RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: B-Cell Chronic Lymphocytic Leukemia
Accession: DOID:9002227
browse the term
Definition: A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease.
Synonyms: exact_synonym: BCLL; CLL Lymphoplasmacytoid Lymphoma; CLL Lymphoplasmacytoid Lymphomas; Chronic B-Lymphocytic Leukemia; Chronic Lymphoblastic Leukemia; Chronic Lymphoblastic Leukemias; DBM; Diffuse Well Differentiated Lymphocytic Lymphoma; Disrupted In B-Cell Malignancy; Lymphocytic Lymphoma; Lymphocytic Lymphomas; Lymphoma, Small Lymphocytic, Plasmacytoid; Small Cell Lymphoma; Small-Cell Lymphomas; chronic B-cell leukemia; chronic B-cell leukemias; chronic B-lymphocytic leukemias; low-grade B-cell malignancy; small lymphocytic lymphoma; small lymphocytic lymphomas; well-differentiated lymphocytic lymphoma; well-differentiated lymphocytic lymphomas
related_synonym: CLLS1; CLLS2; CLLS3; CLLS4; CLLS5; chronic lymphocytic leukemia, susceptibility to, 1; chronic lymphocytic leukemia, susceptibility to, 2; chronic lymphocytic leukemia, susceptibility to, 3; chronic lymphocytic leukemia, susceptibility to, 4; chronic lymphocytic leukemia, susceptibility to, 5
primary_id: MESH:D015451
alt_id: MIM:109543 ; MIM:151400 ; MIM:609630 ; MIM:612557 ; MIM:612558 ; MIM:612559
xref: NCI:C7540
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ABCG2
ATP binding cassette subfamily G member 2
susceptibility
ISO
DNA:SNPs,haplotype: :rs1481012,rs2231142(human)
RGD
PMID:21918980
RGD:11080977
NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674
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ACOXL
acyl-CoA oxidase like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr17:35,269,824...35,617,068
Ensembl chr17:35,269,501...35,617,335
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AICDA
activation induced cytidine deaminase
disease_progression
ISO
RGD
PMID:21133730
RGD:11039455
NCBI chr27:37,064,107...37,073,791
Ensembl chr27:37,064,080...37,073,789
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APOE
apolipoprotein E
disease_progression
ISO
RGD
PMID:18784741
RGD:11040549
NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
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ATM
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17968022
NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
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BCL11A
BCL11 transcription factor A
ISO
DNA:translocation:5' utr: (human)
RGD
PMID:11719382
RGD:11100004
NCBI chr10:60,589,298...60,691,997
Ensembl chr10:60,589,708...60,689,073
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BCL2
BCL2 apoptosis regulator
severity treatment no_association
ISO
protein:increased expression:B cell (human) DNA:snp:promoter:g.-938C>A (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16960146 PMID:17296974 PMID:17959858 PMID:20001236 PMID:21750559 PMID:23770605 More...
RGD:11522735 RGD:11526104 RGD:11526105 RGD:11526110
NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
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BMF
Bcl2 modifying factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr30:7,301,000...7,321,949
Ensembl chr30:7,274,174...7,322,034
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:12068308 PMID:12198537 PMID:12692057 PMID:12960123 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15035987 PMID:16187918 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17704260 PMID:18039235 PMID:18060073 PMID:18368129 PMID:18413255 PMID:18794803 PMID:19206169 PMID:19376813 PMID:19383316 PMID:19537845 PMID:19913317 PMID:20350999 PMID:20619739 PMID:21062266 PMID:21129611 PMID:21639808 PMID:22048237 PMID:22310681 PMID:22495831 PMID:22663011 PMID:22972589 PMID:23352452 PMID:23680146 PMID:24033266 PMID:24451042 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:28832562 PMID:29453417 PMID:29595366 More...
NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
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BTK
Bruton tyrosine kinase
treatment
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
RGD ClinVar
PMID:23045577 PMID:24869598 PMID:25741868 PMID:28492532
RGD:11040699
NCBI chr X:75,270,952...75,302,663
Ensembl chr X:75,270,979...75,302,562
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CBL
Cbl proto-oncogene
severity
ISO
mRNA,protein:increased expression:CD5+ B cell: DNA:hypophosphorylation:CD5+ B cell:
RGD
PMID:17804547
RGD:11038803
NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956
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CCDC50
coiled-coil domain containing 50
ISO
RGD
PMID:19641524
RGD:9685139
NCBI chr34:23,168,594...23,243,221
Ensembl chr34:23,168,525...23,258,497
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CD40
CD40 molecule
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
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CD40LG
CD40 ligand
ISO
mouse-human chimeric gene in human
RGD
PMID:20882050
RGD:11352235
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
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CD5
CD5 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr18:55,216,415...55,235,567
Ensembl chr18:55,217,276...55,235,405
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CD79B
CD79b molecule
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:10090943 PMID:10552962
RGD:11250403 RGD:151665190 RGD:151665202
NCBI chr 9:11,834,230...11,844,946
Ensembl chr 9:11,842,190...11,844,843
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CD86
CD86 molecule
severity
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:25179679
RGD:11354969
NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
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CPEB1
cytoplasmic polyadenylation element binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062064
NCBI chr 3:54,405,140...54,499,614
Ensembl chr 3:54,405,717...54,500,221
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CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
protein:increased expression:T cell
RGD
PMID:15914560 PMID:16094420
RGD:11344923 RGD:11352246
NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
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DKC1
dyskerin pseudouridine synthase 1
ISO
RGD
PMID:18077792
RGD:11251735
NCBI chr X:122,838,787...122,850,870
Ensembl chr X:122,838,645...122,850,884
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DNMT3B
DNA methyltransferase 3 beta
ISO
mRNA:decreased expression: B cell
RGD
PMID:15467427
RGD:9589146
NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
severity
ISO
DNA:SNP: :p.K751Q (rs13181) (human)
RGD
PMID:19484764 PMID:22739018
RGD:11252203 RGD:11252204
NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
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FARP2
FERM, ARH/RhoGEF and pleckstrin domain protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062064
NCBI chr25:51,331,876...51,425,754
Ensembl chr25:51,332,409...51,425,449
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FAS
Fas cell surface death receptor
disease_progression
ISO
RGD
PMID:12901972
RGD:11049461
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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FBXW7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:25741868 PMID:26619011
NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195
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GNAS
GNAS complex locus
disease_progression
ISO
DNA:polymorphism:393T>C (human)
RGD
PMID:17020971
RGD:1601379
NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657
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HRAS
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
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ICAM1
intercellular adhesion molecule 1
severity
ISO
RGD
PMID:7658704
RGD:11354983
NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
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IFNG
interferon gamma
susceptibility
ISO
DNA:polymorphism: :847A>T(human)
RGD
PMID:19757192
RGD:10755703
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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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:10638947 PMID:19573080 PMID:22945689
RGD:11041895 RGD:11049165 RGD:11049174
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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IL19
interleukin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr 7:6,000,994...6,006,959
Ensembl chr 7:6,000,907...6,006,870
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IL1A
interleukin 1 alpha
ISO
RGD
PMID:19074885
RGD:11051968
NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
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IL1B
interleukin 1 beta
severity
ISO
DNA:SNP:promoter:-511C>T (human) protein:decreased expression:plasma:
RGD
PMID:10870116 PMID:18271063
RGD:11051967 RGD:11522755
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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IL1RN
interleukin 1 receptor antagonist
ISO
protein:decreased expression:plasma:
RGD
PMID:10870116
RGD:11522755
NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
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IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:plasma:
CTD RGD
PMID:10870116 PMID:18006695
RGD:11522755
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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IRF4
interferon regulatory factor 4
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12079517 PMID:12393648 PMID:18758461
RGD:11526160 RGD:11530024
NCBI chr35:760,367...782,314
Ensembl chr35:767,011...781,339
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ITGA4
integrin subunit alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21093051
NCBI chr36:24,670,464...24,686,719
Ensembl chr36:24,653,408...24,729,057
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KRAS
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:18316791 PMID:18794081 PMID:19075190 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:22407852 PMID:22722830 PMID:23325582 PMID:25157968 PMID:26619011 More...
NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
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LEF1
lymphoid enhancer binding factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr32:28,516,002...28,633,759
Ensembl chr32:28,517,108...28,634,019
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LOC100683403
NKG2-A/NKG2-B type II integral membrane protein-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr27:35,307,892...35,374,397
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LOC478984
low affinity immunoglobulin gamma Fc region receptor III
no_association
ISO
DNA:SNP:exon:p.F158V (rs396991) (human)
RGD
PMID:14563637
RGD:11352260
NCBI chr38:21,054,870...21,060,948
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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 chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220
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MIR143
microRNA mir-143
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17892514
NCBI chr 4:59,534,535...59,534,589
Ensembl chr 4:59,534,535...59,534,594
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MIR145
microRNA mir-145
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17892514
NCBI chr 4:59,533,128...59,533,210
Ensembl chr 4:59,533,128...59,533,210
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MS4A1
membrane spanning 4-domains A1
ISO
RGD
PMID:19911856
RGD:2316994
NCBI chr21:50,722,142...50,734,934
Ensembl chr21:50,722,041...50,733,704
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MTHFR
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16706930
NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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MYD88
MYD88 innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chr23:7,901,578...7,905,274
Ensembl chr23:7,901,250...7,904,534
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NRAS
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
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P2RX7
purinergic receptor P2X 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11003599
NCBI chr26:7,928,863...7,983,956
Ensembl chr26:7,940,985...7,983,740
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PECAM1
platelet and endothelial cell adhesion molecule 1
severity
ISO
protein:increased expression:B cell (human)
RGD
PMID:12673718
RGD:11541127
NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778
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PLCG2
phospholipase C gamma 2
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar
PMID:24869598 PMID:28492532
NCBI chr 5:70,054,683...70,233,459
Ensembl chr 5:70,059,255...70,207,049
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PMAIP1
phorbol-12-myristate-13-acetate-induced protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 1:16,469,793...16,472,910
Ensembl chr 1:16,469,793...16,472,910
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POLB
DNA polymerase beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr16:23,306,359...23,335,352
Ensembl chr16:23,306,367...23,335,322
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PPP2R5C
protein phosphatase 2 regulatory subunit B'gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16038780
NCBI chr 8:69,846,311...69,969,409
Ensembl chr 8:69,846,446...69,967,578
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PRAME
PRAME nuclear receptor transcriptional regulator
ISO
protein:increased expression:mononuclear cell (human)
RGD
PMID:16620968
RGD:11535021
NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112
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PRKD2
protein kinase D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18758461
NCBI chr 1:109,206,400...109,241,529
Ensembl chr 1:109,207,067...109,330,007
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16314473
NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
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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 chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
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QPCT
glutaminyl-peptide cyclotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr17:29,700,422...29,741,652
Ensembl chr17:29,716,378...29,741,221
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RBL2
RB transcriptional corepressor like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16038780
NCBI chr 2:62,263,974...62,315,371
Ensembl chr 2:62,265,293...62,315,425
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SF3B1
splicing factor 3b subunit 1
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:23634996 PMID:25741868 PMID:26619011
NCBI chr37:6,922,150...6,962,474
Ensembl chr37:6,924,047...6,962,896
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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 chr18:51,197,924...51,212,397
Ensembl chr18:51,197,939...51,212,354
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SP140
SP140 nuclear body protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18758461
NCBI chr25:42,459,013...42,527,141
Ensembl chr25:42,459,084...42,527,093
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TERT
telomerase reverse transcriptase
disease_progression
ISO
RGD
PMID:17344921
RGD:11038662
NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
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TFRC
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16904380
NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242
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THBD
thrombomodulin
ISO
RGD
PMID:21812019
RGD:5685033
NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649
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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 chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
G
TNFRSF11A
TNF receptor superfamily member 11a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16270354
NCBI chr 1:14,504,595...14,555,956
Ensembl chr 1:14,503,033...14,556,041
G
TNFSF11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16270354
NCBI chr22:8,226,931...8,257,926
Ensembl chr22:8,227,555...8,258,645
G
TNFSF13
TNF superfamily member 13
ISO
protein:increased expression:serum
RGD
PMID:15488762
RGD:1549466
NCBI chr 5:32,482,723...32,484,790
Ensembl chr 5:32,482,723...32,484,789
G
TNFSF8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355
G
TOPBP1
DNA topoisomerase II binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr23:30,517,172...30,578,664
Ensembl chr23:30,516,125...30,578,108
G
TP53
tumor protein p53
disease_progression
ISO
DNA:deletion: : ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
RGD ClinVar
PMID:253702 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1679237 PMID:1683921 PMID:1978757 PMID:2046748 PMID:2531845 PMID:2554494 PMID:7478555 PMID:7651740 PMID:7732013 PMID:7737263 PMID:7791795 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8276238 PMID:8308926 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8649776 PMID:8718514 PMID:8825920 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9704930 PMID:9825943 PMID:9839505 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10589545 PMID:10713666 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10867151 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12672316 PMID:12700230 PMID:12726864 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15221755 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17170001 PMID:17308077 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17881637 PMID:18307025 PMID:18511570 PMID:18685109 PMID:18937320 PMID:19101993 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20878954 PMID:21056685 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21118481 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22198284 PMID:22265402 PMID:22484423 PMID:22713868 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:23028800 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23263379 PMID:23484829 PMID:23538418 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24744791 PMID:24810334 PMID:25157968 PMID:25256166 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25404506 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25765855 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27050224 PMID:27179933 PMID:27276561 PMID:27276934 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27493922 PMID:27501770 PMID:27523101 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28160093 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28772286 PMID:28861920 PMID:28873162 PMID:29025599 PMID:29070607 PMID:29300620 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29958926 PMID:29979965 PMID:30076369 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30709875 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31168460 PMID:31296311 PMID:31300551 PMID:31494577 PMID:31533767 PMID:31748977 PMID:31775759 PMID:31881331 PMID:31882575 PMID:32000721 PMID:32126783 PMID:32164171 PMID:32179180 PMID:32187361 PMID:32295079 PMID:32371905 PMID:32817165 PMID:32906206 PMID:32959997 PMID:33245408 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33633026 PMID:33674644 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34793666 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35820297 PMID:36168441 PMID:36988593 More...
RGD:11075074
NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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VDR
vitamin D receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12446453
NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
G
XPO1
exportin 1
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:26619011
NCBI chr10:61,541,647...61,588,397
Ensembl chr10:61,542,211...61,585,054
G
XRCC1
X-ray repair cross complementing 1
no_association severity
ISO
DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human) DNA:SNP: :p.R399Q (rs25487) (human)
RGD
PMID:19484764
RGD:11252204
NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all