.F158V (rs396991) (human)
RGD
PMID:14563637
RGD:11352260
NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921
G
Gnas
GNAS complex locus
disease_progression
ISO
DNA:polymorphism:393T>C (human)
RGD
PMID:17020971
RGD:1601379
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
G
Icam1
intercellular adhesion molecule 1
severity
ISO
RGD
PMID:7658704
RGD:11354983
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
G
Ifng
interferon gamma
susceptibility
ISO
DNA:polymorphism: :847A>T(human)
RGD
PMID:19757192
RGD:10755703
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
G
Il10
interleukin 10
disease_progression no_association
ISO
DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human) DNA:SNPs: :multiple protein:increased expression:serum
RGD
PMID:22945689 PMID:19573080 PMID:19573080 PMID:10638947
RGD:11041895 , RGD:11049165 , RGD:11049165 , RGD:11049174
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
G
Il19
interleukin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr13:44,949,989...44,958,714
Ensembl chr13:42,399,138...42,405,473
G
Il1a
interleukin 1 alpha
ISO
RGD
PMID:19074885
RGD:11051968
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
G
Il1b
interleukin 1 beta
severity
ISO
DNA:SNP:promoter:-511C>T (human) protein:decreased expression:plasma:
RGD
PMID:18271063 PMID:10870116
RGD:11051967 , RGD:11522755
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
G
Il1rn
interleukin 1 receptor antagonist
ISO
protein:decreased expression:plasma:
RGD
PMID:10870116
RGD:11522755
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
G
Il6
interleukin 6
ISO
protein:increased expression:plasma: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18006695 PMID:10870116
RGD:11522755
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
G
Irf4
interferon regulatory factor 4
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18758461 PMID:12393648 PMID:12079517
RGD:11526160 , RGD:11530024
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
G
Itga4
integrin subunit alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21093051
NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
G
Lef1
lymphoid enhancer binding factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 2:222,340,541...222,453,931
Ensembl chr 2:219,666,592...219,779,794
G
Mir143
microRNA 143
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17892514
NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
G
Mir145
microRNA 145
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17892514
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
G
Ms4a1
membrane spanning 4-domains A1
ISO
RGD
PMID:19911856
RGD:2316994
NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
G
Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16706930
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
G
P2rx7
purinergic receptor P2X 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11003599
NCBI chr12:33,889,709...33,934,168
Ensembl chr12:33,879,745...33,934,619
G
Pecam1
platelet and endothelial cell adhesion molecule 1
severity
ISO
protein:increased expression:B cell (human)
RGD
PMID:12673718
RGD:11541127
NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116
G
Plcg2
phospholipase C, gamma 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27542411
NCBI chr19:62,456,196...62,592,684
Ensembl chr19:45,547,416...45,683,930
G
Pmaip1
phorbol-12-myristate-13-acetate-induced protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr18:59,986,020...59,992,434
Ensembl chr18:59,986,017...59,992,429
G
Polb
DNA polymerase beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr16:69,379,438...69,402,710
Ensembl chr16:69,379,400...69,404,812
G
Ppp2r5c
protein phosphatase 2, regulatory subunit B', gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16038780
NCBI chr 6:129,461,689...129,598,344
Ensembl chr 6:129,461,648...129,598,346
G
Pramex1
PRAME like, X-linked 1
ISO
protein:increased expression:mononuclear cell (human)
RGD
PMID:16620968
RGD:11535021
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
G
Prkd2
protein kinase D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18758461
NCBI chr 1:77,513,625...77,542,386
Ensembl chr 1:77,513,986...77,542,376
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16314473
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
G
Qpct
glutaminyl-peptide cyclotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 6:15,964,656...15,996,730
Ensembl chr 6:15,964,657...15,996,711
G
Rbl2
RB transcriptional corepressor like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16038780
NCBI chr19:15,876,852...15,923,632
Ensembl chr19:15,876,853...15,923,572
G
Sf3b1
splicing factor 3b, subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158541
NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
G
Sp140
SP140 nuclear body protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18758461
NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542
G
Tert
telomerase reverse transcriptase
disease_progression
ISO
RGD
PMID:17344921
RGD:11038662
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
G
Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16904380
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
G
Thbd
thrombomodulin
ISO
RGD
PMID:21812019
RGD:5685033
NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:135,862,835...135,867,193
G
Tnf
tumor necrosis factor
disease_progression
ISO
protein:increased expression:bone marrow, blood, lymphocyte
RGD
PMID:12010662 PMID:22945689
RGD:10449463 , RGD:11041895
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
G
Tnfrsf10b
TNF receptor superfamily member 10b
susceptibility
ISO
DNA:missense mutation:cds:p.E228A (c.683A>C) (human) DNA:SNP: :1322A>G (human)
RGD
PMID:16217763 PMID:15531454
RGD:11038717 , RGD:11038718
NCBI chr15:51,249,883...51,278,091
Ensembl chr15:44,840,386...44,867,467
G
Tnfrsf11a
TNF receptor superfamily member 11A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16270354
NCBI chr13:22,442,930...22,501,257
Ensembl chr13:21,928,408...21,986,695
G
Tnfsf11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16270354
NCBI chr15:60,083,008...60,114,479
Ensembl chr15:53,673,877...53,705,445
G
Tnfsf13
TNF superfamily member 13
ISO
protein:increased expression:serum
RGD
PMID:15488762
RGD:1549466
NCBI chr10:54,898,805...54,901,815
Ensembl chr10:54,400,065...54,403,042
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:77,251,373...77,277,421
G
Topbp1
DNA topoisomerase II binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674
G
Tp53
tumor protein p53
disease_progression
ISO
DNA:deletion: : CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
CTD ClinVar RGD
PMID:8118819 PMID:9242456 PMID:9662334 PMID:10432928 PMID:10589545 PMID:10922393 PMID:11139324 PMID:11782540 PMID:12826609 PMID:15037740 PMID:16439677 PMID:16818505 PMID:17015838 PMID:17606709 PMID:18307025 PMID:19101993 PMID:20028212 PMID:20128691 PMID:20407015 PMID:20593220 PMID:20805372 PMID:21118481 PMID:21343334 PMID:21356188 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22822097 PMID:22869713 PMID:22915647 PMID:22923379 PMID:23246812 PMID:23484829 PMID:23630318 PMID:24065105 PMID:24573247 PMID:24702488 PMID:25256166 PMID:25404506 PMID:25741868 PMID:25765855 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27714481 PMID:27895058 PMID:27959731 PMID:28492532 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30816478 PMID:33300245 PMID:36988593 PMID:10867151 More...
RGD:11075074
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Vdr
vitamin D receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12446453
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
G
Xrcc1
X-ray repair cross complementing 1
severity no_association
ISO
DNA:SNP: :p.R399Q (rs25487) (human) DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human)
RGD
PMID:19484764 PMID:19484764
RGD:11252204 , RGD:11252204
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
treatment
ISO
RGD
PMID:21481795
RGD:11038814
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
G
Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568
G
Akr1c3
aldo-keto reductase family 1, member C3
treatment
ISO
RGD
PMID:26116659
RGD:11541128
NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
G
Atf7ip
activating transcription factor 7 interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413735
NCBI chr 4:169,385,872...169,471,652
Ensembl chr 4:169,385,872...169,471,650
G
Bcl2l1
Bcl2-like 1
severity
ISO
RGD
PMID:18216295
RGD:11531108
NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479 Ensembl chr 1:141,253,523...141,303,479
G
Bcr
BCR activator of RhoGEF and GTPase
ISO
BCR/ABL fusion
RGD
PMID:9310467
RGD:41404633
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
G
Brd2
bromodomain containing 2
ISO
RGD
PMID:14563639
RGD:9586345
NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
G
Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24154679
NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:20,802,199...20,805,734
G
Ccnd1
cyclin D1
ISO
mRNA:increased expression:B cell (mouse)
RGD
PMID:23169640
RGD:11353783
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
treatment susceptibility
ISO
DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human)
RGD
PMID:16618932 PMID:26104880 PMID:21622646
RGD:11251751 , RGD:11057958 , RGD:11251772
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
G
Cdkn2a_v2
cyclin-dependent kinase inhibitor 2A, variant 2
treatment
ISO
RGD
PMID:21622646 PMID:16618932
RGD:11251772 , RGD:11251751
G
Crlf2
cytokine receptor-like factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24141364
NCBI chr14:103,943...108,643
Ensembl chr14:103,939...108,642
G
Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
treatment
ISO
DNA:polymorphisms: :
RGD
PMID:21225912
RGD:11353807
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
G
Dux4
double homeobox 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27019113
NCBI chr16:1,558,430...1,570,045
Ensembl chr16:1,558,766...1,568,565
G
Etv6
ETS variant transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15217836 PMID:24413735 PMID:25807284
NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992
G
F13a1
coagulation factor XIII A1 chain
ISO
protein:increased expression:B lymphoblast:
RGD
PMID:16894461
RGD:11041855
NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
G
F3
coagulation factor III, tissue factor
treatment
ISO
RGD
PMID:19874310
RGD:11341694
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
G
Fh
fumarate hydratase
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:90,056,565...90,082,450
Ensembl chr13:87,524,337...87,550,266
G
Flt3
Fms related receptor tyrosine kinase 3
ISO
mRNA,protein:increased expression:bone marrow:
RGD
PMID:8562934
RGD:11049466
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
G
Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24141364
NCBI chr17:73,544,234...73,575,670
Ensembl chr17:68,643,873...68,665,391
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr16:74,133,259...74,145,328
Ensembl chr16:67,430,578...67,442,730
G
Ikzf1
IKAROS family zinc finger 1
disease_progression
ISO
DNA:mutations: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24141364 PMID:22699455
RGD:11075072
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
G
Il5
interleukin 5
ISO
RGD
PMID:15368290
RGD:7241068
NCBI chr10:38,375,132...38,378,003
Ensembl chr10:37,874,342...37,877,213
G
Irf4
interferon regulatory factor 4
ISO
RGD
PMID:25006123 PMID:20585039 PMID:21818355
RGD:11526159 , RGD:11530030 , RGD:11530020
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
G
Irf8
interferon regulatory factor 8
ISO
RGD
PMID:20585039
RGD:11530030
NCBI chr19:65,699,284...65,721,066
Ensembl chr19:48,790,588...48,811,829
G
Isx
intestine-specific homeobox
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr19:13,217,637...13,239,754
Ensembl chr19:13,218,552...13,239,760
G
Mga
MAX dimerization protein MGA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413735
NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043
G
Myb
MYB proto-oncogene, transcription factor
disease_progression
ISO
mRNA:splice variants:cds:
RGD
PMID:21853052
RGD:11532669
NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
G
Myc
MYC proto-oncogene, bHLH transcription factor
ISO
RGD
PMID:22120021
RGD:7207416
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
G
Pax5
paired box 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24013638 PMID:30643249
NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326
G
Pdgfra
platelet derived growth factor receptor alpha
treatment
ISO
RGD
PMID:22447844
RGD:11075097
NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335
G
Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302
G
Runx1
RUNX family transcription factor 1
onset
ISO
DNA:amplification CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15217836 PMID:24413735 PMID:21822204
RGD:6482828
NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542
G
Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19796711
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
G
Stat5a
signal transducer and activator of transcription 5A
ISO
protein:increased phosphorylation:bone marrow (human)
RGD
PMID:27018255
RGD:151665817
NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
G
Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:26080840 PMID:26295973 PMID:28492532
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
G
Sufu
SUFU negative regulator of hedgehog signaling
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
G
Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
G
Tdo2
tryptophan 2,3-dioxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr 2:167,269,581...167,287,511
Ensembl chr 2:167,269,579...167,287,511
G
Tfpi
tissue factor pathway inhibitor
treatment
ISO
RGD
PMID:19874310
RGD:11341694
NCBI chr 3:89,939,862...89,989,253
Ensembl chr 3:69,533,156...69,576,880
G
Tnfsf13
TNF superfamily member 13
ISO
RGD
PMID:15488762
RGD:1549466
NCBI chr10:54,898,805...54,901,815
Ensembl chr10:54,400,065...54,403,042
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:77,251,373...77,277,421
G
Tp53
tumor protein p53
disease_progression
ISO
DNA:mutations: :
RGD
PMID:22699455
RGD:11075072
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
G
Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia
ClinVar
PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 PMID:28811308 PMID:31970404 More...
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Mixed phenotype acute leukemia with t(v;11q23.3)
ClinVar
PMID:25741868
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1
ClinVar
PMID:22658618 PMID:25741868 PMID:28492532
NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Bmpr1a
bone morphogenetic protein receptor type 1A
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
ClinVar
PMID:25741868 PMID:28492532 PMID:30093976 PMID:35534704 PMID:35957908
NCBI chr16:9,740,751...9,786,861
Ensembl chr16:9,736,630...9,780,616
G
Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
ClinVar
PMID:25085752 PMID:25741868 PMID:28492532 PMID:33471991
NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
G
Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302
G
Recql4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
ClinVar
PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15897384 PMID:15964893 PMID:18716613 PMID:20113479 PMID:25741868 PMID:28492532 PMID:29367366 PMID:31829210 More...
NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cbl
Cbl proto-oncogene
ISO
ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: B-lymphoblastic leukemia/lymphoma with hypodiploidy
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:28546994 PMID:38473309
NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535
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