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.
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Aicda
activation-induced cytidine deaminase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23589568
NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139
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Bcl2l1
BCL2-like 1
ISO
RGD
PMID:21998213
RGD:11353857
NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648
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Cdkn2b
cyclin dependent kinase inhibitor 2B
IDA
DNA:hypermethylation:promoter:
RGD
PMID:10602427
RGD:11252194
NCBI chr 4:89,224,526...89,229,269
Ensembl chr 4:89,224,536...89,229,276
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Clptm1l
CLPTM1-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24292274
NCBI chr13:73,752,121...73,768,758
Ensembl chr13:73,752,125...73,768,724
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Eng
endoglin
disease_progression
ISO
RGD
PMID:25030442
RGD:11041170
NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681
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Etv6
ets variant 6
ISO
DNA:translocation: :
RGD
PMID:9539781
RGD:10450724
NCBI chr 6:134,012,663...134,247,121
Ensembl chr 6:134,012,663...134,247,121
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Fcgr2b
Fc receptor, IgG, low affinity IIb
treatment
ISO
RGD
PMID:20705761
RGD:11344969
NCBI chr 1:170,786,186...170,804,141
Ensembl chr 1:170,786,186...170,804,116
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Fcgr3
Fc receptor, IgG, low affinity III
no_association treatment
ISO
DNA:polymorphism:exon:p.H131A (human)
RGD
PMID:15217834 PMID:20705761
RGD:11344968 , RGD:11344969
NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504
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Fcgr4
Fc receptor, IgG, low affinity IV
no_association
ISO
DNA:polymorphism:exon:p.F158V (rs396991) (human)
RGD
PMID:15217834
RGD:11344968
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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Gsr
glutathione reductase
ISO
protein:increased activity:erythrocyte:
RGD
PMID:8569275
RGD:11059504
NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191
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Gstm1
glutathione S-transferase, mu 1
susceptibility
ISO
RGD
PMID:22537952
RGD:10450797
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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Gstp1
glutathione S-transferase, pi 1
susceptibility
ISO
DNA:polymorphism:cds:p.I105V(human)
RGD
PMID:12010828
RGD:10755404
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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Gstt1
glutathione S-transferase, theta 1
susceptibility
ISO
RGD
PMID:22537952
RGD:10450797
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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Ipcef1
interaction protein for cytohesin exchange factors 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24292274
NCBI chr10:6,835,779...6,973,185
Ensembl chr10:6,835,796...7,002,478
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Kmt2a
lysine (K)-specific methyltransferase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17463288
NCBI chr 9:44,714,652...44,793,492
Ensembl chr 9:44,714,652...44,792,594
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Lyl1
lymphoblastomic leukemia 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3162254
NCBI chr 8:85,428,051...85,432,876
Ensembl chr 8:85,428,078...85,431,569
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Mecom
MDS1 and EVI1 complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770046
NCBI chr 3:30,005,445...30,563,937
Ensembl chr 3:30,005,445...30,602,157
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Pot1a
protection of telomeres 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23502782 PMID:24292274
NCBI chr 6:25,743,939...25,809,280
Ensembl chr 6:25,743,736...25,809,245
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Runx1
runt related transcription factor 1
ISO
DNA:translocation: :
RGD
PMID:9539781
RGD:10450724
NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037
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Tal1
T cell acute lymphocytic leukemia 1
IAGP
MouseDO
NCBI chr 4:114,913,623...114,928,952
Ensembl chr 4:114,913,623...114,928,952
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Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24292274
NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
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Dot1l
DOT1 like histone lysine methyltransferase
treatment
ISO
RGD
PMID:23801631
RGD:9588291
NCBI chr10:80,590,935...80,631,295
Ensembl chr10:80,591,040...80,631,295
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Rnf20
ring finger protein 20
disease_progression
IMP
RGD
PMID:23412334
RGD:9831405
NCBI chr 4:49,632,005...49,656,887
Ensembl chr 4:49,632,006...49,656,887
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Ercc2
excision repair cross-complementing rodent repair deficiency, complementation group 2
ISO
ClinVar Annotator: match by term: Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified
ClinVar
PMID:7585650 PMID:8571952 PMID:9195225 PMID:9238033 PMID:15982307 PMID:16135823 PMID:22234153 PMID:23221806 PMID:23232694 PMID:24728327 PMID:25716912 PMID:25741868 PMID:26884178 PMID:27504877 PMID:28492532 PMID:29607586 PMID:35699229 More...
NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619
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Abcb1a
ATP-binding cassette, sub-family B member 1A
susceptibility
ISO
DNA:snps, haplotype:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22674224 PMID:22674224
RGD:8657089
NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
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Abcc2
ATP-binding cassette, sub-family member 2
treatment
ISO
DNA:SNP:5'UTR:rs717620(human) DNA:SNPs: :rs717620(human)
RGD
PMID:24404132 PMID:25007187
RGD:11080959 , RGD:11080979
NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179
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Abcg2
ATP binding cassette subfamily G member 2 (Junior blood group)
disease_progression
ISO
mRNA:increased expression:mononuclear cell:
RGD
PMID:15521915 PMID:12100141
RGD:11081076 , RGD:11081143
NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661
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Abl1
c-abl oncogene 1, non-receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11984797 PMID:21898527
NCBI chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239
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Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
susceptibility
ISO
RGD
PMID:17065136
RGD:11100012
NCBI chr 2:26,732,508...26,754,973
Ensembl chr 2:26,732,515...26,754,991
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Aicda
activation-induced cytidine deaminase
treatment
ISO
RGD
PMID:19759560
RGD:11039451
NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139
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Arid5b
AT-rich interaction domain 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19684603 PMID:19684604
NCBI chr10:67,928,353...68,114,596
Ensembl chr10:67,928,350...68,114,570
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Arnt
aryl hydrocarbon receptor nuclear translocator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chr 3:95,341,674...95,404,551
Ensembl chr 3:95,341,699...95,404,551
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Bax
BCL2-associated X protein
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322
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Bcl2
B cell leukemia/lymphoma 2
severity
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:25982455
RGD:11076595
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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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 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648
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Bcr
BCR activator of RhoGEF and GTPase
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr10:74,896,384...75,020,753
Ensembl chr10:74,896,424...75,020,753
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Casp8
caspase 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22010212
NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662
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Cast
calpastatin
ISO
protein:increased expresssion:B cell
RGD
PMID:11264179
RGD:5509822
NCBI chr13:74,840,485...74,956,993
Ensembl chr13:74,840,487...74,956,929
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Ccnd1
cyclin D1
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:22391157
RGD:11352824
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
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Cd40lg
CD40 ligand
IMP
RGD
PMID:9292526
RGD:11352271
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cd46
CD46 antigen, complement regulatory protein
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:16353080
RGD:11352810
NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557
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Cd79b
CD79B antigen
ISO
protein:decreased expression:bone marrow, mononuclear cell (human)
RGD
PMID:21487112
RGD:11250414
NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588
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Cd86
CD86 antigen
severity
ISO
protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human)
RGD
PMID:24283754
RGD:11354967
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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Cdk6
cyclin dependent kinase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24736461
NCBI chr 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008
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Cdkn2a
cyclin dependent kinase inhibitor 2A
disease_progression no_association susceptibility
ISO
DNA:deletion: : DNA:missense mutations:cds: CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia
CTD ClinVar RGD
PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 PMID:9166859 PMID:9389568 PMID:9823374 PMID:10389768 PMID:10667595 PMID:10719365 PMID:11518711 PMID:11687599 PMID:15075790 PMID:16234564 PMID:16818274 PMID:16896043 PMID:17218939 PMID:18335566 PMID:18519632 PMID:20453839 PMID:21085193 PMID:21462282 PMID:22440936 PMID:24733792 PMID:25078331 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26670561 PMID:26681309 PMID:27756164 PMID:27960642 PMID:27993330 PMID:28454591 PMID:28492532 PMID:28640387 PMID:28765326 PMID:28830827 PMID:30207590 PMID:30339520 PMID:31921681 PMID:32191290 PMID:33823155 PMID:35001868 PMID:10090949 PMID:9204978 PMID:25675863 PMID:26104880 More...
RGD:11251764 , RGD:11252081 , RGD:11252082 , RGD:11057958
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Cdkn2b
cyclin dependent kinase inhibitor 2B
ISO
ClinVar Annotator: match by term: Acute lymphoid leukemia
ClinVar
PMID:27993330
NCBI chr 4:89,224,526...89,229,269
Ensembl chr 4:89,224,536...89,229,276
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Cebpe
CCAAT/enhancer binding protein epsilon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19684604
NCBI chr14:54,947,823...54,949,604
Ensembl chr14:54,947,817...54,949,631
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Cfb
complement factor B
ISO
DNA:missense mutation:p.R32Q b(human)
RGD
PMID:6958349
RGD:11041155
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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Crebbp
CREB binding protein
disease_progression
ISO
DNA:mutations:multiple
RGD
PMID:25917266
RGD:11060149
NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861
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Crlf2
cytokine receptor-like factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838194
NCBI chr 5:109,702,575...109,707,301
Ensembl chr 5:109,702,575...109,706,859
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Csf3
colony stimulating factor 3 (granulocyte)
treatment
ISO
RGD
PMID:9250830
RGD:11039038
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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Cspg4
chondroitin sulfate proteoglycan 4
severity
ISO
RGD
PMID:8562939
RGD:734840
NCBI chr 9:56,772,388...56,807,154
Ensembl chr 9:56,772,317...56,807,154
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Cyba
cytochrome b-245, alpha polypeptide
ISO
mRNA:increased expression:peripheral blood mononuclear cell:
RGD
PMID:19222940
RGD:11040545
NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
susceptibility no_association
ISO
DNA:polymorphism:3"UTR:rs4646903(human) DNA:polymorphism:cds:2452C>A(p.T461N)(human) DNA:polymorphism:3'UTR:3801T>C(human)
RGD
PMID:22964275 PMID:23725389 PMID:16676594
RGD:11352714 , RGD:11352725 , RGD:11352728
NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
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Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chr 9:57,584,220...57,590,938
Ensembl chr 9:57,584,220...57,590,986
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490
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Cyp2c29
cytochrome P450, family 2, subfamily c, polypeptide 29
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chr19:39,275,541...39,319,157
Ensembl chr19:39,257,849...39,319,157
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Cyp2d22
cytochrome P450, family 2, subfamily d, polypeptide 22
susceptibility
ISO
DNA:polymorphisms: : DNA:SNP,deletion:splice junction,exon:1934G>A(human)
RGD
PMID:11037802 PMID:19593802
RGD:11352820 , RGD:11252111
NCBI chr15:82,254,728...82,264,461
Ensembl chr15:82,254,728...82,264,461
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11774269
NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900
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Cyp3a13
cytochrome P450, family 3, subfamily a, polypeptide 13
disease_progression susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:19650988 PMID:22215203
RGD:11353796 , RGD:11353805
NCBI chr 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881
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Dhfr
dihydrofolate reductase
disease_progression
ISO
DNA:polymorphisms, haplotype:promoter: DNA:polymorphisms: :-317A>G, 829C>T (human)
RGD
PMID:19861437 PMID:9226157 PMID:22969948 PMID:12972803
RGD:11039542 , RGD:11039543 , RGD:11039544 , RGD:11039545
NCBI chr13:92,491,291...92,525,561
Ensembl chr13:92,491,234...92,525,561
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Dnmt3a
DNA methyltransferase 3A
treatment
ISO
DNA:mutations:exon, intron:p.R882(human)
RGD
PMID:25242092
RGD:11041125
NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443
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Dntt
deoxynucleotidyltransferase, terminal
ISO
protein:increased activity:peripheral blood,bone marrow:
RGD
PMID:7020399
RGD:8694149
NCBI chr19:41,017,701...41,047,964
Ensembl chr19:41,017,714...41,047,964
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Dpyd
dihydropyrimidine dehydrogenase
no_association disease_progression
ISO
DNA:SNP: :85T>C (human) DNA:SNPs: :2194G>A, 1156G>T (human) DNA:splice-site mutation:intron:IVS14+1G>A (human)
RGD
PMID:26846104 PMID:26846104 PMID:26846104
RGD:11098453 , RGD:11098453 , RGD:11098453
NCBI chr 3:118,355,758...119,226,573
Ensembl chr 3:118,355,778...119,226,573
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Duxbl1
double homeobox B-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27776115
NCBI chr14:25,979,011...25,990,590
Ensembl chr14:25,979,001...25,990,512
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Ehmt1
euchromatic histone methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32889036
NCBI chr 2:24,680,781...24,809,658
Ensembl chr 2:24,679,940...24,809,626
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Ehmt2
euchromatic histone lysine N-methyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32889036
NCBI chr17:35,117,427...35,133,049
Ensembl chr17:35,117,445...35,133,028
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Eng
endoglin
disease_progression
ISO
RGD
PMID:17572488
RGD:11041565
NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681
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Ephx1
epoxide hydrolase 1, microsomal
susceptibility no_association
ISO
DNA:missense mutation, haplotype:exon:p.Y113H (human) DNA:missense mutation, haplotype:exon:p.H139R (human) DNA:polymorphisms:exon DNA:SNPs:exon:rs1051740, rs2234922 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21983886 PMID:21983886 PMID:21983886 PMID:19593802 PMID:22930568 PMID:22200898 More...
RGD:11252110 , RGD:11252110 , RGD:11252111 , RGD:11252113 , RGD:11252114
NCBI chr 1:180,817,121...180,845,134
Ensembl chr 1:180,803,775...180,848,469
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Ercc1
excision repair cross-complementing rodent repair deficiency, complementation group 1
susceptibility
ISO
DNA:SNPs: :8092C>A, 19007G>A (human) DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human)
RGD
PMID:16723154 PMID:16435384
RGD:11252160 , RGD:11340204
NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449
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Ercc2
excision repair cross-complementing rodent repair deficiency, complementation group 2
no_association
ISO
DNA:missense mutations: :p.D312N, p.K751Q (human) DNA:haplotype
RGD
PMID:19101034 PMID:21987080
RGD:11252192 , RGD:11340201
NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619
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Erg
ETS transcription factor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute lymphoid leukemia
CTD ClinVar
PMID:27776115 PMID:27993330
NCBI chr16:95,160,028...95,387,452
Ensembl chr16:95,160,028...95,387,452
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Etv6
ets variant 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute lymphoid leukemia
CTD ClinVar
PMID:17255265 PMID:26102509
NCBI chr 6:134,012,663...134,247,121
Ensembl chr 6:134,012,663...134,247,121
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
IAGP
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545
MouseDO
NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275
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F3
coagulation factor III
ISO
RGD
PMID:8429686
RGD:11340211
NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697
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Fas
Fas cell surface death receptor
disease_progression
ISO
protein:increased expression:CD34+ bone marrow cell
RGD
PMID:10500800 PMID:9711907
RGD:11049148 , RGD:11049157
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fga
fibrinogen alpha chain
ISO
protein:increased expression:serum (human)
RGD
PMID:25317080
RGD:11040558
NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934
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Flt3
FMS-like tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Acute lymphoid leukemia CTD Direct Evidence: marker/mechanism
ClinVar CTD 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 5:147,267,551...147,337,299
Ensembl chr 5:147,267,551...147,337,299
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Fpgs
folylpolyglutamyl synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25013492
NCBI chr 2:32,572,621...32,594,163
Ensembl chr 2:32,572,621...32,594,157
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35115686
NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845
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Gfi1b
growth factor independent 1B
ISO
mRNA:increased expression:blood:
RGD
PMID:19360458
RGD:11040460
NCBI chr 2:28,499,462...28,511,994
Ensembl chr 2:28,499,462...28,511,994
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Gh
growth hormone
treatment
ISO
RGD
PMID:2494952
RGD:11352727
NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691
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Gnb1
guanine nucleotide binding protein (G protein), beta 1
ISO
CTD Direct Evidence: marker/mechanism 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 CTD 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 chr 4:155,575,514...155,643,726
Ensembl chr 4:155,575,818...155,643,726
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Gpi1
glucose-6-phosphate isomerase 1
ISO
RGD
PMID:6589021
RGD:11051848
NCBI chr 7:33,900,752...33,929,761
Ensembl chr 7:33,900,755...33,929,761
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Gpx1
glutathione peroxidase 1
treatment
ISO
RGD
PMID:17317918 PMID:24698347
RGD:11352774 , RGD:11352812
NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542
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Gsr
glutathione reductase
ISO
RGD
PMID:24191316
RGD:11059506
NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191
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Gstm1
glutathione S-transferase, mu 1
disease_progression susceptibility no_association
ISO
RGD
PMID:10666194 PMID:15738600 PMID:12827651 PMID:14607752
RGD:10450829 , RGD:10755321 , RGD:10755409 , RGD:10755410
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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Gstp1
glutathione S-transferase, pi 1
disease_progression no_association susceptibility
ISO
DNA:haplotype:cds: DNA:polymorphism: :1578 a>G(human) DNA:transition mutation:exon:
RGD
PMID:10666194 PMID:23979883 PMID:15738600
RGD:10450829 , RGD:10755417 , RGD:10755321
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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Gstt1
glutathione S-transferase, theta 1
disease_progression susceptibility
ISO
RGD
PMID:10666194 PMID:14607752
RGD:10450829 , RGD:10755410
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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H1f2
H1.2 linker histone, cluster member
susceptibility
ISO
DNA:SNP, haplotype:enhancer: (rs807212) (human)
RGD
PMID:19806355
RGD:10755490
NCBI chr13:23,922,790...23,923,514
Ensembl chr13:23,922,791...23,924,350
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H2-Aa
histocompatibility 2, class II antigen A, alpha
ISO
DNA:polymorphisms, haplotype:cds:HLA-DQA1*01 (human)
RGD
PMID:9744491
RGD:11041762
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
DNA:polymorphisms, haplotypes:cds:multiple DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human)
RGD
PMID:22434102 PMID:9744491
RGD:11041749 , RGD:11041762
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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Hck
hemopoietic cell kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17344919
NCBI chr 2:152,950,388...152,993,361
Ensembl chr 2:152,950,388...152,993,361
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Hdac1
histone deacetylase 1
disease_progression
ISO
mRNA:increased expression:bone marrow,blood:
RGD
PMID:23948281
RGD:9681454
NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506
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Hdac2
histone deacetylase 2
disease_progression
ISO
mRNA:increased expression:bone marrow,blood:
RGD
PMID:23948281
RGD:9681454
NCBI chr10:36,850,293...36,877,885
Ensembl chr10:36,850,540...36,877,885
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Hdac4
histone deacetylase 4
treatment
ISO
RGD
PMID:23948281
RGD:9681454
NCBI chr 1:91,856,501...92,123,424
Ensembl chr 1:91,856,501...92,123,421
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Hfe
homeostatic iron regulator
no_association
ISO
DNA:missense mutation:cds:p.H63D (human) DNA:missense mutation:cds:p.C282Y (human) DNA:missense mutation: :p.H63D (human)
RGD
PMID:10627122 PMID:10627122 PMID:17107905
RGD:10755557 , RGD:10755557 , RGD:10755558
NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837
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Hk1
hexokinase 1
ISO
protein:decreased activity:platelet
RGD
PMID:21921332
RGD:11353881
NCBI chr10:62,104,634...62,215,699
Ensembl chr10:62,104,634...62,215,687
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Hlf
hepatic leukemia factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26214592
NCBI chr11:90,227,361...90,281,745
Ensembl chr11:90,227,362...90,281,721
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Hoxd4
homeobox D4
ISO
ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:15776434
NCBI chr 2:74,552,322...74,559,504
Ensembl chr 2:74,542,273...74,559,504
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Idh1
isocitrate dehydrogenase 1 (NADP+), soluble
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659
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Ifng
interferon gamma
susceptibility
ISO
DNA:SNP: :rs2069727(human)
RGD
PMID:21067287
RGD:10755691
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Ikzf1
IKAROS family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism 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 DNA:SNPs: (human)
CTD ClinVar RGD
PMID:19684604 PMID:25741868 PMID:27993330 PMID:28492532 PMID:24786325
RGD:151347631
NCBI chr11:11,634,970...11,722,930
Ensembl chr11:11,634,980...11,722,926
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Ikzf2
IKAROS family zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chr 1:69,570,382...69,726,510
Ensembl chr 1:69,570,373...69,726,404
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Ikzf3
IKAROS family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chr11:98,355,436...98,437,157
Ensembl chr11:98,355,728...98,436,857
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Il10
interleukin 10
treatment
ISO
protein:decreased expression:blood
RGD
PMID:21653647 PMID:15860861
RGD:11049158 , RGD:11049169
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Irf4
interferon regulatory factor 4
ISO
DNA:SNP:intron:rs12203592 (human)
RGD
PMID:19897031
RGD:11526162
NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959
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Itpa
inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
treatment no_association
ISO
DNA:SNPs:exon:94C>A, 138G>A (human) DNA:SNP:intron
RGD
PMID:22009189 PMID:22009189
RGD:10766474 , RGD:10766474
NCBI chr 2:130,506,702...130,523,534
Ensembl chr 2:130,509,530...130,523,534
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Kdm2b
lysine (K)-specific demethylase 2B
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:21310926
RGD:9588255
NCBI chr 5:123,008,727...123,127,333
Ensembl chr 5:123,008,728...123,127,886
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Kdm3b
KDM3B lysine (K)-specific demethylase 3B
ISO
protein:increased expression:bone marrow, mononuclear cell (human)
RGD
PMID:22615488
RGD:9586728
NCBI chr18:34,910,061...34,972,423
Ensembl chr18:34,910,100...34,971,713
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Kdm6a
lysine (K)-specific demethylase 6A
severity
ISO
DNA:mutations:cds:multiple (human)
RGD
PMID:22377896
RGD:9684944
NCBI chr X:18,027,101...18,147,061
Ensembl chr X:18,028,814...18,146,175
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Kmt2a
lysine (K)-specific methyltransferase 2A
IAGP ISO
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 CTD Direct Evidence: marker/mechanism
MouseDO CTD
PMID:24736461 PMID:25730765
NCBI chr 9:44,714,652...44,793,492
Ensembl chr 9:44,714,652...44,792,594
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Kras
Kirsten rat sarcoma viral oncogene homolog
disease_progression
ISO
RGD
PMID:17910045 PMID:25917266
RGD:11060148 , RGD:11060149
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Lmo2
LIM domain only 2
IAGP
OMIM:247640 | OMIM:613065
MouseDO
NCBI chr 2:103,788,309...103,812,223
Ensembl chr 2:103,788,331...103,812,223
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Mefv
Mediterranean fever
susceptibility
ISO
DNA:polymorphisms:cds:p.E148Q,M680I(human)
RGD
PMID:22942567
RGD:11531121
NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961
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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)
CTD RGD
PMID:16706930 PMID:19923983 PMID:21644011
RGD:10449398 , RGD:10449407
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
disease_progression susceptibility no_association
ISO
DNA:SNP::rs10925235(human) DNA:polymorphism: :66A>G(human) DNA:polymorphism: :2756A>G(human)
RGD
PMID:26605150 PMID:21618417 PMID:15159311 PMID:22453148
RGD:11531136 , RGD:11531141 , RGD:11531140 , RGD:11531137
NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:haplotype:cds: CTD Direct Evidence: marker/mechanism DNA:SNP: :rs3776455(human)
CTD RGD
PMID:17136115 PMID:17136115 PMID:23940529
RGD:11531133 , RGD:11531135
NCBI chr13:68,708,897...68,730,273
Ensembl chr13:68,708,899...68,730,268
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Myc
myelocytomatosis oncogene
disease_progression
ISO
RGD
PMID:25784651
RGD:11532748
NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
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Nat2
N-acetyltransferase 2 (arylamine N-acetyltransferase)
susceptibility no_association
ISO
DNA:polymorphisms: : DNA:polymorphisms,haplotype: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22200898 PMID:25804798 PMID:21888617 PMID:22215203
RGD:11532767 , RGD:11532769 , RGD:11353805
NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236
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Nbn
nibrin
ISO
CTD Direct Evidence: marker/mechanism 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 CTD 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 4:15,955,388...15,992,589
Ensembl chr 4:15,957,925...15,992,589
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Nos3
nitric oxide synthase 3, endothelial cell
susceptibility disease_progression
ISO
DNA:SNP: :rs3918186(human) DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human)
RGD
PMID:23922896 PMID:20510681
RGD:11533639 , RGD:11533646
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Notch3
notch 3
IAGP
OMIM:247640 | OMIM:613065
MouseDO
NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826
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Nqo1
NAD(P)H dehydrogenase, quinone 1
ISO
DNA:mutation: :609C>T (human) DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11774269 PMID:17332311 PMID:18444911 PMID:11774269
RGD:10769347 , RGD:10769359
NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838
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Nras
neuroblastoma ras oncogene
disease_progression
ISO
DNA:missense mutation:cds:
RGD
PMID:25204082
RGD:11535045
NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230
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Nsd2
nuclear receptor binding SET domain protein 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24076604
NCBI chr 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319
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Nt5c2
5'-nucleotidase, cytosolic II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23377183
NCBI chr19:46,873,829...47,003,613
Ensembl chr19:46,871,756...47,003,592
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Nup214
nucleoporin 214
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
NCBI chr 2:31,864,446...31,943,204
Ensembl chr 2:31,864,448...31,943,987
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Pag1
phosphoprotein associated with glycosphingolipid microdomains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chr 3:9,752,539...9,898,744
Ensembl chr 3:9,752,539...9,898,739
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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:24013638 PMID:24728327 PMID:25741868 PMID:26214592 PMID:27993330 PMID:28492532 PMID:30643249 PMID:35094443 More...
NCBI chr 4:44,524,748...44,710,694
Ensembl chr 4:44,524,757...44,710,487
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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 chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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Pramex1
PRAME like, X-linked 1
severity
ISO
mRNA:increased expression:blood (human)
RGD
PMID:27275197
RGD:11535025
NCBI chr X:134,513,662...134,528,437
Ensembl chr X:134,513,751...134,528,454
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Prdm14
PR domain containing 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19043588
NCBI chr 1:13,183,649...13,197,467
Ensembl chr 1:13,183,681...13,197,387
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Pten
phosphatase and tensin homolog
IAGP
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545
MouseDO
NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Runx1
runt related transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17255265
NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037
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Slc19a1
solute carrier family 19 (folate transporter), member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17255265
NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836
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Snrpe
small nuclear ribonucleoprotein E
severity
ISO
mRNA:decreased expression:bone marrow, blood, mononuclear cell (human)
RGD
PMID:23915977
RGD:10768836
NCBI chr 1:133,531,609...133,538,018
Ensembl chr 1:133,531,609...133,538,029
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Tal1
T cell acute lymphocytic leukemia 1
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 4:114,913,623...114,928,952
Ensembl chr 4:114,913,623...114,928,952
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Tal2
T cell acute lymphocytic leukemia 2
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 4:53,779,701...53,788,712
Ensembl chr 4:53,779,705...53,788,712
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Tas2r103
taste receptor, type 2, member 103
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838194
NCBI chr 6:133,013,126...133,014,064
Ensembl chr 6:133,013,126...133,014,064
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Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26214592
NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481
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Tcn2
transcobalamin 2
ISO
protein:altered activity:plasma:
RGD
PMID:8754152
RGD:11059889
NCBI chr11:3,867,077...3,882,078
Ensembl chr11:3,867,192...3,882,159
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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:23066086 PMID:15621763
RGD:11038654 , RGD:11038667
NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
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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 chr14:122,342,290...122,397,015
Ensembl chr14:122,344,450...122,397,016
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Tpmt
thiopurine methyltransferase
treatment no_association
ISO
DNA:SNPs:multiple DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human) DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human) DNA:SNPs: :multiple
RGD
PMID:17164697 PMID:22009189 PMID:22009189 PMID:24499706
RGD:11038720 , RGD:10766474 , RGD:10766474 , RGD:11038723
NCBI chr13:47,175,463...47,196,833
Ensembl chr13:47,175,958...47,198,213
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Trp53
transformation related protein 53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Ttc12
tetratricopeptide repeat domain 12
ISO
DNA:hypermethylation:5'end:CpG dinucleotide
RGD
PMID:17657212
RGD:405866376
NCBI chr 9:49,348,261...49,397,572
Ensembl chr 9:49,348,263...49,397,525
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Tyms
thymidylate synthase
treatment
ISO
DNA:repeats: : rs347430033(human)
RGD
PMID:25007187
RGD:11080979
NCBI chr 5:30,243,544...30,279,261
Ensembl chr 5:30,263,200...30,278,615
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Vpreb1a
V-set pre-B cell surrogate light chain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26214592
NCBI chr16:16,686,265...16,687,119
Ensembl chr16:16,686,267...16,688,707
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Xrcc1
X-ray repair complementing defective repair in Chinese hamster cells 1
susceptibility no_association
ISO
DNA:missense mutation, haplotype: :p.R399Q (human) DNA:missense mutation: :p.R194W (human) DNA:missense mutation: :p.R399Q (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21983886 PMID:21983886 PMID:19101034 PMID:19101034
RGD:11252110 , RGD:11252192 , RGD:11252192
NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865
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Abl1
c-abl 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 chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239
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Crlf2
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
NCBI chr 5:109,702,575...109,707,301
Ensembl chr 5:109,702,575...109,706,859
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Cyp2b10
cytochrome P450, family 2, subfamily b, polypeptide 10
susceptibility
ISO
DNA:polymorphism:G15631T
RGD
PMID:19144407
RGD:6480472
NCBI chr 7:25,597,083...25,626,049
Ensembl chr 7:25,597,045...25,626,049
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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 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
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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 chr15:9,505,880...9,530,270
Ensembl chr15:9,505,874...9,530,262
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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 chr19:29,298,754...29,302,718
Ensembl chr19:29,298,744...29,302,756
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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 chr 4:101,009,171...101,122,493
Ensembl chr 4:101,009,564...101,122,479
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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 chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480
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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 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219
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Birc5
baculoviral IAP repeat-containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16497974
NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569
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Bmp6
bone morphogenetic protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18688853
NCBI chr13:38,529,098...38,684,283
Ensembl chr13:38,529,083...38,684,278
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Card11
caspase recruitment domain family, member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 5:140,858,109...140,986,398
Ensembl chr 5:140,858,745...140,986,337
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Ccr4
C-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 9:114,319,384...114,334,544
Ensembl chr 9:114,319,384...114,333,984
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Ccr7
C-C motif chemokine receptor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr11:99,035,025...99,045,903
Ensembl chr11:99,035,022...99,045,903
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Cd163
CD163 antigen
disease_progression
ISO
protein:increased expression:lymph node tumor (human)
RGD
PMID:23557330
RGD:42721976
NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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Cd274
CD274 antigen
disease_progression
ISO
RGD
PMID:27418641
RGD:41412177
NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
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Cd28
CD28 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
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Cd68
CD68 antigen
disease_progression
ISO
protein:increased expression:lymph node tumor (human)
RGD
PMID:23557330
RGD:42721976
NCBI chr11:69,555,039...69,556,996
Ensembl chr11:69,555,039...69,556,979
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Cd80
CD80 antigen
ISO
RGD
PMID:10590132
RGD:6902938
NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697
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Cd86
CD86 antigen
ISO
RGD
PMID:10590132
RGD:6902938
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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Csnk1a1
casein kinase 1, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr18:61,687,307...61,723,391
Ensembl chr18:61,688,345...61,723,132
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Csnk2a1
casein kinase 2, alpha 1 polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 2:152,068,468...152,123,772
Ensembl chr 2:152,068,759...152,123,772
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Csnk2b
casein kinase 2, beta polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr17:35,335,171...35,341,029
Ensembl chr17:35,335,172...35,341,029
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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Fas
Fas cell surface death receptor
susceptibility
ISO
DNA:polymorphism:promoter: -670 G>A(human) protein:increased expression:peripheral blood mononuclear cell:
RGD
PMID:17962369 PMID:7513372
RGD:11049147 , RGD:11049453
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Foxp3
forkhead box P3
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23962110 PMID:23797717
RGD:38456007
NCBI chr X:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484
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Fyn
Fyn proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr10:39,245,735...39,441,377
Ensembl chr10:39,244,851...39,441,377
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845
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Gpr183
G protein-coupled receptor 183
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr14:122,189,743...122,202,605
Ensembl chr14:122,189,963...122,202,607
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Hnrnpa2b1
heterogeneous nuclear ribonucleoprotein A2/B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 6:51,437,414...51,448,054
Ensembl chr 6:51,437,912...51,446,874
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Icos
inducible T cell co-stimulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 1:60,999,909...61,039,481
Ensembl chr 1:61,017,086...61,039,479
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Ifna1
interferon alpha 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20370541
NCBI chr 4:88,768,324...88,768,893
Ensembl chr 4:88,768,324...88,768,893
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Ifng
interferon gamma
treatment
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23962110 PMID:8800741
RGD:10755707
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Ikzf2
IKAROS family zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 1:69,570,382...69,726,510
Ensembl chr 1:69,570,373...69,726,404
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23962110 PMID:8704212
RGD:11049460
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23962110
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23962110
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Il5
interleukin 5
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:16425276
RGD:11354942
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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Il6
interleukin 6
ISO
protein:increased expression:serum (human)
RGD
PMID:10374863
RGD:11060275
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Irf4
interferon regulatory factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959
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Jak3
Janus kinase 3
ISO
DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human)
RGD
PMID:21821710
RGD:11531131
NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219
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Myb
myeloblastosis oncogene
disease_progression
ISO
mRNA:splice variants:CD4+ T cell:
RGD
PMID:27307595
RGD:11532670
NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883
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Notch1
notch 1
ISO
DNA:mutations:multiple (human)
RGD
PMID:16707600
RGD:1580759
NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675
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Nras
neuroblastoma ras oncogene
disease_progression
IMP
RGD
PMID:21586752
RGD:11535055
NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230
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Plcg1
phospholipase C, gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 2:160,573,230...160,617,680
Ensembl chr 2:160,573,220...160,617,680
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Prkcb
protein kinase C, beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 7:121,888,327...122,233,625
Ensembl chr 7:121,887,974...122,233,625
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24090995
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Tal2
T cell acute lymphocytic leukemia 2
ISO
RGD
PMID:1763056
RGD:1599285
NCBI chr 4:53,779,701...53,788,712
Ensembl chr 4:53,779,705...53,788,712
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Terf2
telomeric repeat binding factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17643074
NCBI chr 8:107,796,032...107,823,180
Ensembl chr 8:107,796,032...107,823,179
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Tlx1
T cell leukemia, homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1717256
NCBI chr19:45,138,531...45,145,382
Ensembl chr19:45,139,119...45,145,382
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Tnfsf8
tumor necrosis factor (ligand) superfamily, member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584
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Trp53
transformation related protein 53
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Trp73
transformation related protein 73
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665
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Vav1
vav 1 oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr17:57,586,080...57,636,236
Ensembl chr17:57,586,100...57,635,031
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Ercc4
excision repair cross-complementing rodent repair deficiency, complementation group 4
ISO
ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia
ClinVar
PMID:23623386 PMID:25741868
NCBI chr16:12,927,600...12,969,873
Ensembl chr16:12,927,548...12,968,481
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LOC107983946
Wt1 promoter region
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 2:104,956,361...104,957,127
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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 chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
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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 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961
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Abcg2
ATP binding cassette subfamily G member 2 (Junior blood group)
susceptibility
ISO
DNA:SNPs,haplotype: :rs1481012,rs2231142(human)
RGD
PMID:21918980
RGD:11080977
NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661
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Acoxl
acyl-Coenzyme A oxidase-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 2:127,680,717...127,968,172
Ensembl chr 2:127,680,796...127,965,793
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Aicda
activation-induced cytidine deaminase
disease_progression
ISO
RGD
PMID:21133730
RGD:11039455
NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139
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Apoe
apolipoprotein E
disease_progression
ISO
RGD
PMID:18784741
RGD:11040549
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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Atm
ataxia telangiectasia mutated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17968022
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Bcl11a
BCL11 transcription factor A
ISO
DNA:translocation:5' utr: (human)
RGD
PMID:11719382
RGD:11100004
NCBI chr11:24,026,498...24,123,558
Ensembl chr11:24,028,056...24,124,123
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Bcl2
B cell leukemia/lymphoma 2
treatment severity no_association
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:B cell (human) DNA:snp:promoter:g.-938C>A (human)
CTD RGD
PMID:21750559 PMID:23770605 PMID:17296974 PMID:20001236 PMID:17959858 PMID:16960146 More...
RGD:11522735 , RGD:11526110 , RGD:11526105 , RGD:11526104
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Bmf
BCL2 modifying factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 2:118,359,238...118,385,240
Ensembl chr 2:118,359,238...118,380,168
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Braf
Braf transforming gene
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 chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
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Btk
Bruton agammaglobulinemia tyrosine kinase
treatment
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar RGD
PMID:24869598 PMID:25741868 PMID:28492532 PMID:23045577
RGD:11040699
NCBI chr X:133,443,083...133,484,366
Ensembl chr X:133,443,085...133,484,319
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Cbl
Casitas B-lineage lymphoma
severity
ISO
mRNA,protein:increased expression:CD5+ B cell: DNA:hypophosphorylation:CD5+ B cell:
RGD
PMID:17804547 PMID:17804547
RGD:11038803 , RGD:11038803
NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346
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Ccdc50
coiled-coil domain containing 50
ISO
RGD
PMID:19641524
RGD:9685139
NCBI chr16:27,205,815...27,270,968
Ensembl chr16:27,207,619...27,270,968
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Cd40
CD40 antigen
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd40lg
CD40 ligand
IMP
mouse-human chimeric gene in human
RGD
PMID:20882050
RGD:11352235
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cd5
CD5 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr19:10,695,471...10,716,390
Ensembl chr19:10,694,480...10,716,366
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Cd79b
CD79B antigen
ISO
protein:decreased expression:B lymphocyte, cell surface (human) DNA:polymorphism:multiple (human) mRNA, protein:splice variants, alternative forms:exon 3 (human)
RGD
PMID:9269755 PMID:10552962 PMID:10090943
RGD:11250403 , RGD:151665202 , RGD:151665190
NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588
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Cd86
CD86 antigen
severity
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:25179679
RGD:11354969
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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Cpeb1
cytoplasmic polyadenylation element binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062064
NCBI chr 7:80,996,774...81,105,207
Ensembl chr 7:80,996,774...81,105,213
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
protein:increased expression:T cell
RGD
PMID:16094420 PMID:15914560
RGD:11344923 , RGD:11352246
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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Dkc1
dyskeratosis congenita 1, dyskerin
ISO
RGD
PMID:18077792
RGD:11251735
NCBI chr X:74,139,460...74,153,382
Ensembl chr X:74,139,460...74,153,383
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Dnmt3b
DNA methyltransferase 3B
ISO
mRNA:decreased expression: B cell
RGD
PMID:15467427
RGD:9589146
NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650
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Ercc2
excision repair cross-complementing rodent repair deficiency, complementation group 2
severity
ISO
DNA:SNP: :p.K751Q (rs13181) (human)
RGD
PMID:22739018 PMID:19484764
RGD:11252203 , RGD:11252204
NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619
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Farp2
FERM, RhoGEF and pleckstrin domain protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062064
NCBI chr 1:93,439,826...93,549,698
Ensembl chr 1:93,439,801...93,549,698
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Fas
Fas cell surface death receptor
disease_progression
ISO
RGD
PMID:12901972
RGD:11049461
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fbxw7
F-box and WD-40 domain protein 7
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:25741868 PMID:26619011
NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505
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Fcgr4
Fc receptor, IgG, low affinity IV
no_association
ISO
DNA:SNP:exon:p.F158V (rs396991) (human)
RGD
PMID:14563637
RGD:11352260
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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Gnas
GNAS complex locus
disease_progression
ISO
DNA:polymorphism:393T>C (human)
RGD
PMID:17020971
RGD:1601379
NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537
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Hras
Harvey rat sarcoma virus oncogene
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 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918
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Icam1
intercellular adhesion molecule 1
severity
ISO
RGD
PMID:7658704
RGD:11354983
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Ifng
interferon gamma
susceptibility
ISO
DNA:polymorphism: :847A>T(human)
RGD
PMID:19757192
RGD:10755703
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Il10
interleukin 10
disease_progression no_association
ISO
protein:increased expression:serum DNA:SNPs: :multiple DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)
RGD
PMID:22945689 PMID:10638947 PMID:19573080 PMID:19573080
RGD:11041895 , RGD:11049174 , RGD:11049165 , RGD:11049165
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il19
interleukin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr 1:130,860,393...130,873,194
Ensembl chr 1:130,860,393...130,867,852
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:19074885
RGD:11051968
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Il1b
interleukin 1 beta
severity
ISO
DNA:SNP:promoter:-511C>T (human) protein:decreased expression:plasma:
RGD
PMID:18271063 PMID:10870116
RGD:11051967 , RGD:11522755
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:decreased expression:plasma:
RGD
PMID:10870116
RGD:11522755
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il6
interleukin 6
ISO
protein:increased expression:plasma: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18006695 PMID:10870116
RGD:11522755
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Irf4
interferon regulatory factor 4
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18758461 PMID:12393648 PMID:12079517
RGD:11526160 , RGD:11530024
NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959
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Itga4
integrin alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21093051
NCBI chr 2:79,084,767...79,163,458
Ensembl chr 2:79,085,770...79,163,467
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Kras
Kirsten rat sarcoma viral oncogene homolog
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 chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Lef1
lymphoid enhancer binding factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 3:130,903,972...131,018,006
Ensembl chr 3:130,904,120...131,018,005
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Lrrc56
leucine rich repeat containing 56
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 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968
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Mir143
microRNA 143
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17892514
NCBI chr18:61,782,267...61,782,329
Ensembl chr18:61,782,267...61,782,329
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Mir145a
microRNA 145a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17892514
NCBI chr18:61,780,896...61,780,965
Ensembl chr18:61,780,896...61,780,965
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Ms4a1
membrane-spanning 4-domains, subfamily A, member 1
ISO
RGD
PMID:19911856
RGD:2316994
NCBI chr19:11,227,043...11,243,513
Ensembl chr19:11,227,039...11,243,605
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16706930
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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Myd88
myeloid differentiation primary response gene 88
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 chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477
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Nras
neuroblastoma ras oncogene
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 chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230
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P2rx7
purinergic receptor P2X, ligand-gated ion channel, 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11003599
NCBI chr 5:122,781,990...122,830,399
Ensembl chr 5:122,781,974...122,829,495
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Pecam1
platelet/endothelial cell adhesion molecule 1
severity
ISO
protein:increased expression:B cell (human)
RGD
PMID:12673718
RGD:11541127
NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454
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Plcg2
phospholipase C, gamma 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
CTD ClinVar
PMID:24869598 PMID:27542411 PMID:28492532
NCBI chr 8:118,225,014...118,361,881
Ensembl chr 8:118,225,030...118,361,881
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Pmaip1
phorbol-12-myristate-13-acetate-induced protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr18:66,591,675...66,598,629
Ensembl chr18:66,591,604...66,598,636
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Polb
polymerase (DNA directed), beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr 8:23,118,135...23,143,482
Ensembl chr 8:23,118,142...23,143,451
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Ppp2r5c
protein phosphatase 2, regulatory subunit B', gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16038780
NCBI chr12:110,413,532...110,549,509
Ensembl chr12:110,413,554...110,549,496
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Pramex1
PRAME like, X-linked 1
ISO
protein:increased expression:mononuclear cell (human)
RGD
PMID:16620968
RGD:11535021
NCBI chr X:134,513,662...134,528,437
Ensembl chr X:134,513,751...134,528,454
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Prkd2
protein kinase D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18758461
NCBI chr 7:16,576,827...16,604,386
Ensembl chr 7:16,576,827...16,604,389
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16314473
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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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 chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
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Qpct
glutaminyl-peptide cyclotransferase (glutaminyl cyclase)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr17:79,359,335...79,397,807
Ensembl chr17:79,359,335...79,397,807
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Rbl2
RB transcriptional corepressor like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16038780
NCBI chr 8:91,796,685...91,850,472
Ensembl chr 8:91,796,685...91,850,472
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Sf3b1
splicing factor 3b, subunit 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
CTD ClinVar
PMID:22158541 PMID:23634996 PMID:25741868 PMID:26619011
NCBI chr 1:55,024,328...55,066,660
Ensembl chr 1:55,024,328...55,066,640
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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 chr19:5,323,949...5,345,485
Ensembl chr19:5,323,960...5,345,483
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Tert
telomerase reverse transcriptase
disease_progression
ISO
RGD
PMID:17344921
RGD:11038662
NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
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Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16904380
NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612
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Thbd
thrombomodulin
ISO
RGD
PMID:21812019
RGD:5685033
NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108
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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
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf10b
tumor necrosis factor receptor superfamily, member 10b
susceptibility
ISO
DNA:missense mutation:cds:p.E228A (c.683A>C) (human) DNA:SNP: :1322A>G (human)
RGD
PMID:16217763 PMID:15531454
RGD:11038717 , RGD:11038718
NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860
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Tnfrsf11a
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16270354
NCBI chr 1:105,708,443...105,777,172
Ensembl chr 1:105,708,443...105,775,709
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Tnfsf11
tumor necrosis factor (ligand) superfamily, member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16270354
NCBI chr14:78,514,886...78,545,483
Ensembl chr14:78,514,885...78,545,483
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Tnfsf13
tumor necrosis factor (ligand) superfamily, member 13
ISO
protein:increased expression:serum
RGD
PMID:15488762
RGD:1549466
NCBI chr11:69,573,403...69,576,380
Ensembl chr11:69,573,672...69,576,610
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Tnfsf8
tumor necrosis factor (ligand) superfamily, member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584
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Topbp1
topoisomerase (DNA) II binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr 9:103,182,351...103,227,627
Ensembl chr 9:103,182,414...103,227,627
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Trp53
transformation related protein 53
disease_progression
ISO
DNA:deletion: : ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
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: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:16439677 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 PMID:10867151 More...
RGD:11075074
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12446453
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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Xpo1
exportin 1
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:26619011
NCBI chr11:23,205,768...23,248,250
Ensembl chr11:23,206,055...23,248,249
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Xrcc1
X-ray repair complementing defective repair in Chinese hamster cells 1
severity no_association
ISO
DNA:SNP: :p.R399Q (rs25487) (human) DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human)
RGD
PMID:19484764 PMID:19484764
RGD:11252204 , RGD:11252204
NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865
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Abl1
c-abl oncogene 1, non-receptor tyrosine kinase
treatment
ISO
RGD
PMID:21481795
RGD:11038814
NCBI chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239
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Ahr
aryl-hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037
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Akr1c18
aldo-keto reductase family 1, member C18
treatment
ISO
RGD
PMID:26116659
RGD:11541128
NCBI chr13:4,182,614...4,200,645
Ensembl chr13:4,182,614...4,200,653
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Atf7ip
activating transcription factor 7 interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413735
NCBI chr 6:136,495,787...136,587,848
Ensembl chr 6:136,483,165...136,587,860
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Bcl2l1
BCL2-like 1
severity
IMP
RGD
PMID:18216295
RGD:11531108
NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648
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Bcr
BCR activator of RhoGEF and GTPase
IMP
BCR/ABL fusion
RGD
PMID:9310467
RGD:41404633
NCBI chr10:74,896,384...75,020,753
Ensembl chr10:74,896,424...75,020,753
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Brd2
bromodomain containing 2
ISO
RGD
PMID:14563639
RGD:9586345
NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608
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Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24154679
NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581
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Ccnd1
cyclin D1
IEP
mRNA:increased expression:B cell (mouse)
RGD
PMID:23169640
RGD:11353783
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
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Cdkn2a
cyclin dependent kinase inhibitor 2A
treatment susceptibility
IMP ISO
DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human)
RGD
PMID:16618932 PMID:26104880 PMID:21622646
RGD:11251751 , RGD:11057958 , RGD:11251772
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Crlf2
cytokine receptor-like factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24141364
NCBI chr 5:109,702,575...109,707,301
Ensembl chr 5:109,702,575...109,706,859
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Cyp3a13
cytochrome P450, family 3, subfamily a, polypeptide 13
treatment
ISO
DNA:polymorphisms: :
RGD
PMID:21225912
RGD:11353807
NCBI chr 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881
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Duxbl1
double homeobox B-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27019113
NCBI chr14:25,979,011...25,990,590
Ensembl chr14:25,979,001...25,990,512
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Etv6
ets variant 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15217836 PMID:24413735 PMID:25807284
NCBI chr 6:134,012,663...134,247,121
Ensembl chr 6:134,012,663...134,247,121
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F13a1
coagulation factor XIII, A1 subunit
ISO
protein:increased expression:B lymphoblast:
RGD
PMID:16894461
RGD:11041855
NCBI chr13:37,051,150...37,234,220
Ensembl chr13:37,051,152...37,234,220
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F3
coagulation factor III
treatment
ISO
RGD
PMID:19874310
RGD:11341694
NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697
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Fh1
fumarate hydratase 1
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:175,428,944...175,453,201
Ensembl chr 1:175,427,940...175,453,201
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Flt3
FMS-like tyrosine kinase 3
ISO
mRNA,protein:increased expression:bone marrow:
RGD
PMID:8562934
RGD:11049466
NCBI chr 5:147,267,551...147,337,299
Ensembl chr 5:147,267,551...147,337,299
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24141364
NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025
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Ikzf1
IKAROS family zinc finger 1
disease_progression
ISO
DNA:mutations: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24141364 PMID:22699455
RGD:11075072
NCBI chr11:11,634,970...11,722,930
Ensembl chr11:11,634,980...11,722,926
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Il5
interleukin 5
IMP
RGD
PMID:15368290
RGD:7241068
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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Irf4
interferon regulatory factor 4
IMP
RGD
PMID:25006123 PMID:20585039 PMID:21818355
RGD:11526159 , RGD:11530030 , RGD:11530020
NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959
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Irf8
interferon regulatory factor 8
IMP
RGD
PMID:20585039
RGD:11530030
NCBI chr 8:121,463,097...121,483,433
Ensembl chr 8:121,463,097...121,483,433
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Isx
intestine specific homeobox
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr 8:75,599,326...75,620,134
Ensembl chr 8:75,599,801...75,620,134
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LOC107983946
Wt1 promoter region
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 2:104,956,361...104,957,127
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Mga
MAX gene associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413735
NCBI chr 2:119,702,974...119,800,610
Ensembl chr 2:119,727,709...119,800,062
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Myb
myeloblastosis oncogene
disease_progression
ISO
mRNA:splice variants:cds:
RGD
PMID:21853052
RGD:11532669
NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883
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Myc
myelocytomatosis oncogene
IMP
RGD
PMID:22120021
RGD:7207416
NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
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Pax5
paired box 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24013638 PMID:30643249
NCBI chr 4:44,524,748...44,710,694
Ensembl chr 4:44,524,757...44,710,487
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Pdgfra
platelet derived growth factor receptor, alpha polypeptide
treatment
IDA
RGD
PMID:22447844
RGD:11075097
NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
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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 chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Runx1
runt related transcription factor 1
onset
ISO
DNA:amplification CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15217836 PMID:24413735 PMID:21822204
RGD:6482828
NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19796711
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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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 chr11:100,750,177...100,775,995
Ensembl chr11:100,750,177...100,775,995
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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 chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516
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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 chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243
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Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562
NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481
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Tdo2
tryptophan 2,3-dioxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr 3:81,865,719...81,883,035
Ensembl chr 3:81,864,397...81,883,509
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Tfpi
tissue factor pathway inhibitor
treatment
ISO
RGD
PMID:19874310
RGD:11341694
NCBI chr 2:84,263,199...84,307,119
Ensembl chr 2:84,263,199...84,307,119
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Tnfsf13
tumor necrosis factor (ligand) superfamily, member 13
ISO
RGD
PMID:15488762
RGD:1549466
NCBI chr11:69,573,403...69,576,380
Ensembl chr11:69,573,672...69,576,610
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Tnfsf8
tumor necrosis factor (ligand) superfamily, member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584
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Trp53
transformation related protein 53
disease_progression
ISO
DNA:mutations: :
RGD
PMID:22699455
RGD:11075072
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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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 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961
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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 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961
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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 chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320
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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 chr14:34,133,018...34,225,335
Ensembl chr14:34,132,691...34,225,298
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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 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208
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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 chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Recql4
RecQ protein-like 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 chr15:76,587,753...76,594,820
Ensembl chr15:76,587,753...76,594,748
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Cbl
Casitas B-lineage lymphoma
ISO
ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346
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Sdha
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
ISO
ClinVar Annotator: match by term: B-lymphoblastic leukemia/lymphoma with hypodiploidy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:74,470,374...74,498,359
Ensembl chr13:74,470,373...74,498,399
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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 8:106,351,135...106,409,554
Ensembl chr 8:106,363,200...106,409,554
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Ak3
adenylate kinase 3
ISO
protein:increased expression:peripheral blood mononuclear cell
RGD
PMID:27078856
RGD:13842476
NCBI chr19:28,968,715...29,026,122
Ensembl chr19:28,998,233...29,025,361
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Arhgap44
Rho GTPase activating protein 44
ISO
mRNA:increased expression: (human)
RGD
PMID:36595475
RGD:401901275
NCBI chr11:64,892,865...65,053,779
Ensembl chr11:64,892,865...65,053,787
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Braf
Braf transforming gene
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:12068308 PMID:12198537 PMID:12960123 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15035987 PMID:16187918 PMID:17096326 PMID:17119447 PMID:17311103 PMID:18368129 PMID:18794803 PMID:19206169 PMID:19383316 PMID:19537845 PMID:19913317 PMID:20350999 PMID:20619739 PMID:21129611 PMID:21639808 PMID:22048237 PMID:22310681 PMID:22495831 PMID:22663011 PMID:22972589 PMID:23352452 PMID:24033266 PMID:24451042 PMID:25157968 PMID:26619011 PMID:28492532 PMID:28832562 PMID:29453417 PMID:29595366 More...
NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
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Cd40lg
CD40 ligand
ISO
protein:increased expression:serum (human)
RGD
PMID:9450802
RGD:11522717
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cd79b
CD79B antigen
ISO
protein:decreased expression:peripheral blood cells (human) mRNA, protein:splice variants, alternative forms:exon 3 (human) protein:decreased expression:blood, B cell (human) protein:decreased expression:blood cells (human)
RGD
PMID:10516749 PMID:10090943 PMID:10329919 PMID:10753858
RGD:151665125 , RGD:151665190 , RGD:11531139 , RGD:151665152
NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588
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Cd86
CD86 antigen
ISO
DNA:hypermethylation (human)
RGD
PMID:23154584
RGD:11354975
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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Fbxw7
F-box and WD-40 domain protein 7
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:25741868 PMID:26619011
NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505
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Hras
Harvey rat sarcoma virus oncogene
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
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 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918
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Il5
interleukin 5
ISO
protein:increased expression:serum
RGD
PMID:21911837
RGD:11354912
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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Irf4
interferon regulatory factor 4
disease_progression
IMP ISO
DNA:SNPs:3' utr:multiple DNA:SNP: :rs872071 (human) DNA:missense mutation:exon:p.L116R (human)
RGD
PMID:23897826 PMID:20123861 PMID:20731705 PMID:23926303 PMID:20090783 PMID:21791429 More...
RGD:11526156 , RGD:11530031 , RGD:11530029 , RGD:11530026 , RGD:11530021 , RGD:11526158
NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959
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Kras
Kirsten rat sarcoma viral oncogene homolog
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
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 chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
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 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968
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Mir155
microRNA 155
ISO
miRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:29658610
RGD:21081544
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
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Mir21a
microRNA 21a
ISO
miRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:29658610
RGD:21081544
NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
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Myc
myelocytomatosis oncogene
disease_progression
ISO
RGD
PMID:20956327
RGD:11340590
NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
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Myd88
myeloid differentiation primary response gene 88
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477
G
Nras
neuroblastoma ras oncogene
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
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 chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:26254371
RGD:11073982
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:12717436 PMID:14644997 PMID:15385933 PMID:15710330 PMID:15928039 PMID:16358218 PMID:17972951 PMID:19047918 PMID:19179468 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:27069254 PMID:28098151 PMID:30868567 More...
NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
susceptibility
ISO
DNA:snp:cds:p.R620W (rs2476601) (human) protein:increased expression:B cell (human)
RGD
PMID:23287625 PMID:22569400
RGD:11533998 , RGD:11535006
NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563
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Sf3b1
splicing factor 3b, subunit 1
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:26619011
NCBI chr 1:55,024,328...55,066,660
Ensembl chr 1:55,024,328...55,066,640
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Sf3b2
splicing factor 3b, subunit 2
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:26619011
NCBI chr19:5,323,949...5,345,485
Ensembl chr19:5,323,960...5,345,483
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Stat3
signal transducer and activator of transcription 3
ISO
protein:increased phosphorylation:peripheral blood mononuclear cell
RGD
PMID:29658610
RGD:21081544
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Trp53
transformation related protein 53
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:253702 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1683921 PMID:1978757 PMID:2046748 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:8825920 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9704930 PMID:9825943 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10589545 PMID:10761705 PMID:10797439 PMID:10864200 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: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: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: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: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:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30816478 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31296311 PMID:31300551 PMID:31533767 PMID:31748977 PMID:31775759 PMID:31881331 PMID:31882575 PMID:32000721 PMID:32164171 PMID:32187361 PMID:32295079 PMID:32371905 PMID:32817165 PMID:32906206 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...
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Xpo1
exportin 1
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:26619011
NCBI chr11:23,205,768...23,248,250
Ensembl chr11:23,206,055...23,248,249
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Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:8843970
RGD:11353776
NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542
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Il1rn
interleukin 1 receptor antagonist
treatment
ISO
RGD
PMID:9613675
RGD:11522762
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Map2k1
mitogen-activated protein kinase kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24241536
NCBI chr 9:64,093,066...64,160,887
Ensembl chr 9:64,093,052...64,160,913
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Tnfsf8
tumor necrosis factor (ligand) superfamily, member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584
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Abcg2
ATP binding cassette subfamily G member 2 (Junior blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20019844
NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661
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Akr1c18
aldo-keto reductase family 1, member C18
treatment
ISO
RGD
PMID:26116659
RGD:11541128
NCBI chr13:4,182,614...4,200,645
Ensembl chr13:4,182,614...4,200,653
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Bax
BCL2-associated X protein
ISO
ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia
ClinVar
PMID:9531611
NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322
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Bcl10
B cell leukemia/lymphoma 10
ISO
ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia
ClinVar
PMID:9989495
NCBI chr 3:145,630,017...145,640,121
Ensembl chr 3:145,628,559...145,640,111
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Bcl11b
B cell leukemia/lymphoma 11B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20972433
NCBI chr12:107,876,662...107,970,404
Ensembl chr12:107,876,662...107,969,861
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Bcl2
B cell leukemia/lymphoma 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23471820
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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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
NCBI chr 5:140,858,109...140,986,398
Ensembl chr 5:140,858,745...140,986,337
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Ccnd3
cyclin D3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chr17:47,815,976...47,910,614
Ensembl chr17:47,815,976...47,910,616
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Cdkn2a
cyclin dependent kinase inhibitor 2A
disease_progression
IMP ISO IDA
DNA:deletion, missense, nonsense mutations:cds:
RGD
PMID:16407836 PMID:8637233 PMID:19759355 PMID:17507663 PMID:23178376
RGD:11251741 , RGD:11251776 , RGD:11251774 , RGD:11251765 , RGD:11251744
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Cnot3
CCR4-NOT transcription complex, subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23263491
NCBI chr 7:3,646,717...3,664,108
Ensembl chr 7:3,648,267...3,664,108
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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 chr 4:125,917,241...125,938,233
Ensembl chr 4:125,918,343...125,938,233
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Ctcf
CCCTC-binding factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chr 8:106,351,135...106,409,554
Ensembl chr 8:106,363,200...106,409,554
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Cxcr4
C-X-C motif chemokine receptor 4
treatment
ISO
RGD
PMID:26931577
RGD:11352292
NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030
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Dnmt3a
DNA methyltransferase 3A
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)
ClinVar RGD
PMID:23341344 PMID:26072070
RGD:9589073 , RGD:11041131
NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
IMP
RGD
PMID:22431509
RGD:10755340
NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275
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Fbxw7
F-box and WD-40 domain protein 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562 PMID:24394663
NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505
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Hmga1
high mobility group AT-hook 1
IAGP
MouseDO
NCBI chr17:27,774,798...27,782,649
Ensembl chr17:27,775,471...27,782,648
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Il7r
interleukin 7 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21892159
NCBI chr15:9,505,880...9,530,270
Ensembl chr15:9,505,874...9,530,262
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Jak1
Janus kinase 1
ISO
DNA:missense mutation: :c.1972G>T (p.V658F) (human)
RGD
PMID:18559588
RGD:18936996
NCBI chr 4:101,009,171...101,122,493
Ensembl chr 4:101,009,564...101,122,479
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Jak3
Janus kinase 3
ISO
RGD
PMID:25193870
RGD:11531122
NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219
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Kras
Kirsten rat sarcoma viral oncogene homolog
IMP
DNA:missense mutation: :p.G12D (mouse)
RGD
PMID:23673656
RGD:11060136
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Lmo1
LIM domain only 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2034676 PMID:3259177 PMID:19246562
NCBI chr 7:108,737,776...108,774,356
Ensembl chr 7:108,737,779...108,774,414
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Lmo2
LIM domain only 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2034676 PMID:19246562 PMID:24394663
NCBI chr 2:103,788,309...103,812,223
Ensembl chr 2:103,788,331...103,812,223
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Lyl1
lymphoblastomic leukemia 1
ISO
OMIM
NCBI chr 8:85,428,051...85,432,876
Ensembl chr 8:85,428,078...85,431,569
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Mtor
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
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Myb
myeloblastosis oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17435759 PMID:28671688
NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883
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Mycn
v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915
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Nbn
nibrin
IAGP
MouseDO
NCBI chr 4:15,955,388...15,992,589
Ensembl chr 4:15,957,925...15,992,589
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Notch1
notch 1
ISO
ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:19246562 PMID:19318552 PMID:21498710 PMID:24394663 PMID:25585350 PMID:28671688 More...
NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675
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Nup98
nucleoporin 98
ISO
DNA:translocation:cds: (human)
RGD
PMID:10477737
RGD:9693698
NCBI chr 7:101,768,607...101,859,359
Ensembl chr 7:101,768,605...101,859,383
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Pdgfra
platelet derived growth factor receptor, alpha polypeptide
ISO
RGD
PMID:24486648
RGD:11075087
NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
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Phf6
PHD finger protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20228800
NCBI chr X:52,001,091...52,045,838
Ensembl chr X:52,001,143...52,045,820
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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 chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
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Ptpn2
protein tyrosine phosphatase, non-receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20473312
NCBI chr18:67,798,571...67,857,697
Ensembl chr18:67,798,581...67,857,665
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Rpl10
ribosomal protein L10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23263491
NCBI chr X:73,314,463...73,316,741
Ensembl chr X:73,314,418...73,316,741
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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 chr 4:135,776,665...135,780,704
Ensembl chr 4:135,755,576...135,780,739
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Rpl5
ribosomal protein L5
ISO
DNA:snps, insertion, deletion:cds:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23263491 PMID:23263491
RGD:11535135
NCBI chr 5:108,048,388...108,056,871
Ensembl chr 5:108,048,368...108,056,871
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Runx1
runt related transcription factor 1
disease_progression
IMP ISO
RGD
PMID:16051740 PMID:21828118
RGD:11251682 , RGD:11251708
NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526
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Spi1
Spi-1 proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671687
NCBI chr 2:90,912,750...90,946,104
Ensembl chr 2:90,912,735...90,946,101
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Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23471820
NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19796711
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chr11:100,671,557...100,741,407
Ensembl chr11:100,671,557...100,741,550
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Tal1
T cell acute lymphocytic leukemia 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562 PMID:24394663
NCBI chr 4:114,913,623...114,928,952
Ensembl chr 4:114,913,623...114,928,952
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Tcl1
T cell lymphoma breakpoint 1
ISO
mRNA:increased expression:peripheral blood lymphocyte (human)
RGD
PMID:10077617
RGD:1599360
NCBI chr12:105,183,012...105,188,996
Ensembl chr12:105,183,009...105,189,052
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Tlx1
T cell leukemia, homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20972433
NCBI chr19:45,138,531...45,145,382
Ensembl chr19:45,139,119...45,145,382
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Tyk2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23471820
NCBI chr 9:21,015,364...21,042,689
Ensembl chr 9:21,015,364...21,042,539
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Zfp36l2
zinc finger protein 36, C3H type-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chr17:84,491,352...84,495,375
Ensembl chr17:84,491,359...84,495,375
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Cntn2
contactin 2
IAGP
MouseDO
NCBI chr 1:132,437,163...132,470,989
Ensembl chr 1:132,437,165...132,470,994
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Zeb2
zinc finger E-box binding homeobox 2
IAGP
MouseDO
NCBI chr 2:44,873,523...45,007,378
Ensembl chr 2:44,873,644...45,007,407
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916 PMID:29200404
NCBI chr11:100,671,557...100,741,407
Ensembl chr11:100,671,557...100,741,550
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4930550C14Rik
RIKEN cDNA 4930550C14 gene
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 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702
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Atm
ataxia telangiectasia mutated
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 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Jak3
Janus kinase 3
ISO
DNA:missense mutations:exon:pM511I, p.R657Q (human)
RGD
PMID:24446122
RGD:11531125
NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chr11:100,671,557...100,741,407
Ensembl chr11:100,671,557...100,741,550
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Tnfsf8
tumor necrosis factor (ligand) superfamily, member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584
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Jak1
Janus kinase 1
ISO
ClinVar Annotator: match by term: Leukemia, acute, X-linked
ClinVar
PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:21436584 PMID:21680795 More...
NCBI chr 4:101,009,171...101,122,493
Ensembl chr 4:101,009,564...101,122,479
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