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: acute lymphoblastic leukemia
Accession: DOID:9952
browse the term
Definition: A acute leukemia that is characterized by over production of lymphoblasts. (DO)
Synonyms: exact_synonym: ALL; ALL2; EFO:0000220 ; L1 Lymphocytic Leukemia; L2 Lymphocytic Leukemia; acute lymphoblastic leukaemia; acute lymphoblastic leukemia, L1; acute lymphoblastic leukemia, L2; acute lymphoblastic leukemia, Philadelphia-positive; acute lymphoblastic leukemia, adult; acute lymphocytic leukaemia; acute lymphocytic leukemia; acute lymphocytic leukemia, L1; acute lymphocytic leukemia, L2; acute lymphoid leukemia; lymphoblastic leukemia; lymphoblastic leukemias; precursor cell lymphoblastic leukemia-lymphoma; precursor lymphoblastic lymphoma/leukemia
narrow_synonym: ALL1; ALL3; LEUKEMIA, ACUTE LYMPHOBLASTIC, B-HYPERDIPLOID, SUSCEPTIBILITY TO
related_synonym: acute lymphoblastic leukemia, susceptibility to; acute lymphoblastic leukemia, susceptibility to, 1; acute lymphoblastic leukemia, susceptibility to, 2; acute lymphoblastic leukemia, susceptibility to, 3; acute lymphocytic leukemia, susceptibility to, 1; acute lymphocytic leukemia, susceptibility to, 2
alt_id: DOID:5600; DOID:9006123
xref: EFO:0000219 ; EFO:0000220 ; EFO:0009119 ; GARD:522 ; ICD10CM:C91.00 ; ICD9CM:204.0 ; MESH:D054198 ; MIM:613065 ; MIM:613067 ; MIM:615545 ; MONDO:0004967 ; NCI:C3167 ; NCI:C7055 ; ORDO:513
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ABCB1
ATP binding cassette subfamily B member 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:snps, haplotype:multiple (human)
CTD RGD
PMID:22674224
RGD:8657089
NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274
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ABCC2
ATP binding cassette subfamily C member 2
treatment
ISO
DNA:SNPs: :rs717620(human) DNA:SNP:5'UTR:rs717620(human)
RGD
PMID:24404132 PMID:25007187
RGD:11080959 RGD:11080979
NCBI chr 9:92,826,423...92,902,389
Ensembl chr 9:92,841,818...92,902,265
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ABCG2
ATP binding cassette subfamily G member 2 (JR blood group)
disease_progression
ISO
mRNA:increased expression:mononuclear cell:
RGD
PMID:12100141 PMID:15521915
RGD:11081076 RGD:11081143
NCBI chr 7:36,458,110...36,599,753
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ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11984797 PMID:21898527
NCBI chr12:7,258,932...7,435,658
Ensembl chr12:7,256,648...7,312,734
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ABO
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
susceptibility
ISO
RGD
PMID:17065136
RGD:11100012
NCBI chr12:4,863,100...4,892,204
Ensembl chr12:4,863,165...4,885,849
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AICDA
activation induced cytidine deaminase
treatment
ISO
RGD
PMID:19759560
RGD:11039451
NCBI chr11:8,426,920...8,438,331
Ensembl chr11:8,428,922...8,431,641
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ARID5B
AT-rich interaction domain 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19684603 PMID:19684604
NCBI chr 9:69,190,100...69,382,448
Ensembl chr 9:69,190,045...69,382,069
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ARNT
aryl hydrocarbon receptor nuclear translocator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
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BAX
BCL2 associated X, apoptosis regulator
ISO
OMIM
NCBI chr 6:42,186,028...42,193,105
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BCL2
BCL2 apoptosis regulator
severity
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:25982455
RGD:11076595
NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
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BCL2L1
BCL2 like 1
treatment
ISO
mRNA:increased expression:blood, mononuclear cell (human)
RGD
PMID:12469194 PMID:19020783
RGD:11353852 RGD:11353866
NCBI chr 2:36,059,024...36,118,332
Ensembl chr 2:36,058,919...36,116,470
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BCR
BCR activator of RhoGEF and GTPase
ISO
OMIM
NCBI chr19:2,569,841...2,703,703
Ensembl chr19:2,566,190...2,702,920
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CASP8
caspase 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22010212
NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829
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CAST
calpastatin
ISO
protein:increased expresssion:B cell
RGD
PMID:11264179
RGD:5509822
NCBI chr 4:90,496,867...90,607,019
Ensembl chr 4:90,497,754...90,605,481
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CCND1
cyclin D1
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:22391157
RGD:11352824
NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357
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CD40LG
CD40 ligand
ISO
RGD
PMID:9292526
RGD:11352271
NCBI chr X:111,655,301...111,667,602
Ensembl chr X:111,655,397...111,666,639
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CD46
CD46 molecule
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:16353080
RGD:11352810
NCBI chr25:21,650,825...21,693,898
Ensembl chr25:21,655,969...21,693,878
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CD79B
CD79b molecule
ISO
protein:decreased expression:bone marrow, mononuclear cell (human)
RGD
PMID:21487112
RGD:11250414
NCBI chr16:57,339,492...57,343,085
Ensembl chr16:57,339,457...57,343,358
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CD86
CD86 molecule
severity
ISO
protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human)
RGD
PMID:24283754
RGD:11354967
NCBI chr22:58,741,534...58,805,417
Ensembl chr22:58,741,525...58,805,366
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CDK6
cyclin dependent kinase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24736461
NCBI chr21:56,167,731...56,403,976
Ensembl chr21:56,170,450...56,393,808
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CEBPE
CCAAT enhancer binding protein epsilon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19684604
NCBI chr29:23,485,966...23,488,615
Ensembl chr29:23,486,148...23,487,755
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CFB
complement factor B
ISO
DNA:missense mutation:p.R32Q b(human)
RGD
PMID:6958349
RGD:11041155
Ensembl chr17:40,069,909...40,094,207
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CREBBP
CREB binding protein
disease_progression
ISO
DNA:mutations:multiple
RGD
PMID:25917266
RGD:11060149
NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943
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CSF3
colony stimulating factor 3
treatment
ISO
RGD
PMID:9250830
RGD:11039038
NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172
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CSPG4
chondroitin sulfate proteoglycan 4
severity
ISO
RGD
PMID:8562939
RGD:734840
NCBI chr26:7,735,972...7,761,355
Ensembl chr26:7,694,014...7,761,342
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
susceptibility no_association
ISO
DNA:polymorphism:cds:2452C>A(p.T461N)(human) DNA:polymorphism:3'UTR:3801T>C(human) DNA:polymorphism:3"UTR:rs4646903(human)
RGD
PMID:16676594 PMID:22964275 PMID:23725389
RGD:11352714 RGD:11352725 RGD:11352728
NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384
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CYP1A2
cytochrome P450 family 1 subfamily A member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chr26:8,727,996...8,733,254
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CYP1B1
cytochrome P450 family 1 subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chr14:69,318,713...69,327,277
Ensembl chr14:69,319,495...69,324,157
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CYP2C8
cytochrome P450 family 2 subfamily C member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chr 9:88,154,131...88,183,915
Ensembl chr 9:88,154,134...88,183,458
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CYP2D6
cytochrome P450 family 2 subfamily D member 6
susceptibility
ISO
DNA:SNP,deletion:splice junction,exon:1934G>A(human) DNA:polymorphisms: :
RGD
PMID:11037802 PMID:19593802
RGD:11252111 RGD:11352820
NCBI chr19:24,667,207...24,672,580
Ensembl chr19:24,667,282...24,671,513
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CYP2E1
cytochrome P450 family 2 subfamily E member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11774269
NCBI chr26:53,390,054...53,403,309
Ensembl chr26:53,390,089...53,404,211
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CYP3A5
cytochrome P450 family 3 subfamily A member 5
susceptibility disease_progression
ISO
DNA:polymorphism: :
RGD
PMID:19650988 PMID:22215203
RGD:11353796 RGD:11353805
NCBI chr28:13,473,649...13,517,905
Ensembl chr28:13,491,483...13,519,507
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DHFR
dihydrofolate reductase
disease_progression
ISO
DNA:polymorphisms, haplotype:promoter: DNA:polymorphisms: :-317A>G, 829C>T (human)
RGD
PMID:9226157 PMID:12972803 PMID:19861437 PMID:22969948
RGD:11039542 RGD:11039543 RGD:11039544 RGD:11039545
NCBI chr 4:74,787,292...74,811,196
Ensembl chr 4:74,787,629...74,810,960
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DNMT3A
DNA methyltransferase 3 alpha
treatment
ISO
DNA:mutations:exon, intron:p.R882(human)
RGD
PMID:25242092
RGD:11041125
NCBI chr14:82,313,414...82,427,170
Ensembl chr14:82,402,826...82,420,819
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DNTT
DNA nucleotidylexotransferase
ISO
protein:increased activity:peripheral blood,bone marrow:
RGD
PMID:7020399
RGD:8694149
NCBI chr 9:89,459,347...89,494,985
Ensembl chr 9:89,458,820...89,497,013
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DPYD
dihydropyrimidine dehydrogenase
no_association disease_progression
ISO
DNA:SNPs: :2194G>A, 1156G>T (human) DNA:splice-site mutation:intron:IVS14+1G>A (human) DNA:SNP: :85T>C (human)
RGD
PMID:26846104
RGD:11098453
NCBI chr20:35,376,738...36,215,388
Ensembl chr20:35,377,266...36,215,679
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DUX4
double homeobox 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27776115
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EHMT1
euchromatic histone lysine methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32889036
NCBI chr12:380,041...545,333
Ensembl chr12:379,943...497,033
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EHMT2
euchromatic histone lysine methyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32889036
NCBI chr17:40,123,935...40,141,942
Ensembl chr17:40,124,640...40,141,616
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ENG
endoglin
disease_progression
ISO
RGD
PMID:17572488
RGD:11041565
NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040
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EPHX1
epoxide hydrolase 1
susceptibility no_association
ISO
DNA:SNPs:exon:rs1051740, rs2234922 (human) DNA:missense mutation, haplotype:exon:p.Y113H (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation, haplotype:exon:p.H139R (human) DNA:polymorphisms:exon
RGD CTD
PMID:19593802 PMID:21983886 PMID:22200898 PMID:22930568
RGD:11252110 RGD:11252111 RGD:11252113 RGD:11252114
NCBI chr25:3,924,396...3,960,264
Ensembl chr25:3,924,606...3,945,535
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ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit
susceptibility
ISO
DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human) DNA:SNPs: :8092C>A, 19007G>A (human)
RGD
PMID:16435384 PMID:16723154
RGD:11252160 RGD:11340204
NCBI chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
no_association
ISO
DNA:haplotype DNA:missense mutations: :p.D312N, p.K751Q (human)
RGD
PMID:19101034 PMID:21987080
RGD:11252192 RGD:11340201
NCBI chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073
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ERG
ETS transcription factor ERG
ISO
ClinVar Annotator: match by term: Acute lymphoid leukemia
ClinVar
PMID:27993330
NCBI chr 2:82,327,088...82,611,341
Ensembl chr 2:82,326,767...82,447,228
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ETV6
ETS variant transcription factor 6
ISO
ClinVar Annotator: match by term: Acute lymphoid leukemia
ClinVar
PMID:26102509
NCBI chr11:11,567,522...11,812,292
Ensembl chr11:11,567,632...11,811,716
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EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545
MouseDO
NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573
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F3
coagulation factor III, tissue factor
ISO
RGD
PMID:8429686
RGD:11340211
NCBI chr20:38,726,690...38,738,457
Ensembl chr20:38,726,798...38,739,408
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FGA
fibrinogen alpha chain
ISO
protein:increased expression:serum (human)
RGD
PMID:25317080
RGD:11040558
NCBI chr 7:101,127,554...101,134,881
Ensembl chr 7:101,125,791...101,134,405
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FLT3
fms related receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Acute lymphoid leukemia
ClinVar OMIM
PMID:11290608 PMID:11442493 PMID:14604974 PMID:14670924 PMID:15256420 PMID:16857985 PMID:17606455 PMID:17889720 PMID:19657110 PMID:20733134 PMID:22368270 PMID:22504183 PMID:22504184 PMID:23261068 PMID:23321257 PMID:23430109 PMID:23714533 PMID:23783394 PMID:24046014 PMID:25157968 More...
NCBI chr 3:7,117,579...7,222,600
Ensembl chr 3:7,116,947...7,222,849
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FPGS
folylpolyglutamate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25013492
NCBI chr12:10,316,664...10,329,497
Ensembl chr12:10,317,137...10,335,271
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GATA3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35115686
NCBI chr 9:8,101,404...8,122,762
Ensembl chr 9:8,101,432...8,123,064
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GFI1B
growth factor independent 1B transcriptional repressor
ISO
mRNA:increased expression:blood:
RGD
PMID:19360458
RGD:11040460
NCBI chr12:5,145,194...5,158,659
Ensembl chr12:5,145,844...5,150,274
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GNB1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia
OMIM ClinVar
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32901917 PMID:32963807 More...
NCBI chr20:129,654,890...129,765,765
Ensembl chr20:129,707,085...129,766,667
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GPI
glucose-6-phosphate isomerase
ISO
RGD
PMID:6589021
RGD:11051848
NCBI chr 6:29,404,067...29,451,290
Ensembl chr 6:29,403,500...29,453,162
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GPX1
glutathione peroxidase 1
treatment
ISO
RGD
PMID:17317918 PMID:24698347
RGD:11352774 RGD:11352812
NCBI chr22:10,754,976...10,756,617
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GSR
glutathione-disulfide reductase
ISO
RGD
PMID:24191316
RGD:11059506
NCBI chr 8:28,778,713...28,851,907
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GSTP1
glutathione S-transferase pi 1
disease_progression susceptibility no_association
ISO
DNA:haplotype:cds: DNA:transition mutation:exon: DNA:polymorphism: :1578 a>G(human)
RGD
PMID:10666194 PMID:15738600 PMID:23979883
RGD:10450829 RGD:10755321 RGD:10755417
NCBI chr 1:6,676,897...6,679,936
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H1-2
H1.2 linker histone, cluster member
susceptibility
ISO
DNA:SNP, haplotype:enhancer: (rs807212) (human)
RGD
PMID:19806355
RGD:10755490
NCBI chr17:46,199,245...46,200,970
Ensembl chr17:46,199,304...46,199,942
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HCK
HCK proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17344919
NCBI chr 2:36,441,185...36,490,205
Ensembl chr 2:36,460,495...36,490,190
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HDAC1
histone deacetylase 1
disease_progression
ISO
mRNA:increased expression:bone marrow,blood:
RGD
PMID:23948281
RGD:9681454
NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556
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HDAC2
histone deacetylase 2
disease_progression
ISO
mRNA:increased expression:bone marrow,blood:
RGD
PMID:23948281
RGD:9681454
NCBI chr13:59,873,248...59,904,542
Ensembl chr13:59,873,767...59,905,742
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HDAC4
histone deacetylase 4
treatment
ISO
RGD
PMID:23948281
RGD:9681454
NCBI chr10:125,098,375...125,450,524
Ensembl chr10:125,098,366...125,403,227
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HFE
homeostatic iron regulator
no_association
ISO
DNA:missense mutation:cds:p.H63D (human) DNA:missense mutation: :p.H63D (human) DNA:missense mutation:cds:p.C282Y (human)
RGD
PMID:10627122 PMID:17107905
RGD:10755557 RGD:10755558
NCBI chr17:46,159,770...46,168,831
Ensembl chr17:46,156,685...46,164,649
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HK1
hexokinase 1
ISO
protein:decreased activity:platelet
RGD
PMID:21921332
RGD:11353881
NCBI chr 9:61,917,501...62,029,737
Ensembl chr 9:61,917,440...62,001,843
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HLF
HLF transcription factor, PAR bZIP family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26214592
NCBI chr16:38,048,114...38,108,798
Ensembl chr16:38,048,097...38,108,725
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HOXD4
homeobox D4
ISO
ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to
ClinVar
PMID:15776434
NCBI chr10:61,719,985...61,731,371
Ensembl chr10:61,727,026...61,728,332
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975
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IFNG
interferon gamma
susceptibility
ISO
DNA:SNP: :rs2069727(human)
RGD
PMID:21067287
RGD:10755691
NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473
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IKZF1
IKAROS family zinc finger 1
ISO
ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphocytic, susceptibility to, 2
ClinVar
PMID:25741868 PMID:27993330 PMID:28492532
NCBI chr21:8,398,902...8,500,431
Ensembl chr21:8,402,719...8,484,723
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IKZF2
IKAROS family zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chr10:98,750,782...98,909,061
Ensembl chr10:98,759,037...98,909,007
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IKZF3
IKAROS family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chr16:66,302,107...66,399,152
Ensembl chr16:66,303,117...66,397,765
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IL10
interleukin 10
treatment
ISO
protein:decreased expression:blood
RGD
PMID:15860861 PMID:21653647
RGD:11049158 RGD:11049169
NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
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IRF4
interferon regulatory factor 4
ISO
DNA:SNP:intron:rs12203592 (human)
RGD
PMID:19897031
RGD:11526162
NCBI chr17:71,739,920...71,758,811
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ITPA
inosine triphosphatase
treatment no_association
ISO
DNA:SNPs:exon:94C>A, 138G>A (human) DNA:SNP:intron
RGD
PMID:22009189
RGD:10766474
NCBI chr 2:33,873,231...33,893,329
Ensembl chr 2:33,873,339...33,893,556
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KDM2B
lysine demethylase 2B
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:21310926
RGD:9588255
NCBI chr11:116,805,541...116,957,236
Ensembl chr11:116,796,370...116,956,334
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KDM3B
lysine demethylase 3B
ISO
protein:increased expression:bone marrow, mononuclear cell (human)
RGD
PMID:22615488
RGD:9586728
NCBI chr23:41,027,490...41,111,560
Ensembl chr23:41,062,020...41,112,469
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KDM6A
lysine demethylase 6A
severity
ISO
DNA:mutations:cds:multiple (human)
RGD
PMID:22377896
RGD:9684944
NCBI chr X:42,053,272...42,291,013
Ensembl chr X:42,053,336...42,290,526
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KMT2A
lysine methyltransferase 2A
ISO
CTD Direct Evidence: marker/mechanism OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545
CTD MouseDO
PMID:24736461 PMID:25730765
NCBI chr 1:109,819,748...109,912,763
Ensembl chr 1:109,853,758...109,908,113
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KRAS
KRAS proto-oncogene, GTPase
disease_progression
ISO
RGD
PMID:17910045 PMID:25917266
RGD:11060148 RGD:11060149
NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191
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LMO2
LIM domain only 2
ISO
OMIM:247640 | OMIM:613065
MouseDO
NCBI chr 1:31,382,437...31,416,256
Ensembl chr 1:31,404,872...31,416,883
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LOC103224275
glutathione S-transferase Mu 1
no_association disease_progression susceptibility
ISO
RGD
PMID:10666194 PMID:12827651 PMID:14607752 PMID:15738600
RGD:10450829 RGD:10755321 RGD:10755409 RGD:10755410
NCBI chr20:23,854,969...23,861,634
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LOC103233451
cytochrome b-245 light chain
ISO
mRNA:increased expression:peripheral blood mononuclear cell:
RGD
PMID:19222940
RGD:11040545
NCBI chr 5:74,023,134...74,030,793
Ensembl chr 5:74,023,082...74,030,750
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LOC103247474
cytokine receptor like factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838194
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MEFV
MEFV innate immunity regulator, pyrin
susceptibility
ISO
DNA:polymorphisms:cds:p.E148Q,M680I(human)
RGD
PMID:22942567
RGD:11531121
NCBI chr 5:2,971,323...2,991,501
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MHC-DQA1
major histocompatibility complex, class II, DQ alpha 1
ISO
DNA:polymorphisms, haplotype:cds:HLA-DQA1*01 (human)
RGD
PMID:9744491
RGD:11041762
NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871
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MTHFR
methylenetetrahydrofolate reductase
disease_progression treatment
ISO
DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:677C>T (human)
RGD CTD
PMID:16706930 PMID:19923983 PMID:21644011
RGD:10449398 RGD:10449407
NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950
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MTR
5-methyltetrahydrofolate-homocysteine methyltransferase
disease_progression no_association susceptibility
ISO
DNA:SNP::rs10925235(human) DNA:polymorphism: :2756A>G(human) DNA:polymorphism: :66A>G(human)
RGD
PMID:15159311 PMID:21618417 PMID:22453148 PMID:26605150
RGD:11531136 RGD:11531137 RGD:11531140 RGD:11531141
NCBI chr25:73,935,666...74,039,872
Ensembl chr25:73,935,225...74,038,741
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MTRR
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:haplotype:cds: CTD Direct Evidence: marker/mechanism DNA:SNP: :rs3776455(human)
RGD CTD
PMID:17136115 PMID:23940529
RGD:11531133 RGD:11531135
NCBI chr 4:7,461,521...7,493,032
Ensembl chr 4:7,461,526...7,493,840
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MYC
MYC proto-oncogene, bHLH transcription factor
disease_progression
ISO
RGD
PMID:25784651
RGD:11532748
NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384
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NAT2
N-acetyltransferase 2
no_association susceptibility
ISO
DNA:polymorphisms,haplotype: : CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :
RGD CTD
PMID:21888617 PMID:22200898 PMID:22215203 PMID:25804798
RGD:11353805 RGD:11532767 RGD:11532769
NCBI chr 8:16,451,144...16,494,961
Ensembl chr 8:16,493,749...16,494,621
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NBN
nibrin
ISO
ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia
OMIM ClinVar
PMID:9590180 PMID:11325820 PMID:12353271 PMID:14559852 PMID:15338273 PMID:15474156 PMID:16415040 PMID:16474176 PMID:16770759 PMID:16810201 PMID:17001621 PMID:17496786 PMID:17695489 PMID:17894553 PMID:17899368 PMID:18023021 PMID:18049891 PMID:18280732 PMID:18606567 PMID:18612309 PMID:18638378 PMID:19393249 PMID:19452044 PMID:19523210 PMID:19584272 PMID:19804756 PMID:19813148 PMID:19908051 PMID:20805886 PMID:21212067 PMID:21302341 PMID:21698754 PMID:22131123 PMID:22373003 PMID:22491912 PMID:22841127 PMID:22864661 PMID:22995991 PMID:23317186 PMID:23555315 PMID:24033266 PMID:24093751 PMID:24113799 PMID:24396275 PMID:24549055 PMID:24728327 PMID:24830725 PMID:24894818 PMID:25117502 PMID:25186627 PMID:25318351 PMID:25503501 PMID:25619955 PMID:25712764 PMID:25741868 PMID:25980754 PMID:26083025 PMID:26315354 PMID:26467025 PMID:26534844 PMID:26564480 PMID:26681312 PMID:26722329 PMID:26787654 PMID:26898890 PMID:27153395 PMID:27616075 PMID:27621404 PMID:27978560 PMID:28076423 PMID:28135145 PMID:28152038 PMID:28261280 PMID:28374160 PMID:28376765 PMID:28492532 PMID:28528518 PMID:28591191 PMID:28726808 PMID:28888541 PMID:29335925 PMID:29371908 PMID:29522266 PMID:29596542 PMID:29615459 PMID:29659569 PMID:29678143 PMID:29785153 PMID:30256826 PMID:30287823 PMID:30306255 PMID:30441849 PMID:30590007 PMID:30651582 PMID:30982232 PMID:31159747 PMID:31206626 PMID:31415627 PMID:31666926 PMID:31780696 PMID:31874108 PMID:32068069 PMID:32427313 PMID:32566746 PMID:32668560 PMID:32832836 PMID:32936981 PMID:32980694 PMID:33309985 PMID:33471991 PMID:33800431 PMID:34072463 PMID:34284872 PMID:35245693 PMID:35264596 PMID:36346689 More...
NCBI chr 8:85,017,807...85,069,219
Ensembl chr 8:85,015,752...85,069,028
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NOS3
nitric oxide synthase 3
susceptibility disease_progression
ISO
DNA:SNP: :rs3918186(human) DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human)
RGD
PMID:20510681 PMID:23922896
RGD:11533639 RGD:11533646
NCBI chr21:119,174,829...119,196,840
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NOTCH3
notch receptor 3
ISO
OMIM:247640 | OMIM:613065
MouseDO
NCBI chr 6:13,762,570...13,803,676
Ensembl chr 6:13,761,512...13,793,359
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NQO1
NAD(P)H quinone dehydrogenase 1
ISO
DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human) DNA:mutation: :609C>T (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11774269 PMID:17332311 PMID:18444911
RGD:10769347 RGD:10769359
NCBI chr 5:57,676,547...57,695,434
Ensembl chr 5:57,675,981...57,716,599
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NRAS
NRAS proto-oncogene, GTPase
disease_progression
ISO
DNA:missense mutation:cds:
RGD
PMID:25204082
RGD:11535045
NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931
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NSD2
nuclear receptor binding SET domain protein 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24076604
NCBI chr27:46,787,325...46,896,898
Ensembl chr27:46,787,154...46,867,792
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NT5C2
5'-nucleotidase, cytosolic II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23377183
NCBI chr 9:96,133,873...96,325,122
Ensembl chr 9:96,135,400...96,219,956
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NUP214
nucleoporin 214
ISO
OMIM
NCBI chr12:6,905,047...7,014,907
Ensembl chr12:6,903,096...7,014,887
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P2RY8
P2Y receptor family member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838194
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PAG1
phosphoprotein membrane anchor with glycosphingolipid microdomains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chr 8:76,404,120...76,541,525
Ensembl chr 8:76,409,223...76,426,138
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PAX5
paired box 5
susceptibility
ISO
ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to, 3
OMIM ClinVar
PMID:24013638 PMID:24728327 PMID:25741868 PMID:27993330 PMID:28492532 PMID:30643249 PMID:35094443 More...
NCBI chr12:43,547,399...43,748,202
Ensembl chr12:43,548,914...43,740,962
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PON1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M (rs854560), p.Q192R (rs662) (human)
RGD
PMID:22976839
RGD:11552580
NCBI chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875
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PRDM14
PR/SET domain 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19043588
NCBI chr 8:65,800,454...65,820,190
Ensembl chr 8:65,800,923...65,819,456
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PTEN
phosphatase and tensin homolog
ISO
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545
MouseDO
NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146
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RB1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
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SLC19A1
solute carrier family 19 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17255265
NCBI chr 2:89,188,171...89,232,081
Ensembl chr 2:89,188,733...89,209,281
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SNRPE
small nuclear ribonucleoprotein polypeptide E
severity
ISO
mRNA:decreased expression:bone marrow, blood, mononuclear cell (human)
RGD
PMID:23915977
RGD:10768836
NCBI chr25:25,474,620...25,483,427
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TAL1
TAL bHLH transcription factor 1, erythroid differentiation factor
ISO
OMIM
NCBI chr20:85,681,247...85,697,887
Ensembl chr20:85,688,155...85,694,829
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TCF3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26214592
NCBI chr 6:1,393,147...1,440,515
Ensembl chr 6:1,393,107...1,440,479
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TCN2
transcobalamin 2
ISO
protein:altered activity:plasma:
RGD
PMID:8754152
RGD:11059889
NCBI chr19:13,489,849...13,511,360
Ensembl chr19:13,490,645...13,511,810
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TERT
telomerase reverse transcriptase
ISO
DNA:SNPs:promoter, introns:g.1296486C>T, g.12866516A>C, g.1279790G>A (rs2735940, rs2736100, rs10069690) (human)
RGD
PMID:15621763 PMID:23066086
RGD:11038654 RGD:11038667
NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468
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TM9SF2
transmembrane 9 superfamily member 2
ISO
mRNA:increased expression:bone marrow, mononuclear cells (human)
RGD
PMID:12730115
RGD:2317244
NCBI chr 3:78,143,850...78,217,461
Ensembl chr 3:78,144,078...78,216,828
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TP53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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TPMT
thiopurine S-methyltransferase
no_association treatment
ISO
DNA:SNPs: :multiple DNA:SNPs:multiple DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human) DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human)
RGD
PMID:17164697 PMID:22009189 PMID:24499706
RGD:10766474 RGD:11038720 RGD:11038723
NCBI chr17:53,987,561...54,012,647
Ensembl chr17:53,987,559...54,014,650
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TTC12
tetratricopeptide repeat domain 12
ISO
DNA:hypermethylation:5'end:CpG dinucleotide
RGD
PMID:17657212
RGD:405866376
NCBI chr 1:104,675,076...104,742,326
Ensembl chr 1:104,675,768...104,731,843
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TYMS
thymidylate synthetase
treatment
ISO
DNA:repeats: : rs347430033(human)
RGD
PMID:25007187
RGD:11080979
NCBI chr18:60,030,640...60,043,297
Ensembl chr18:60,030,658...60,041,856
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XRCC1
X-ray repair cross complementing 1
susceptibility no_association
ISO
DNA:missense mutation: :p.R194W (human) DNA:missense mutation, haplotype: :p.R399Q (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation: :p.R399Q (human)
RGD CTD
PMID:19101034 PMID:21983886
RGD:11252110 RGD:11252192
NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094
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ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:10988075 PMID:11423618 PMID:11853795 PMID:11861307 PMID:11964322 PMID:12130516 PMID:12399961 PMID:12623848 PMID:14559829 PMID:14745431 PMID:15194504 PMID:15256422 PMID:15381060 PMID:18615627 PMID:19466505 PMID:19652056 PMID:20367437 PMID:20512393 PMID:20537386 PMID:20697894 PMID:20963643 PMID:21505103 PMID:21562040 PMID:21762985 PMID:21872826 PMID:21895409 PMID:22306673 PMID:22772060 PMID:22870928 PMID:23355941 PMID:23540562 PMID:23676790 PMID:24236021 PMID:24456693 PMID:25157968 PMID:25686603 PMID:25741868 PMID:36063163 More...
NCBI chr12:7,258,932...7,435,658
Ensembl chr12:7,256,648...7,312,734
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CYP2B6
cytochrome P450 family 2 subfamily B member 6
susceptibility
ISO
DNA:polymorphism:G15631T
RGD
PMID:19144407
RGD:6480472
NCBI chr 6:35,392,699...35,418,171
Ensembl chr 6:35,393,342...35,418,106
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FGFR1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:25705862 PMID:26619011 PMID:26942290 PMID:33448156
NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508
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IL7R
interleukin 7 receptor
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:22897847 PMID:22955920
NCBI chr 4:34,701,724...34,724,241
Ensembl chr 4:34,701,531...34,721,361
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INSL6
insulin like 6
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920
NCBI chr12:74,345,243...74,372,778
Ensembl chr12:74,346,706...74,372,729
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JAK1
Janus kinase 1
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:20167706 PMID:21436584 PMID:21680795 PMID:22955920 PMID:25352124 PMID:28111307 More...
NCBI chr20:68,122,134...68,253,361
Ensembl chr20:68,122,173...68,252,042
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JAK2
Janus kinase 2
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920
NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710
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JAK3
Janus kinase 3
ISO
ClinVar Annotator: match by term: LYMPHOMATOUS ALL
ClinVar
PMID:10982185 PMID:16843266 PMID:18270328 PMID:20132407 PMID:20372971 PMID:21599579 PMID:21821710 PMID:24728327 PMID:25157968 PMID:25741868 PMID:28492532 More...
NCBI chr 6:16,301,760...16,323,343
Ensembl chr 6:16,300,525...16,322,859
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LOC103247474
cytokine receptor like factor 2
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:19907440 PMID:19965641 PMID:20018760 PMID:22368272
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BIRC5
baculoviral IAP repeat containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16497974
NCBI chr16:70,226,824...70,237,000
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BMP6
bone morphogenetic protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18688853
NCBI chr17:64,279,243...64,436,356
Ensembl chr17:64,280,609...64,435,382
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CARD11
caspase recruitment domain family member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
G
CCR4
C-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr15:77,435,195...77,439,164
Ensembl chr15:77,437,265...77,438,347
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CCR7
C-C motif chemokine receptor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr16:65,620,632...65,632,394
Ensembl chr16:65,620,665...65,632,984
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CD163
CD163 molecule
disease_progression
ISO
protein:increased expression:lymph node tumor (human)
RGD
PMID:23557330
RGD:42721976
NCBI chr11:7,501,562...7,536,332
Ensembl chr11:7,501,150...7,536,295
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CD274
CD274 molecule
disease_progression
ISO
RGD
PMID:27418641
RGD:41412177
NCBI chr12:74,038,844...74,060,662
Ensembl chr12:74,041,767...74,056,806
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CD28
CD28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr10:89,471,710...89,505,152
Ensembl chr10:89,471,730...89,500,387
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CD68
CD68 molecule
disease_progression
ISO
protein:increased expression:lymph node tumor (human)
RGD
PMID:23557330
RGD:42721976
NCBI chr16:6,956,633...6,959,645
Ensembl chr16:6,957,212...6,959,042
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CD80
CD80 molecule
ISO
RGD
PMID:10590132
RGD:6902938
NCBI chr22:61,258,281...61,294,772
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CD86
CD86 molecule
ISO
RGD
PMID:10590132
RGD:6902938
NCBI chr22:58,741,534...58,805,417
Ensembl chr22:58,741,525...58,805,366
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CSNK1A1
casein kinase 1 alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr23:52,111,500...52,169,043
Ensembl chr23:52,114,053...52,168,998
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CSNK2A1
casein kinase 2 alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 2:55,982,259...56,047,023
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CSNK2B
casein kinase 2 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr17:40,354,520...40,359,136
Ensembl chr17:40,352,367...40,358,401
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CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344
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FOXP3
forkhead box P3
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23797717 PMID:23962110
RGD:38456007
NCBI chr X:46,349,890...46,365,133
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FYN
FYN proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr13:61,988,265...62,218,756
Ensembl chr13:62,159,874...62,219,672
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GATA3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 9:8,101,404...8,122,762
Ensembl chr 9:8,101,432...8,123,064
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GPR183
G protein-coupled receptor 183
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 3:77,952,689...77,966,317
Ensembl chr 3:77,953,212...77,954,297
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HNRNPA2B1
heterogeneous nuclear ribonucleoprotein A2/B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr21:32,167,126...32,178,031
Ensembl chr21:32,167,337...32,176,980
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ICOS
inducible T cell costimulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr10:89,706,755...89,732,600
Ensembl chr10:89,726,489...89,732,944
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IFNA2
interferon alpha 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12560223 PMID:17077332
NCBI chr12:58,468,018...58,469,825
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IFNG
interferon gamma
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:8800741 PMID:23962110
RGD:10755707
NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473
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IKZF2
IKAROS family zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr10:98,750,782...98,909,061
Ensembl chr10:98,759,037...98,909,007
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IL10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:8704212 PMID:23962110
RGD:11049460
NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
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IL2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23962110
NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969
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IL4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23962110
NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258
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IL5
interleukin 5
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:16425276
RGD:11354942
NCBI chr23:35,360,143...35,375,169
Ensembl chr23:35,360,506...35,362,178
G
IL6
interleukin 6
ISO
protein:increased expression:serum (human)
RGD
PMID:10374863
RGD:11060275
NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
G
IRF4
interferon regulatory factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr17:71,739,920...71,758,811
G
JAK3
Janus kinase 3
ISO
DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human)
RGD
PMID:21821710
RGD:11531131
NCBI chr 6:16,301,760...16,323,343
Ensembl chr 6:16,300,525...16,322,859
G
MYB
MYB proto-oncogene, transcription factor
disease_progression
ISO
mRNA:splice variants:CD4+ T cell:
RGD
PMID:27307595
RGD:11532670
NCBI chr13:38,203,923...38,242,148
Ensembl chr13:38,203,731...38,241,864
G
NOTCH1
notch receptor 1
ISO
DNA:mutations:multiple (human)
RGD
PMID:16707600
RGD:1580759
NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585
G
NRAS
NRAS proto-oncogene, GTPase
disease_progression
ISO
RGD
PMID:21586752
RGD:11535055
NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931
G
PLCG1
phospholipase C gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 2:22,599,547...22,638,394
G
PRKCB
protein kinase C beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 5:21,558,608...21,940,536
Ensembl chr 5:21,558,441...21,943,864
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STAT3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24090995
NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984
G
TERF2
telomeric repeat binding factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17643074
NCBI chr 5:58,019,422...58,051,819
Ensembl chr 5:58,019,468...58,050,802
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TLX1
T cell leukemia homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:1683261 PMID:1717256
RGD:1599439
NCBI chr 9:94,147,410...94,155,388
Ensembl chr 9:94,149,126...94,154,520
G
TNFSF8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr12:24,646,797...24,684,341
Ensembl chr12:24,647,412...24,678,466
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TP73
tumor protein p73
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691
G
VAV1
vav guanine nucleotide exchange factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 6:6,337,255...6,415,851
G
ERCC4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia
ClinVar
PMID:23623386 PMID:25741868
NCBI chr 5:13,378,282...13,410,307
Ensembl chr 5:13,378,401...13,406,541
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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 chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307
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 1:32,750,300...32,801,832
G
ABCG2
ATP binding cassette subfamily G member 2 (JR blood group)
susceptibility
ISO
DNA:SNPs,haplotype: :rs1481012,rs2231142(human)
RGD
PMID:21918980
RGD:11080977
NCBI chr 7:36,458,110...36,599,753
G
ACOXL
acyl-CoA oxidase like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr14:13,768,917...14,176,639
G
AICDA
activation induced cytidine deaminase
disease_progression
ISO
RGD
PMID:21133730
RGD:11039455
NCBI chr11:8,426,920...8,438,331
Ensembl chr11:8,428,922...8,431,641
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APOE
apolipoprotein E
disease_progression
ISO
RGD
PMID:18784741
RGD:11040549
NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438
G
ATM
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17968022
NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520
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BCL11A
BCL11 transcription factor A
ISO
DNA:translocation:5' utr: (human)
RGD
PMID:11719382
RGD:11100004
NCBI chr14:46,453,102...46,553,802
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BCL2
BCL2 apoptosis regulator
severity no_association treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:snp:promoter:g.-938C>A (human) protein:increased expression:B cell (human)
CTD RGD
PMID:16960146 PMID:17296974 PMID:17959858 PMID:20001236 PMID:21750559 PMID:23770605 More...
RGD:11522735 RGD:11526104 RGD:11526105 RGD:11526110
NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
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BMF
Bcl2 modifying factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr26:42,893,997...42,915,062
Ensembl chr26:42,894,460...42,915,062
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:12068308 PMID:12198537 PMID:12692057 PMID:12960123 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15035987 PMID:16187918 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17704260 PMID:18039235 PMID:18060073 PMID:18368129 PMID:18413255 PMID:18794803 PMID:19206169 PMID:19376813 PMID:19383316 PMID:19537845 PMID:19913317 PMID:20350999 PMID:20619739 PMID:21062266 PMID:21129611 PMID:21639808 PMID:22048237 PMID:22310681 PMID:22495831 PMID:22663011 PMID:22972589 PMID:23352452 PMID:23680146 PMID:24033266 PMID:24451042 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:28832562 PMID:29453417 PMID:29595366 More...
NCBI chr21:109,495,525...109,690,261
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BTK
Bruton tyrosine kinase
treatment
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
RGD ClinVar
PMID:23045577 PMID:24869598 PMID:25741868 PMID:28492532
RGD:11040699
NCBI chr X:89,690,569...89,727,420
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CBL
Cbl proto-oncogene
severity
ISO
DNA:hypophosphorylation:CD5+ B cell: mRNA,protein:increased expression:CD5+ B cell:
RGD
PMID:17804547
RGD:11038803
NCBI chr 1:110,581,049...110,679,284
Ensembl chr 1:110,581,143...110,674,481
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CCDC50
coiled-coil domain containing 50
ISO
RGD
PMID:19641524
RGD:9685139
NCBI chr15:85,493,894...85,563,412
Ensembl chr15:85,494,157...85,556,827
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CD40
CD40 molecule
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566
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CD40LG
CD40 ligand
ISO
mouse-human chimeric gene in human
RGD
PMID:20882050
RGD:11352235
NCBI chr X:111,655,301...111,667,602
Ensembl chr X:111,655,397...111,666,639
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CD5
CD5 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr 1:12,720,004...12,747,637
Ensembl chr 1:12,719,333...12,746,960
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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 chr16:57,339,492...57,343,085
Ensembl chr16:57,339,457...57,343,358
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CD86
CD86 molecule
severity
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:25179679
RGD:11354969
NCBI chr22:58,741,534...58,805,417
Ensembl chr22:58,741,525...58,805,366
G
CPEB1
cytoplasmic polyadenylation element binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062064
NCBI chr29:3,005,891...3,106,732
Ensembl chr29:3,006,532...3,106,793
G
CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
protein:increased expression:T cell
RGD
PMID:15914560 PMID:16094420
RGD:11344923 RGD:11352246
NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344
G
CUNH11orf21
chromosome unknown C11orf21 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 1:2,106,099...2,110,188
G
DKC1
dyskerin pseudouridine synthase 1
ISO
RGD
PMID:18077792
RGD:11251735
NCBI chr X:129,015,883...129,029,741
Ensembl chr X:129,016,046...129,030,001
G
DNMT3B
DNA methyltransferase 3 beta
ISO
mRNA:decreased expression: B cell
RGD
PMID:15467427
RGD:9589146
NCBI chr 2:37,128,635...37,176,033
Ensembl chr 2:37,146,538...37,174,570
G
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
severity
ISO
DNA:SNP: :p.K751Q (rs13181) (human)
RGD
PMID:19484764 PMID:22739018
RGD:11252203 RGD:11252204
NCBI chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073
G
FARP2
FERM, ARH/RhoGEF and pleckstrin domain protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062064
NCBI chr10:127,422,843...127,570,848
Ensembl chr10:127,422,870...127,573,801
G
FBXW7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:25741868 PMID:26619011
NCBI chr 7:98,894,261...99,105,955
Ensembl chr 7:98,892,504...99,106,084
G
FCGR3A
Fc fragment of IgG receptor IIIa
no_association
ISO
DNA:SNP:exon:p.F158V (rs396991) (human)
RGD
PMID:14563637
RGD:11352260
NCBI chr20:2,466,492...2,475,579
G
HRAS
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637
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ICAM1
intercellular adhesion molecule 1
severity
ISO
RGD
PMID:7658704
RGD:11354983
NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263
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IFNG
interferon gamma
susceptibility
ISO
DNA:polymorphism: :847A>T(human)
RGD
PMID:19757192
RGD:10755703
NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473
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IL10
interleukin 10
no_association disease_progression
ISO
DNA:SNPs: :multiple DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human) protein:increased expression:serum
RGD
PMID:10638947 PMID:19573080 PMID:22945689
RGD:11041895 RGD:11049165 RGD:11049174
NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
G
IL19
interleukin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr25:22,514,199...22,523,680
Ensembl chr25:22,514,559...22,520,499
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IL1A
interleukin 1 alpha
ISO
RGD
PMID:19074885
RGD:11051968
NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611
G
IL1B
interleukin 1 beta
severity
ISO
DNA:SNP:promoter:-511C>T (human) protein:decreased expression:plasma:
RGD
PMID:10870116 PMID:18271063
RGD:11051967 RGD:11522755
NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
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IL1RN
interleukin 1 receptor antagonist
ISO
protein:decreased expression:plasma:
RGD
PMID:10870116
RGD:11522755
NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326
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IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:plasma:
CTD RGD
PMID:10870116 PMID:18006695
RGD:11522755
NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
G
IRF4
interferon regulatory factor 4
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12079517 PMID:12393648 PMID:18758461
RGD:11526160 RGD:11530024
NCBI chr17:71,739,920...71,758,811
G
ITGA4
integrin subunit alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21093051
NCBI chr10:66,984,687...67,063,158
Ensembl chr10:66,984,887...67,061,636
G
KRAS
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:18316791 PMID:18794081 PMID:19075190 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:22407852 PMID:22722830 PMID:23325582 PMID:25157968 PMID:26619011 More...
NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191
G
LEF1
lymphoid enhancer binding factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 7:55,974,770...56,096,214
Ensembl chr 7:55,990,621...56,094,110
G
LILRA4
leukocyte immunoglobulin like receptor A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr 6:47,023,469...47,038,665
Ensembl chr 6:47,023,620...47,037,336
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LOC103218035
nuclear body protein SP140
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18758461
NCBI chr10:116,260,787...116,359,406
Ensembl chr10:116,262,327...116,349,173
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LOC103242307
TNF superfamily member 13
ISO
protein:increased expression:serum
RGD
PMID:15488762
RGD:1549466
NCBI chr16:6,935,073...6,938,792
Ensembl chr16:6,926,584...6,938,019
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LOC103243509
neuroendocrine secretory protein 55
disease_progression
ISO
DNA:polymorphism:393T>C (human)
RGD
PMID:17020971
RGD:1601379
NCBI chr 2:5,233,893...5,303,433
Ensembl chr 2:5,233,874...5,249,192
G
LRRC56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
NCBI chr 1:352,131...370,276
Ensembl chr 1:355,982...369,633
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MS4A1
membrane spanning 4-domains A1
ISO
RGD
PMID:19911856
RGD:2316994
NCBI chr 1:13,343,647...13,358,639
Ensembl chr 1:13,345,253...13,358,547
G
MTHFR
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16706930
NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950
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MYD88
MYD88 innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chr15:1,276,804...1,281,811
Ensembl chr15:1,276,798...1,281,166
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NRAS
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931
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P2RX7
purinergic receptor P2X 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11003599
NCBI chr11:116,505,975...116,560,151
Ensembl chr11:116,529,346...116,563,059
G
PECAM1
platelet and endothelial cell adhesion molecule 1
severity
ISO
protein:increased expression:B cell (human)
RGD
PMID:12673718
RGD:11541127
NCBI chr16:56,863,763...56,947,479
Ensembl chr16:56,880,934...56,950,999
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PLCG2
phospholipase C gamma 2
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar
PMID:24869598 PMID:28492532
NCBI chr 5:67,209,268...67,394,865
Ensembl chr 5:67,215,459...67,398,990
G
PMAIP1
phorbol-12-myristate-13-acetate-induced protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr18:19,861,182...19,865,628
Ensembl chr18:19,862,743...19,865,250
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POLB
DNA polymerase beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr 8:40,332,165...40,368,065
Ensembl chr 8:40,332,208...40,372,582
G
PPP2R5C
protein phosphatase 2 regulatory subunit B'gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16038780
NCBI chr24:79,703,316...79,875,379
Ensembl chr24:79,703,312...79,875,389
G
PRKD2
protein kinase D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18758461
NCBI chr 6:40,028,214...40,071,523
Ensembl chr 6:40,027,552...40,071,455
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16314473
NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
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PTPN11
protein tyrosine phosphatase non-receptor type 11
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:12161469 PMID:12717436 PMID:14644997 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15928039 PMID:16358218 PMID:17177198 PMID:17972951 PMID:18759865 PMID:19047918 PMID:19179468 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26918529 PMID:27069254 PMID:28074573 PMID:28098151 PMID:28492532 PMID:30868567 PMID:30896080 More...
NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637
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QPCT
glutaminyl-peptide cyclotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr14:70,015,260...70,044,033
Ensembl chr14:70,015,261...70,043,941
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RBL2
RB transcriptional corepressor like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16038780
NCBI chr 5:39,225,797...39,283,550
Ensembl chr 5:39,225,844...39,282,190
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SF3B1
splicing factor 3b subunit 1
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:23634996 PMID:25741868 PMID:26619011
NCBI chr10:82,901,908...82,952,094
Ensembl chr10:82,899,079...82,952,071
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SF3B2
splicing factor 3b subunit 2
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:26619011
NCBI chr 1:8,189,636...8,207,024
Ensembl chr 1:8,189,446...8,207,020
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TERT
telomerase reverse transcriptase
disease_progression
ISO
RGD
PMID:17344921
RGD:11038662
NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468
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TFRC
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16904380
NCBI chr15:91,102,153...91,134,994
Ensembl chr15:91,102,817...91,135,584
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THBD
thrombomodulin
ISO
RGD
PMID:21812019
RGD:5685033
NCBI chr 2:52,041,950...52,045,946
Ensembl chr 2:52,043,746...52,045,626
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TNF
tumor necrosis factor
disease_progression
ISO
protein:increased expression:bone marrow, blood, lymphocyte
RGD
PMID:12010662 PMID:22945689
RGD:10449463 RGD:11041895
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TNFRSF10A
TNF receptor superfamily member 10a
susceptibility
ISO
DNA:missense mutation:cds:p.E228A (c.683A>C) (human) DNA:SNP: :1322A>G (human)
RGD
PMID:15531454 PMID:16217763
RGD:11038717 RGD:11038718
NCBI chr 8:21,318,987...21,351,641
Ensembl chr 8:21,315,149...21,351,673
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TNFRSF11A
TNF receptor superfamily member 11a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16270354
NCBI chr18:17,385,251...17,446,442
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TNFSF11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16270354
NCBI chr 3:20,717,884...20,761,520
Ensembl chr 3:20,727,592...20,760,408
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TNFSF8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr12:24,646,797...24,684,341
Ensembl chr12:24,647,412...24,678,466
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TOPBP1
DNA topoisomerase II binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr15:56,679,333...56,740,773
Ensembl chr15:56,679,426...56,741,566
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TP53
tumor protein p53
disease_progression
ISO
DNA:deletion: : ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
RGD ClinVar
PMID:253702 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1679237 PMID:1683921 PMID:1978757 PMID:2046748 PMID:2531845 PMID:2554494 PMID:7478555 PMID:7651740 PMID:7732013 PMID:7737263 PMID:7791795 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8276238 PMID:8308926 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8649776 PMID:8718514 PMID:8825920 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9704930 PMID:9825943 PMID:9839505 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10589545 PMID:10713666 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10867151 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12672316 PMID:12700230 PMID:12726864 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15221755 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17170001 PMID:17308077 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17881637 PMID:18307025 PMID:18511570 PMID:18685109 PMID:18937320 PMID:19101993 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20878954 PMID:21056685 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21118481 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22198284 PMID:22265402 PMID:22484423 PMID:22713868 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:23028800 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23263379 PMID:23484829 PMID:23538418 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24744791 PMID:24810334 PMID:25157968 PMID:25256166 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25404506 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25765855 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27050224 PMID:27179933 PMID:27276561 PMID:27276934 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27493922 PMID:27501770 PMID:27523101 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28160093 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28772286 PMID:28861920 PMID:28873162 PMID:29025599 PMID:29070607 PMID:29300620 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29958926 PMID:29979965 PMID:30076369 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30709875 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31168460 PMID:31296311 PMID:31300551 PMID:31494577 PMID:31533767 PMID:31748977 PMID:31775759 PMID:31881331 PMID:31882575 PMID:32000721 PMID:32126783 PMID:32164171 PMID:32179180 PMID:32187361 PMID:32295079 PMID:32371905 PMID:32817165 PMID:32906206 PMID:32959997 PMID:33245408 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33633026 PMID:33674644 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34793666 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35820297 PMID:36168441 PMID:36988593 More...
RGD:11075074
NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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VDR
vitamin D receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12446453
NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684
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XPO1
exportin 1
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:26619011
NCBI chr14:45,428,279...45,487,965
Ensembl chr14:45,432,619...45,488,723
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XRCC1
X-ray repair cross complementing 1
no_association severity
ISO
DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human) DNA:SNP: :p.R399Q (rs25487) (human)
RGD
PMID:19484764
RGD:11252204
NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094
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ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase
treatment
ISO
RGD
PMID:21481795
RGD:11038814
NCBI chr12:7,258,932...7,435,658
Ensembl chr12:7,256,648...7,312,734
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AHR
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr21:40,778,198...40,826,491
Ensembl chr21:40,778,218...40,826,478
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ATF7IP
activating transcription factor 7 interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413735
NCBI chr11:14,264,795...14,397,062
Ensembl chr11:14,264,706...14,392,206
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BCL2L1
BCL2 like 1
severity
ISO
RGD
PMID:18216295
RGD:11531108
NCBI chr 2:36,059,024...36,118,332
Ensembl chr 2:36,058,919...36,116,470
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BCR
BCR activator of RhoGEF and GTPase
ISO
BCR/ABL fusion
RGD
PMID:9310467
RGD:41404633
NCBI chr19:2,569,841...2,703,703
Ensembl chr19:2,566,190...2,702,920
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BRD2
bromodomain containing 2
ISO
RGD
PMID:14563639
RGD:9586345
NCBI chr17:39,113,519...39,126,267
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CCN2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24154679
NCBI chr13:41,613,838...41,617,010
Ensembl chr13:41,613,798...41,617,651
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CCND1
cyclin D1
ISO
mRNA:increased expression:B cell (mouse)
RGD
PMID:23169640
RGD:11353783
NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357
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CYP3A5
cytochrome P450 family 3 subfamily A member 5
treatment
ISO
DNA:polymorphisms: :
RGD
PMID:21225912
RGD:11353807
NCBI chr28:13,473,649...13,517,905
Ensembl chr28:13,491,483...13,519,507
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DUX4
double homeobox 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27019113
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ETV6
ETS variant transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15217836 PMID:24413735 PMID:25807284
NCBI chr11:11,567,522...11,812,292
Ensembl chr11:11,567,632...11,811,716
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F13A1
coagulation factor XIII A chain
ISO
protein:increased expression:B lymphoblast:
RGD
PMID:16894461
RGD:11041855
NCBI chr17:65,885,498...66,040,026
Ensembl chr17:65,885,658...66,040,040
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F3
coagulation factor III, tissue factor
treatment
ISO
RGD
PMID:19874310
RGD:11341694
NCBI chr20:38,726,690...38,738,457
Ensembl chr20:38,726,798...38,739,408
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FH
fumarate hydratase
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:28492532
NCBI chr25:78,576,931...78,599,998
Ensembl chr25:78,575,300...78,599,972
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FLT3
fms related receptor tyrosine kinase 3
ISO
mRNA,protein:increased expression:bone marrow:
RGD
PMID:8562934
RGD:11049466
NCBI chr 3:7,117,579...7,222,600
Ensembl chr 3:7,116,947...7,222,849
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GATA3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24141364
NCBI chr 9:8,101,404...8,122,762
Ensembl chr 9:8,101,432...8,123,064
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IDO1
indoleamine 2,3-dioxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr 8:37,930,910...37,950,790
Ensembl chr 8:37,930,562...37,946,505
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IKZF1
IKAROS family zinc finger 1
disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations: :
CTD RGD
PMID:22699455 PMID:24141364
RGD:11075072
NCBI chr21:8,398,902...8,500,431
Ensembl chr21:8,402,719...8,484,723
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IL5
interleukin 5
ISO
RGD
PMID:15368290
RGD:7241068
NCBI chr23:35,360,143...35,375,169
Ensembl chr23:35,360,506...35,362,178
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IRF4
interferon regulatory factor 4
ISO
RGD
PMID:20585039 PMID:21818355 PMID:25006123
RGD:11526159 RGD:11530020 RGD:11530030
NCBI chr17:71,739,920...71,758,811
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IRF8
interferon regulatory factor 8
ISO
RGD
PMID:20585039
RGD:11530030
NCBI chr 5:71,301,878...71,325,622
Ensembl chr 5:71,302,233...71,325,613
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ISX
intestine specific homeobox
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr19:17,827,274...17,850,296
Ensembl chr19:17,828,177...17,852,069
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LOC103242307
TNF superfamily member 13
ISO
RGD
PMID:15488762
RGD:1549466
NCBI chr16:6,935,073...6,938,792
Ensembl chr16:6,926,584...6,938,019
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LOC103247474
cytokine receptor like factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24141364
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MGA
MAX dimerization protein MGA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413735
NCBI chr26:41,215,424...41,381,828
Ensembl chr26:41,218,082...41,311,526
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MYB
MYB proto-oncogene, transcription factor
disease_progression
ISO
mRNA:splice variants:cds:
RGD
PMID:21853052
RGD:11532669
NCBI chr13:38,203,923...38,242,148
Ensembl chr13:38,203,731...38,241,864
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MYC
MYC proto-oncogene, bHLH transcription factor
ISO
RGD
PMID:22120021
RGD:7207416
NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384
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PAX5
paired box 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24013638 PMID:30643249
NCBI chr12:43,547,399...43,748,202
Ensembl chr12:43,548,914...43,740,962
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PDGFRA
platelet derived growth factor receptor alpha
treatment
ISO
RGD
PMID:22447844
RGD:11075097
NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422
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RB1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
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RUNX1
RUNX family transcription factor 1
onset
ISO
DNA:amplification
RGD
PMID:21822204
RGD:6482828
NCBI chr 2:78,819,189...79,082,491
Ensembl chr 2:78,819,194...78,924,495
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STAT3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19796711
NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984
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STAT5A
signal transducer and activator of transcription 5A
ISO
protein:increased phosphorylation:bone marrow (human)
RGD
PMID:27018255
RGD:151665817
NCBI chr16:63,959,265...63,986,627
Ensembl chr16:63,960,515...63,985,026
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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 6:973,033...996,857
Ensembl chr 6:974,144...995,136
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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 9:95,532,228...95,660,594
Ensembl chr 9:95,532,242...95,657,290
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TCF3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562
NCBI chr 6:1,393,147...1,440,515
Ensembl chr 6:1,393,107...1,440,479
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TDO2
tryptophan 2,3-dioxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr 7:102,467,075...102,485,434
Ensembl chr 7:102,467,640...102,485,394
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TFPI
tissue factor pathway inhibitor
treatment
ISO
RGD
PMID:19874310
RGD:11341694
NCBI chr10:73,004,762...73,105,772
Ensembl chr10:73,002,522...73,105,858
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TNFSF8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr12:24,646,797...24,684,341
Ensembl chr12:24,647,412...24,678,466
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TP53
tumor protein p53
disease_progression
ISO
DNA:mutations: :
RGD
PMID:22699455
RGD:11075072
NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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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 1:32,750,300...32,801,832
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WT1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Mixed phenotype acute leukemia with t(v;11q23.3)
ClinVar
PMID:25741868
NCBI chr 1:32,750,300...32,801,832
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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 chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174
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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
NCBI chr 9:44,944,463...45,108,832
Ensembl chr 9:44,941,460...45,027,275
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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:25741868 PMID:28492532 PMID:33471991
NCBI chr 5:21,322,952...21,358,363
Ensembl chr 5:21,322,975...21,358,198
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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 chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
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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 8:138,725,494...138,732,286
Ensembl chr 8:138,725,633...138,732,096
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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 1:110,581,049...110,679,284
Ensembl chr 1:110,581,143...110,674,481
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SDHA
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: B-lymphoblastic leukemia/lymphoma with hypodiploidy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:163,726...190,145
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CTCF
CCCTC-binding factor
disease_progression
ISO
mRNA, protein:increased expression:bone marrow, blood (human)
RGD
PMID:24393203
RGD:151356757
NCBI chr 5:59,806,753...59,889,534
Ensembl chr 5:59,806,551...59,880,049
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ABCG2
ATP binding cassette subfamily G member 2 (JR blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20019844
NCBI chr 7:36,458,110...36,599,753
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BAX
BCL2 associated X, apoptosis regulator
ISO
ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia
ClinVar
PMID:9531611
NCBI chr 6:42,186,028...42,193,105
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BCL10
BCL10 immune signaling adaptor
ISO
ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia
ClinVar
PMID:9989495
NCBI chr20:48,073,489...48,084,635
Ensembl chr20:48,073,800...48,085,136
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BCL11B
BCL11 transcription factor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20972433
NCBI chr24:77,122,591...77,222,562
Ensembl chr24:77,122,689...77,221,454
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BCL2
BCL2 apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23471820
NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
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CARD11
caspase recruitment domain family member 11
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:25384343
RGD:11100039
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CCND3
cyclin D3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chr17:30,107,236...30,228,449
Ensembl chr17:30,221,598...30,227,452
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CNOT3
CCR4-NOT transcription complex subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23263491
NCBI chr 6:46,814,695...46,832,657
Ensembl chr 6:46,819,903...46,836,838
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CSF3R
colony stimulating factor 3 receptor
ISO
ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia
ClinVar
PMID:23604229 PMID:23634996 PMID:23656643 PMID:24081659 PMID:24403076 PMID:24614839 PMID:24854193 PMID:25491280 PMID:25741868 PMID:25932451 PMID:26875968 PMID:27148573 PMID:27581359 PMID:28209919 PMID:28219221 PMID:28492532 PMID:28762112 PMID:30967555 PMID:31697825 More...
NCBI chr20:96,380,798...96,397,745
Ensembl chr20:96,384,222...96,398,618
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CTCF
CCCTC-binding factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chr 5:59,806,753...59,889,534
Ensembl chr 5:59,806,551...59,880,049
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CXCR4
C-X-C motif chemokine receptor 4
treatment
ISO
RGD
PMID:26931577
RGD:11352292
NCBI chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309
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DNMT3A
DNA methyltransferase 3 alpha
disease_progression susceptibility
ISO
DNA:mutations: : ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation:exon:p.R882H(human)
RGD ClinVar
PMID:23341344 PMID:26072070
RGD:11041131 RGD:9589073
NCBI chr14:82,313,414...82,427,170
Ensembl chr14:82,402,826...82,420,819
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EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
RGD
PMID:22431509
RGD:10755340
NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573
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FBXW7
F-box and WD repeat domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562 PMID:24394663
NCBI chr 7:98,894,261...99,105,955
Ensembl chr 7:98,892,504...99,106,084
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HMGA1
high mobility group AT-hook 1
ISO
MouseDO
NCBI chr17:37,848,110...37,857,835
Ensembl chr17:37,849,412...37,853,880
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IL7R
interleukin 7 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21892159
NCBI chr 4:34,701,724...34,724,241
Ensembl chr 4:34,701,531...34,721,361
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JAK1
Janus kinase 1
ISO
DNA:missense mutation: :c.1972G>T (p.V658F) (human)
RGD
PMID:18559588
RGD:18936996
NCBI chr20:68,122,134...68,253,361
Ensembl chr20:68,122,173...68,252,042
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JAK3
Janus kinase 3
ISO
RGD
PMID:25193870
RGD:11531122
NCBI chr 6:16,301,760...16,323,343
Ensembl chr 6:16,300,525...16,322,859
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KRAS
KRAS proto-oncogene, GTPase
ISO
DNA:missense mutation: :p.G12D (mouse)
RGD
PMID:23673656
RGD:11060136
NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191
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LMO1
LIM domain only 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2034676 PMID:3259177 PMID:19246562
NCBI chr 1:56,533,530...56,578,167
Ensembl chr 1:56,571,860...56,577,855
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LMO2
LIM domain only 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2034676 PMID:19246562 PMID:24394663
NCBI chr 1:31,382,437...31,416,256
Ensembl chr 1:31,404,872...31,416,883
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LOC103243413
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chr16:63,997,486...64,070,392
Ensembl chr16:63,997,441...64,070,445
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LYL1
LYL1 basic helix-loop-helix family member
ISO
OMIM
NCBI chr 6:11,778,634...11,785,474
Ensembl chr 6:11,780,766...11,782,618
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MTOR
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562
NCBI chr20:120,522,667...120,678,988
Ensembl chr20:120,525,737...120,679,020
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MYB
MYB proto-oncogene, transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17435759 PMID:28671688
NCBI chr13:38,203,923...38,242,148
Ensembl chr13:38,203,731...38,241,864
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MYCN
MYCN proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chr14:91,685,376...91,692,091
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NBN
nibrin
ISO
MouseDO
NCBI chr 8:85,017,807...85,069,219
Ensembl chr 8:85,015,752...85,069,028
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NOTCH1
notch receptor 1
ISO
ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia
ClinVar
NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585
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NUP98
nucleoporin 98 and 96 precursor
ISO
DNA:translocation:cds: (human)
RGD
PMID:10477737
RGD:9693698
NCBI chr 1:62,924,514...63,050,060
Ensembl chr 1:62,925,050...63,050,111
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PDGFRA
platelet derived growth factor receptor alpha
ISO
RGD
PMID:24486648
RGD:11075087
NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422
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PHF6
PHD finger protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20228800
NCBI chr X:109,531,700...109,595,136
Ensembl chr X:109,531,726...109,593,854
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PTPN11
protein tyrosine phosphatase non-receptor type 11
ISO
ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia
ClinVar
PMID:11992261 PMID:12161469 PMID:15240615 PMID:16358218 PMID:17020470 PMID:17339163 PMID:18470943 PMID:18678287 PMID:19020799 PMID:21106241 PMID:21784453 PMID:21901340 PMID:22681964 PMID:23321623 PMID:24183200 PMID:25741868 PMID:27030275 PMID:28492532 PMID:30732632 PMID:30896080 More...
NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637
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PTPN2
protein tyrosine phosphatase non-receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20473312
NCBI chr18:71,302,082...71,400,201
Ensembl chr18:71,310,577...71,345,960
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RPL10
ribosomal protein L10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23263491
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RPL11
ribosomal protein L11
ISO
DNA:missense mutation, frameshift mutation:p.R18P, p.G30fs (human)
RGD
PMID:23377281
RGD:11535972
NCBI chr20:108,982,781...108,987,667
Ensembl chr20:108,981,723...108,987,734
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RPL5
ribosomal protein L5
ISO
CTD Direct Evidence: marker/mechanism DNA:snps, insertion, deletion:cds:multiple (human)
CTD RGD
PMID:23263491
RGD:11535135
NCBI chr20:40,416,553...40,427,027
Ensembl chr20:40,413,897...40,427,060
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RUNX1
RUNX family transcription factor 1
disease_progression
ISO
RGD
PMID:21828118
RGD:11251708
NCBI chr 2:78,819,189...79,082,491
Ensembl chr 2:78,819,194...78,924,495
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SMARCA4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chr 6:9,943,162...10,044,476
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SPI1
Spi-1 proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671687
NCBI chr 1:17,935,037...17,961,638
Ensembl chr 1:17,935,922...17,961,717
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STAT1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23471820
NCBI chr10:76,492,859...76,537,689
Ensembl chr10:76,492,533...76,533,393
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STAT3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19796711
NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984
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TAL1
TAL bHLH transcription factor 1, erythroid differentiation factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562 PMID:24394663
NCBI chr20:85,681,247...85,697,887
Ensembl chr20:85,688,155...85,694,829
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TCL1A
TCL1 family AKT coactivator A
ISO
mRNA:increased expression:peripheral blood lymphocyte (human)
RGD
PMID:10077617
RGD:1599360
NCBI chr24:73,556,188...73,570,376
Ensembl chr24:73,566,270...73,570,348
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TLX1
T cell leukemia homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20972433
NCBI chr 9:94,147,410...94,155,388
Ensembl chr 9:94,149,126...94,154,520
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TYK2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23471820
NCBI chr 6:9,399,945...9,420,054
Ensembl chr 6:9,399,775...9,417,630
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ZFP36L2
ZFP36 ring finger protein like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chr14:64,019,633...64,022,301
Ensembl chr14:64,019,418...64,026,281
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CNTN2
contactin 2
ISO
MouseDO
NCBI chr25:24,262,092...24,296,740
Ensembl chr25:24,261,651...24,296,850
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ZEB2
zinc finger E-box binding homeobox 2
ISO
MouseDO
NCBI chr10:29,732,934...29,864,157
Ensembl chr10:29,729,305...29,864,205
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LOC103243413
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916 PMID:29200404
NCBI chr16:63,997,486...64,070,392
Ensembl chr16:63,997,441...64,070,445
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ATM
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: T-cell prolymphocytic leukemia
ClinVar
PMID:6504056 PMID:7792600 PMID:8755918 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:9150358 PMID:9288106 PMID:9334731 PMID:9443866 PMID:9463314 PMID:9537233 PMID:9892178 PMID:10817650 PMID:11382771 PMID:11805335 PMID:11830610 PMID:12072552 PMID:12195425 PMID:12552559 PMID:12969974 PMID:14562025 PMID:16652348 PMID:16832357 PMID:16958054 PMID:17001622 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19781682 PMID:20301790 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21933854 PMID:22529920 PMID:22585167 PMID:22649200 PMID:23807571 PMID:24088041 PMID:24733792 PMID:25186627 PMID:25614872 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26506520 PMID:26556299 PMID:26633545 PMID:26662178 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27884168 PMID:27978560 PMID:27988859 PMID:27989354 PMID:28492532 PMID:28779002 PMID:28873162 PMID:29719442 PMID:29915382 PMID:30549301 PMID:31447099 PMID:31948886 PMID:32338768 PMID:32427313 PMID:32748564 PMID:32853339 PMID:33436325 PMID:33439686 PMID:33471991 PMID:33509806 PMID:34117267 More...
NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520
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CUNH11orf65
chromosome unknown C11orf65 homolog
ISO
ClinVar Annotator: match by term: T-cell prolymphocytic leukemia
ClinVar
PMID:6504056 PMID:7792600 PMID:8755918 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:9150358 PMID:9288106 PMID:9443866 PMID:9463314 PMID:9537233 PMID:9892178 PMID:10817650 PMID:11382771 PMID:11805335 PMID:11830610 PMID:12072552 PMID:12195425 PMID:12552559 PMID:12969974 PMID:14562025 PMID:16652348 PMID:16832357 PMID:16958054 PMID:17001622 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19781682 PMID:20301790 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21933854 PMID:22529920 PMID:22585167 PMID:22649200 PMID:24088041 PMID:24733792 PMID:25186627 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26506520 PMID:26556299 PMID:26633545 PMID:26662178 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27884168 PMID:27978560 PMID:27988859 PMID:27989354 PMID:28492532 PMID:28779002 PMID:28873162 PMID:29719442 PMID:29915382 PMID:30549301 PMID:31447099 PMID:31948886 PMID:32338768 PMID:32427313 PMID:32748564 PMID:32853339 PMID:33436325 PMID:33439686 PMID:33471991 PMID:33509806 PMID:34117267 More...
NCBI chr 1:99,804,191...99,879,834
Ensembl chr 1:99,804,218...99,827,182
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JAK3
Janus kinase 3
ISO
DNA:missense mutations:exon:pM511I, p.R657Q (human)
RGD
PMID:24446122
RGD:11531125
NCBI chr 6:16,301,760...16,323,343
Ensembl chr 6:16,300,525...16,322,859
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LOC103243413
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chr16:63,997,486...64,070,392
Ensembl chr16:63,997,441...64,070,445
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TNFSF8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr12:24,646,797...24,684,341
Ensembl chr12:24,647,412...24,678,466
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