Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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-lymphoblastic leukemia/lymphoma
go back to main search page
Accession:DOID:0080630 term browser browse the term
Definition:A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. (DO)
Synonyms:exact_synonym: B LYMPHOBLASTIC LEUKEMIA/LYMPHOMA, NOT OTHERWISE SPECIFIED;   B lymphocytic leukemia;   B-ALL;   B-cell leukemia;   B-cell leukemias;   B-cell lymphocytic leukemia;   B-cell lymphocytic leukemias;   B-lymphocytic leukemias;   Pre B ALL;   acute pre-B-cell leukemia;   pre-B-cell acute lymphoblastic leukemia;   pre-B-cell leukemia;   pre-B-cell leukemias;   precursor B cell lymphoblastic leukemia;   precursor B cell lymphoblastic lymphoma;   precursor B lymphoblastic lymphoma/leukemia
 primary_id: MESH:D015448;   MESH:D015452
 alt_id: DOID:7061;   OMIM:176310
 xref: ICDO:9836/3;   NCI:C8936


show annotations for term's descendants           Sort by:
B-lymphoblastic leukemia/lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 disease_progression ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:24141364 PMID:22699455 RGD:11075072 NCBI chr11:11,634,970...11,722,930
Ensembl chr11:11,634,980...11,722,926 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 More... NCBI chr 2:104,956,361...104,957,127 JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:28492532 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:26080840 PMID:26295973 PMID:28492532 NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:28492532 NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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 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 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 More... NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961 		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: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 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:1359493 PMID:1565143 PMID:1565144 PMID:1631137 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
B-lymphoblastic leukemia/lymphoma with BCR-ABL1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 ClinVar PMID:22658618 PMID:25741868 PMID:28492532 NCBI chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320 		JBrowse link
B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1a bone morphogenetic protein receptor, type 1A ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868 PMID:28492532 PMID:30093976 NCBI chr14:34,133,018...34,225,335
Ensembl chr14:34,132,691...34,225,298 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868 PMID:28492532 PMID:33471991 NCBI chr 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262 		JBrowse link
G 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 More... NCBI chr15:76,587,753...76,594,820
Ensembl chr15:76,587,753...76,594,748 		JBrowse link
B-lymphoblastic leukemia/lymphoma with hyperdiploidy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
B-lymphoblastic leukemia/lymphoma with hypodiploidy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16109
    disease of anatomical entity 15665
      hematopoietic system disease 3274
        leukocyte disease 1285
          B-cell lymphoma 349
            B-lymphoblastic leukemia/lymphoma 120
              B acute lymphoblastic leukemia with DUX4 rearrangement 0
              B acute lymphoblastic leukemia with PAX5 P80R mutation 0
              B-Cell CLL/Lymphoma 2 0
              B-Cell Chronic Lymphocytic Leukemia 75
              B-cell adult acute lymphocytic leukemia 0
              B-cell prolymphocytic leukemia 0
              B-lymphoblastic leukemia/lymphoma MLL rearranged 0
              B-lymphoblastic leukemia/lymphoma with BCR-ABL1 1
              B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 4
              B-lymphoblastic leukemia/lymphoma with IL3-IGH 0
              B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 0
              B-lymphoblastic leukemia/lymphoma with hyperdiploidy 1
              B-lymphoblastic leukemia/lymphoma with hypodiploidy 1
              B-lymphoblastic leukemia/lymphoma with iAMP21 0
              B-lymphoblastic leukemia/lymphoma, BCR-ABL1-like 0
              childhood B-cell acute lymphoblastic leukemia 0
Path 2
Term Annotations click to browse term
  disease 16109
    disease of anatomical entity 15665
      Immune & Inflammatory Diseases 5180
        immune system disease 4472
          immune system cancer 642
            lymphatic system cancer 642
              lymphoma 554
                lymphoid leukemia 289
                  acute leukemia 277
                    acute lymphoblastic leukemia 275
                      B-cell acute lymphoblastic leukemia 122
                        B-lymphoblastic leukemia/lymphoma 120
                          B acute lymphoblastic leukemia with DUX4 rearrangement 0
                          B acute lymphoblastic leukemia with PAX5 P80R mutation 0
                          B-Cell CLL/Lymphoma 2 0
                          B-Cell Chronic Lymphocytic Leukemia 75
                          B-cell adult acute lymphocytic leukemia 0
                          B-cell prolymphocytic leukemia 0
                          B-lymphoblastic leukemia/lymphoma MLL rearranged 0
                          B-lymphoblastic leukemia/lymphoma with BCR-ABL1 1
                          B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 4
                          B-lymphoblastic leukemia/lymphoma with IL3-IGH 0
                          B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 0
                          B-lymphoblastic leukemia/lymphoma with hyperdiploidy 1
                          B-lymphoblastic leukemia/lymphoma with hypodiploidy 1
                          B-lymphoblastic leukemia/lymphoma with iAMP21 0
                          B-lymphoblastic leukemia/lymphoma, BCR-ABL1-like 0
                          childhood B-cell acute lymphoblastic leukemia 0
paths to the root