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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:B-Cell Chronic Lymphocytic Leukemia
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Accession:DOID:9002227 term browser 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;   CLLS1;   CLLS2;   CLLS3;   CLLS4;   CLLS5;   Chronic B-Lymphocytic Leukemia;   Chronic B-Lymphocytic Leukemias;   Chronic Lymphoblastic Leukemia;   Chronic Lymphoblastic Leukemias;   DBM;   Diffuse Well Differentiated Lymphocytic Lymphoma;   Disrupted In B-Cell Malignancy;   LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 1;   LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 2;   LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 3;   LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 4;   LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 5;   Lymphocytic Lymphoma;   Lymphocytic Lymphomas;   Lymphoma, Small Lymphocytic, Plasmacytoid;   Small Cell Lymphoma;   Small Lymphocytic Lymphoma;   Small-Cell Lymphomas;   chronic B-cell leukemia;   chronic B-cell leukemias;   low-grade B-cell malignancy;   small lymphocytic lymphomas;   well-differentiated lymphocytic lymphoma;   well-differentiated lymphocytic lymphomas
 primary_id: MESH:D015451
 alt_id: OMIM:109543;   OMIM:151400;   OMIM:609630;   OMIM:612557;   OMIM:612558;   OMIM:612559;   RDO:0006876
 xref: NCI:C7540
For additional species annotation, visit the Alliance of Genome Resources.


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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 IAGP DNA:SNPs,haplotype: :rs1481012,rs2231142(human) RGD PMID:21918980 RGD:11080977 NCBI chr 4:88,090,264...88,231,626
Ensembl chr 4:88,090,150...88,231,628
JBrowse link
G ACOXL acyl-CoA oxidase like EXP CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 2:110,732,539...111,120,610
Ensembl chr 2:110,732,573...111,118,548
Ensembl chr 2:110,732,573...111,118,548
JBrowse link
G AICDA activation induced cytidine deaminase disease_progression IEP RGD PMID:21133730 RGD:11039455 NCBI chr12:8,602,170...8,612,970
Ensembl chr12:8,602,170...8,612,867
JBrowse link
G APOE apolipoprotein E disease_progression IAGP RGD PMID:18784741 RGD:11040549 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G ATM ATM serine/threonine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17968022 NCBI chr11:108,222,484...108,369,102
Ensembl chr11:108,222,832...108,369,102
Ensembl chr11:108,222,832...108,369,102
JBrowse link
G BCL11A BAF chromatin remodeling complex subunit BCL11A IAGP DNA:translocation:5' utr: (human) RGD PMID:11719382 RGD:11100004 NCBI chr 2:60,450,520...60,553,654
Ensembl chr 2:60,450,520...60,554,467
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment
severity
no_association
IMP
EXP
IEP
IAGP
CTD Direct Evidence: marker/mechanism
protein:increased expression:B cell (human)
DNA:snp:promoter:g.-938C>A (human)
CTD PMID:21750559, PMID:23770605, PMID:17296974, PMID:20001236, PMID:17959858, PMID:16960146 RGD:11522735, RGD:11526110, RGD:11526105, RGD:11526104 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BMF Bcl2 modifying factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr15:40,087,890...40,108,879
Ensembl chr15:40,087,890...40,108,892
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar PMID:12068308, PMID:14612909, PMID:14679157, PMID:14688025, PMID:17096326, PMID:17119447, PMID:17311103, PMID:18368129, PMID:18794803, PMID:19383316, PMID:19537845, PMID:19913317, PMID:20350999, PMID:20619739, PMID:21129611, PMID:22310681, PMID:23352452, PMID:24033266, PMID:25157968, PMID:26619011, PMID:28492532, PMID:29595366 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BTK Bruton tyrosine kinase treatment IMP
IAGP
ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:24869598, PMID:28492532, PMID:23045577 RGD:11040699 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,447...101,390,796
JBrowse link
G C11orf21 chromosome 11 open reading frame 21 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr11:2,295,628...2,303,140
Ensembl chr11:2,295,645...2,303,049
Ensembl chr11:2,295,645...2,303,049
JBrowse link
G CBL Cbl proto-oncogene severity IEP
IDA
mRNA,protein:increased expression:CD5+ B cell:
DNA:hypophosphorylation:CD5+ B cell:
RGD PMID:17804547, PMID:17804547 RGD:11038803, RGD:11038803 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
Ensembl chr11:119,206,298...119,313,926
JBrowse link
G CCDC50 coiled-coil domain containing 50 IDA RGD PMID:19641524 RGD:9685139 NCBI chr 3:191,329,082...191,398,659
Ensembl chr 3:191,329,085...191,398,659
JBrowse link
G CD40 CD40 molecule IMP RGD PMID:20616215 RGD:5490532 NCBI chr20:46,118,242...46,129,858
Ensembl chr20:46,118,278...46,129,863
JBrowse link
G CD40LG CD40 ligand IMP mouse-human chimeric gene in human RGD PMID:20882050 RGD:11352235 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CD5 CD5 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr11:61,093,963...61,127,852
Ensembl chr11:61,102,489...61,127,852
JBrowse link
G CD79B CD79b molecule IEP protein:decreased expression:B lymphocyte, cell surface (human) RGD PMID:9269755 RGD:11250403 NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,740...63,932,354
Ensembl chr17:63,928,740...63,932,354
JBrowse link
G CD86 CD86 molecule severity IEP protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25179679 RGD:11354969 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G CDKN2B-AS1 CDKN2B antisense RNA 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 9:21,994,791...22,121,097
Ensembl chr 9:21,994,139...22,128,103
JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr15:82,543,201...82,648,795
Ensembl chr15:82,543,201...82,648,861
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IEP protein:increased expression:T cell RGD PMID:16094420, PMID:15914560 RGD:11344923, RGD:11352246 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,867,771...203,873,965
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IEP RGD PMID:18077792 RGD:11251735 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689
JBrowse link
G DNMT3B DNA methyltransferase 3 beta IEP mRNA:decreased expression: B cell RGD PMID:15467427 RGD:9589146 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,356
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit severity IAGP DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:22739018, PMID:19484764 RGD:11252203, RGD:11252204 NCBI chr19:45,349,837...45,370,647
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr 2:241,356,285...241,494,841
Ensembl chr 2:241,356,285...241,494,841
JBrowse link
G FAS Fas cell surface death receptor disease_progression IEP RGD PMID:12901972 RGD:11049461 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:25741868, PMID:26619011 NCBI chr 4:152,320,544...152,536,873
Ensembl chr 4:152,320,544...152,536,092
JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa no_association IAGP DNA:SNP:exon:p.F158V (rs396991) (human) RGD PMID:14563637 RGD:11352260 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,737
JBrowse link
G GNAS GNAS complex locus disease_progression IAGP DNA:polymorphism:393T>C (human) RGD PMID:17020971 RGD:1601379 NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar PMID:12835555, PMID:16329078, PMID:16372351, PMID:16835863, PMID:17211612, PMID:17384584, PMID:18042262, PMID:19213030, PMID:19255327, PMID:19773371, PMID:20859122, PMID:21438134, PMID:21495179, PMID:21850009, PMID:22256804, PMID:22499344, PMID:22683711, PMID:22726224, PMID:23093928, 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:28492532, PMID:29493581, PMID:31775759, PMID:168335863 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,287
JBrowse link
G ICAM1 intercellular adhesion molecule 1 severity IEP RGD PMID:7658704 RGD:11354983 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IFNG interferon gamma susceptibility IAGP DNA:polymorphism: :847A>T(human) RGD PMID:19757192 RGD:10755703 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IGHV3-21 immunoglobulin heavy variable 3-21 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15817677 NCBI chr14:106,235,062...106,235,515
Ensembl chr14:106,235,064...106,235,594
JBrowse link
G IL10 interleukin 10 disease_progression
no_association
IEP
IAGP
protein:increased expression:serum
DNA:SNPs: :multiple
DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)
RGD PMID:22945689, PMID:10638947, PMID:19573080, PMID:19573080 RGD:11041895, RGD:11049174, RGD:11049165, RGD:11049165 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL19 interleukin 19 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,981
JBrowse link
G IL1A interleukin 1 alpha IAGP RGD PMID:19074885 RGD:11051968 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL1B interleukin 1 beta severity IAGP
IEP
DNA:SNP:promoter:-511C>T (human)
protein:decreased expression:plasma:
RGD PMID:18271063, PMID:10870116 RGD:11051967, RGD:11522755 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist IEP protein:decreased expression:plasma: RGD PMID:10870116 RGD:11522755 NCBI chr 2:113,099,365...113,134,016
Ensembl chr 2:113,107,214...113,134,016
JBrowse link
G IL6 interleukin 6 IEP
EXP
protein:increased expression:plasma:
CTD Direct Evidence: marker/mechanism
CTD PMID:18006695, PMID:10870116 RGD:11522755 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IRF4 interferon regulatory factor 4 disease_progression IEP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:18758461, PMID:12393648, PMID:12079517 RGD:11526160, RGD:11530024 NCBI chr 6:391,752...411,443
Ensembl chr 6:391,752...411,443
JBrowse link
G ITGA4 integrin subunit alpha 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21093051 NCBI chr 2:181,457,205...181,538,940
Ensembl chr 2:181,457,202...181,538,940
JBrowse link
G KLRC4 killer cell lectin like receptor C4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,382...10,409,757
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:2278970, PMID:3122217, PMID:12460918, PMID:15696205, PMID:16361624, PMID:16434492, PMID:16618717, PMID:18316791, PMID:18794081, PMID:19075190, PMID:19114683, PMID:19679400, PMID:20921462, PMID:20921465, PMID:21228335, PMID:22407852, PMID:22722830, PMID:23325582, PMID:25157968, PMID:26619011 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LEF1 lymphoid enhancer binding factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 4:108,047,548...108,168,932
Ensembl chr 4:108,047,545...108,168,956
JBrowse link
G LILRA4 leukocyte immunoglobulin like receptor A4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr19:54,333,185...54,339,162
Ensembl chr19:54,333,185...54,339,162
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar PMID:12835555, PMID:16329078, PMID:16372351, PMID:16835863, PMID:17211612, PMID:17384584, PMID:18042262, PMID:19213030, PMID:19255327, PMID:19773371, PMID:20859122, PMID:21438134, PMID:21495179, PMID:21850009, PMID:22256804, PMID:22499344, PMID:22683711, PMID:22726224, PMID:23093928, 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:28492532, PMID:29493581, PMID:31775759, PMID:168335863 NCBI chr11:518,967...554,916
Ensembl chr11:537,527...554,912
JBrowse link
G MIR143 microRNA 143 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr 5:149,428,918...149,429,023
Ensembl chr 5:149,428,918...149,429,023
JBrowse link
G MIR145 microRNA 145 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733
JBrowse link
G MS4A1 membrane spanning 4-domains A1 IDA RGD PMID:19911856 RGD:2316994 NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,752...60,470,760
Ensembl chr11:60,455,752...60,470,760
JBrowse link
G MTHFR methylenetetrahydrofolate reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16706930 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:1654209, PMID:2278970, PMID:2674680, PMID:3122217, PMID:6587382, PMID:8120410, PMID:10821536, PMID:12460918, PMID:12727991, PMID:14508525, PMID:15899789, PMID:16273091, PMID:16291983, PMID:16434492, PMID:17699718, PMID:18390968, PMID:18633438, PMID:18668139, PMID:18948947, PMID:19075190, PMID:19657110, PMID:19880792, PMID: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:26619011, PMID:26821351, PMID:27050078, PMID:28492532, PMID:28780248 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G P2RX7 purinergic receptor P2X 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11003599 NCBI chr12:121,132,819...121,188,032
Ensembl chr12:121,132,819...121,188,032
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 severity IEP protein:increased expression:B cell (human) RGD PMID:12673718 RGD:11541127 NCBI chr17:64,319,415...64,413,844
Ensembl chr17:64,319,415...64,413,776
JBrowse link
G PLCG2 phospholipase C gamma 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27542411 NCBI chr16:81,779,291...81,962,685
Ensembl chr16:81,739,097...81,962,685
JBrowse link
G PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr18:59,899,996...59,904,305
Ensembl chr18:59,899,948...59,904,306
Ensembl chr18:59,899,948...59,904,306
JBrowse link
G POLB DNA polymerase beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 8:42,338,452...42,371,810
Ensembl chr 8:42,338,454...42,371,808
JBrowse link
G PPP2R5C protein phosphatase 2 regulatory subunit B'gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr14:101,760,573...101,927,992
Ensembl chr14:101,761,798...101,927,989
JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator IEP protein:increased expression:mononuclear cell (human) RGD PMID:16620968 RGD:11535021 NCBI chr22:22,547,701...22,559,294
Ensembl chr22:22,547,701...22,559,361
JBrowse link
G PRKD2 protein kinase D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr19:46,674,316...46,717,114
Ensembl chr19:46,674,275...46,717,127
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16314473 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,423
JBrowse link
G QPCT glutaminyl-peptide cyclotransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 2:37,344,630...37,373,322
Ensembl chr 2:37,342,827...37,373,322
JBrowse link
G RBL2 RB transcriptional corepressor like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr16:53,434,471...53,491,648
Ensembl chr16:53,433,977...53,491,648
JBrowse link
G SF3B1 splicing factor 3b subunit 1 IAGP
EXP
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22158541, PMID:23634996, PMID:26619011 NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,091
Ensembl chr 2:197,388,515...197,435,091
JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr11:66,052,361...66,069,308
Ensembl chr11:66,050,729...66,069,308
JBrowse link
G SP140 SP140 nuclear body protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr 2:230,202,743...230,316,571
Ensembl chr 2:230,203,110...230,313,215
JBrowse link
G TERT telomerase reverse transcriptase disease_progression IEP RGD PMID:17344921 RGD:11038662 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TFRC transferrin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chr 3:196,018,694...196,082,123
Ensembl chr 3:196,027,183...196,082,096
JBrowse link
G THBD thrombomodulin IEP RGD PMID:21812019 RGD:5685033 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
G TNF tumor necrosis factor disease_progression IEP protein:increased expression:bone marrow, blood, lymphocyte RGD PMID:12010662, PMID:22945689 RGD:10449463, RGD:11041895 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF10A TNF receptor superfamily member 10a susceptibility IAGP 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 chr 8:23,190,452...23,225,102
Ensembl chr 8:23,190,452...23,225,102
JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a EXP CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
JBrowse link
G TNFSF11 TNF superfamily member 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
JBrowse link
G TNFSF13 TNF superfamily member 13 IEP protein:increased expression:serum RGD PMID:15488762 RGD:1549466 NCBI chr17:7,558,292...7,561,608
Ensembl chr17:7,558,292...7,561,608
JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 9:114,893,343...114,930,674
Ensembl chr 9:114,893,343...114,930,595
JBrowse link
G TOPBP1 DNA topoisomerase II binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 3:133,600,238...133,661,968
Ensembl chr 3:133,598,175...133,662,380
JBrowse link
G TP53 tumor protein p53 disease_progression IAGP
EXP
DNA:deletion: :
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1359493, PMID:1565143, PMID:1565144, PMID:1631137, PMID:1679237, PMID:1683921, PMID:1978757, PMID:2046748, PMID:2531845, PMID:2554494, PMID:2826609, PMID:7651740, PMID:7732013, PMID:7791795, PMID:7887414, PMID:8023157, PMID:8062826, PMID:8099841, PMID:8164043, PMID:8242631, PMID:8423216, PMID:8425176, PMID:8479749, PMID:8527048, PMID:8718514, PMID:8825920, PMID:9242456, PMID:9290701, PMID:9364015, PMID:9407971, PMID:9546439, PMID:9569050, PMID:9598730, PMID:9627118, PMID:9632751, PMID:9825943, PMID:9839505, PMID:10064694, PMID:10411893, PMID:10519380, PMID:10761705, PMID:10797439, PMID:10864200, 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:12406399, PMID:12672316, PMID:12700230, PMID:12726864, PMID:12826609, PMID:12917626, PMID:14559903, PMID:14584079, PMID:14673037, PMID:15004724, PMID:15017592, PMID:15381368, PMID:15390294, PMID:15607980, PMID:15607981, PMID:15722483, PMID:15825182, PMID:15925506, PMID:15951970, PMID:16337994, PMID:16401470, PMID:16439677, PMID:16489069, PMID:16682957, PMID:16818505, PMID:16827139, PMID:16861262, PMID:17390010, PMID:17417627, PMID:17427234, PMID:17540308, PMID:17572079, PMID:17606709, PMID:17636407, PMID:17724467, PMID:18511570, PMID:18685109, PMID:19147582, PMID:19378321, PMID:19405127, PMID:19556618, PMID:19681600, PMID:19850740, PMID:19930417, PMID:20013323, PMID:20113312, PMID:20128691, PMID:20308654, PMID:20407015, PMID:20505364, PMID:20516128, PMID:20522432, PMID:20693561, PMID:20805372, PMID:20878954, PMID:21056685, PMID:21059199, PMID:21115975, PMID:21159183, PMID:21187651, PMID:21305319, PMID:21343334, PMID:21483000, PMID:21484931, PMID:21514416, PMID:21519010, PMID:21535297, PMID:21552135, PMID:21601526, PMID:21761402, PMID:22006311, PMID:22109999, PMID:22110706, PMID:22114072, PMID:22186996, PMID:22198284, PMID:22233476, PMID:22265402, PMID:22713868, PMID:22811390, PMID:22844452, PMID:22866089, PMID:22899716, PMID:22915647, PMID:22919068, PMID:23161690, PMID:23172776, PMID:23246812, PMID:23263379, PMID:23265383, PMID:23538418, PMID:23667202, PMID:23713777, PMID:23792586, PMID:23894400, PMID:23950206, PMID:24033266, PMID:24038938, PMID:24381225, PMID:24487413, PMID:24501221, PMID:24573247, PMID:24590827, PMID:24603336, PMID:24641375, PMID:24651012, PMID:24651015, PMID:24677579, PMID:24766216, PMID:24810334, PMID:25157968, PMID:25293557, PMID:25294809, PMID:25339994, PMID:25504633, PMID:25525159, PMID:25584008, PMID:25584637, PMID:25634208, PMID:25691460, PMID:25741868, PMID:25787918, PMID:25896519, PMID:25925845, PMID:25927356, PMID:25945745, PMID:25952993, PMID:26014290, PMID:26024390, PMID:26230955, PMID:26425688, PMID:26467025, PMID:26534844, PMID:26585234, PMID:26619011, PMID:26681312, PMID:26781615, PMID:26787237, PMID:26822237, PMID:26845104, PMID:27179933, PMID:27276561, PMID:27276934, PMID:27374712, PMID:27463065, PMID:27493922, PMID:27501770, PMID:27523101, PMID:27680515, PMID:27683180, PMID:27714481, PMID:27724982, PMID:27895058, PMID:27959731, PMID:28152038, PMID:28369373, PMID:28453743, PMID:28472496, PMID:28476805, PMID:28492532, PMID:28724667, PMID:28861920, PMID:29025599, PMID:29324801, PMID:29416011, PMID:29470806, PMID:29478780, PMID:29489754, PMID:29752822, PMID:29979965, PMID:30076369, PMID:30224644, PMID:30327374, PMID:30720243, PMID:30840781, PMID:31775759, PMID:10867151 RGD:11075074 NCBI chr17:7,668,402...7,687,550
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G VDR vitamin D receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:12446453 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G XPO1 exportin 1 IAGP ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr 2:61,477,849...61,538,522
Ensembl chr 2:61,477,849...61,538,626
JBrowse link
G XRCC1 X-ray repair cross complementing 1 severity
no_association
IAGP 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 chr19:43,543,311...43,575,527
Ensembl chr19:43,543,040...43,580,473
Ensembl chr19:43,543,040...43,580,473
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    disease of cellular proliferation 6853
      Neoplasms by Histologic Type 4078
        lymphoma 519
          chronic lymphocytic leukemia 94
            B-Cell Chronic Lymphocytic Leukemia 79
Path 2
Term Annotations click to browse term
  disease 18864
    disease of cellular proliferation 6853
      cancer 4662
        organ system cancer 4492
          immune system cancer 601
            lymphatic system cancer 601
              lymphoma 519
                lymphoid leukemia 297
                  acute leukemia 284
                    acute lymphoblastic leukemia 282
                      B-cell acute lymphoblastic leukemia 132
                        B-lymphoblastic leukemia/lymphoma 132
                          B-Cell Chronic Lymphocytic Leukemia 79
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.