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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:chronic lymphocytic leukemia
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Accession:DOID:1040 term browser browse the term
Definition:A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood. (DO)
Synonyms:exact_synonym: B-cell chronic lymphocytic leukaemia;   CLL;   chronic lymphatic leukaemia;   chronic lymphatic leukemia;   chronic lymphocytic leukaemia;   chronic lymphoid leukemia;   lymphoplasmacytic leukaemia;   lymphoplasmacytic leukemia
 related_synonym: B-cell chronic lymphoid leukemia
 xref: EFO:0000095;   EFO:0000169;   GARD:6104;   ICD10CM:C91.10;   ICD9CM:204.1;   NCI:C3163;   ORDO:67038
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
chronic lymphocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:12068308 PMID:12198537 PMID:12960123 PMID:14612909 PMID:14679157 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 More... NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G 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 		JBrowse link
G 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 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 		JBrowse link
G 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 More... NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G 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 More... NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 More... NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477 		JBrowse link
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 More... NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230 		JBrowse link
G 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 		JBrowse link
G 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 More... NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 More... NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G 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 		JBrowse link
B-Cell Chronic Lymphocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 treatment
severity
no_association		 ISO DNA:snp:promoter:g.-938C>A (human)
protein:increased expression:B cell (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21750559 PMID:23770605 PMID:17296974 PMID:16960146 PMID:17959858 More... RGD:11522735, RGD:11526104, RGD:11526105, RGD:11526110 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G 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 		JBrowse link
G 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 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Cd79b CD79B antigen ISO protein:decreased expression:B lymphocyte, cell surface (human)
mRNA, protein:splice variants, alternative forms:exon 3 (human)
DNA:polymorphism:multiple (human)		 RGD PMID:9269755 PMID:10090943 PMID:10552962 RGD:11250403, RGD:151665190, RGD:151665202 NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO protein:increased expression:T cell RGD PMID:16094420 PMID:15914560 RGD:11344923, RGD:11352246 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 More... NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Il10 interleukin 10 disease_progression
no_association		 ISO DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)
DNA:SNPs: :multiple
protein:increased expression:serum		 RGD PMID:22945689 PMID:19573080 PMID:19573080 PMID:10638947 RGD:11041895, RGD:11049165, RGD:11049165, RGD:11049174 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Il1b interleukin 1 beta severity ISO DNA:SNP:promoter:-511C>T (human)
protein:decreased expression:plasma:		 RGD PMID:18271063 PMID:10870116 RGD:11051967, RGD:11522755 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18758461 PMID:12393648 PMID:12079517 RGD:11526160, RGD:11530024 NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959 		JBrowse link
G 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 		JBrowse link
G 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 More... NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G 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 		JBrowse link
G 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 More... NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 More... NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477 		JBrowse link
G 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 More... NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 More... NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Tnf tumor necrosis factor disease_progression ISO protein:increased expression:bone marrow, blood, lymphocyte RGD PMID:12010662 PMID:22945689 RGD:10449463, RGD:11041895 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Trp53 transformation related protein 53 disease_progression ISO DNA:deletion: :
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic		 CTD
ClinVar
RGD		 PMID:253702 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1679237 More... RGD:11075074 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
hairy cell leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
T-cell large granular lymphocyte leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
T-cell prolymphocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702 		JBrowse link
G 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 More... NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16178
    disease of cellular proliferation 7617
      Neoplasms by Histologic Type 5378
        lymphoma 555
          chronic lymphocytic leukemia 89
            B-Cell Chronic Lymphocytic Leukemia 75
            Richter's syndrome 0
            T-cell large granular lymphocyte leukemia 1
            chronic lymphocytic leukemia/small lymphocytic lymphoma + 0
            hairy cell leukemia + 4
            prolymphocytic leukemia + 5
Path 2
Term Annotations click to browse term
  disease 16178
    disease of anatomical entity 15792
      Hemic and Lymphatic Diseases 3975
        hematopoietic system disease 3468
          Hematologic Neoplasms 1061
            hematologic cancer 1061
              lymphoma 555
                lymphoid leukemia 290
                  chronic lymphocytic leukemia 89
                    B-Cell Chronic Lymphocytic Leukemia 75
                    Richter's syndrome 0
                    T-cell large granular lymphocyte leukemia 1
                    chronic lymphocytic leukemia/small lymphocytic lymphoma + 0
                    hairy cell leukemia + 4
                    prolymphocytic leukemia + 5
paths to the root