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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:diffuse large B-cell lymphoma
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Accession:DOID:0050745 term browser browse the term
Definition:A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern. (DO)
Synonyms:exact_synonym: DLBCL;   EFO:0000403;   diffuse histiocytic lymphoma;   diffuse histiocytic lymphomas;   diffuse large cell lymphoma;   diffuse large lymphoid lymphoma;   diffuse large-cell lymphomas;   histiocytic lymphoma;   histiocytic lymphomas
 narrow_synonym: Breast Diffuse Large B-Cell Lymphoma;   Colorectal Diffuse Large B-Cell Lymphoma;   PCLBCL;   Primary Pulmonary Diffuse Large B-Cell Lymphoma;   Small Intestinal Diffuse Large B-Cell Lymphoma;   Thyroid Gland Diffuse Large B-Cell Lymphoma;   primary cutaneous large B-cell lymphoma
 xref: EFO:0000403;   EFO:1000144;   EFO:1000191;   EFO:1000495;   EFO:1000534;   EFO:1000547;   EFO:1000587;   GARD:3178;   ICD11:2A81.Z;   ICDO:9680/3;   MESH:D016403;   NCI:C45605;   NCI:C80280;   NCI:C8851

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diffuse large B-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21325069 NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274 		JBrowse link
G ABCG2 ATP binding cassette subfamily G member 2 (JR blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21625222 NCBI chr 7:36,458,110...36,599,753 JBrowse link
G ALK ALK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr14:77,632,809...78,408,307 JBrowse link
G B2M beta-2-microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7688627 NCBI chr26:38,331,818...38,338,785
Ensembl chr26:38,331,442...38,338,809 		JBrowse link
G BCAS2 BCAS2 pre-mRNA processing factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr20:19,084,908...19,099,204
Ensembl chr20:19,084,954...19,099,590 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895 		JBrowse link
G BCL6 BCL6 transcription repressor disease_progression ISO diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region RGD PMID:11821949 PMID:15701085 RGD:11530023 RGD:1600111 NCBI chr15:81,997,659...82,022,059
Ensembl chr15:81,998,545...82,009,946 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar NCBI chr21:109,495,525...109,690,261 JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:9150172 PMID:18489799 PMID:20104584 PMID:21138478 PMID:22798144 More... NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213 		JBrowse link
G BTK Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:24869598 PMID:25082755 PMID:25189416 PMID:25741868 PMID:27199251 More... NCBI chr  X:89,690,569...89,727,420 JBrowse link
G CARD11 caspase recruitment domain family member 11 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exons:multiple (human)		 CTD
RGD		 PMID:18323416 PMID:25049379 PMID:26192916 RGD:11100036
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592 		JBrowse link
G CCDC86 coiled-coil domain containing 86 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23828858 NCBI chr 1:12,994,892...13,004,134
Ensembl chr 1:12,992,953...13,004,029 		JBrowse link
G CD22 CD22 molecule treatment ISO RGD PMID:25708834 RGD:151665133 NCBI chr 6:30,251,220...30,285,084
Ensembl chr 6:30,270,229...30,282,859 		JBrowse link
G CD40 CD40 molecule susceptibility ISO DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) RGD PMID:20473910 RGD:5490541 NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566 		JBrowse link
G CD79A CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:25049379 NCBI chr 6:36,078,057...36,089,367 JBrowse link
G CD79B CD79b molecule treatment
severity		 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma
DNA:missense mutation:multiple, exon 5 (human)		 RGD
ClinVar		 PMID:11160144 PMID:25708834 PMID:31402495 PMID:31609782 RGD:151665133 RGD:151665203 NCBI chr16:57,339,492...57,343,085
Ensembl chr16:57,339,457...57,343,358 		JBrowse link
G CDK1 cyclin dependent kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19223503 NCBI chr 9:70,475,736...70,492,947 JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:16199547 PMID:21876083 PMID:24713400 PMID:28492532 NCBI chr19:11,567,529...11,621,180
Ensembl chr19:11,567,528...11,604,792 		JBrowse link
G CLTC clathrin heavy chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr16:33,751,641...33,826,415
Ensembl chr16:33,752,556...33,799,102 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:24755471 PMID:28481359 PMID:30239046 PMID:33323405 NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943 		JBrowse link
G DICER1 dicer 1, ribonuclease III disease_progression ISO RGD PMID:25195038 RGD:149735347 NCBI chr24:72,915,550...72,986,658
Ensembl chr24:72,915,499...72,963,006 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:25363760 PMID:25741868 PMID:29900417 PMID:30478443 PMID:32581362 More... NCBI chr14:82,313,414...82,427,170
Ensembl chr14:82,402,826...82,420,819 		JBrowse link
G ETV6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:35053500 NCBI chr11:11,567,522...11,812,292
Ensembl chr11:11,567,632...11,811,716 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20081860 PMID:28438623 RGD:126779596 NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573 		JBrowse link
G FCGR2A Fc fragment of IgG receptor IIa disease_progression ISO DNA:SNP: :rs1801274 (human) RGD PMID:27282998 RGD:11344967 NCBI chr20:2,480,710...2,512,429 JBrowse link
G FOXO1 forkhead box O1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:26314988 PMID:29721381 PMID:35079069 NCBI chr 3:18,916,849...19,027,776
Ensembl chr 3:18,920,651...19,027,707 		JBrowse link
G GLI1 GLI family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21625222 NCBI chr11:53,371,929...53,384,339
Ensembl chr11:53,375,558...53,385,269 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility ISO DNA:SNP: :(rs1695)(human) RGD PMID:19338043 RGD:8547939 NCBI chr 1:6,676,897...6,679,936 JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression ISO proteion:increased expression:serum: RGD PMID:12598355 RGD:11354982 NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263 		JBrowse link
G IL21R interleukin 21 receptor ISO diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region RGD PMID:11821949 RGD:1600111 NCBI chr 5:25,105,947...25,153,914
Ensembl chr 5:25,106,519...25,153,703 		JBrowse link
G IMMP2L inner mitochondrial membrane peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr21:79,530,113...80,388,851 JBrowse link
G IRF4 interferon regulatory factor 4 disease_progression ISO RGD PMID:15701085 RGD:11530023 NCBI chr17:71,739,920...71,758,811 JBrowse link
G KMT2D lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804550 NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423 		JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 treatment ISO RGD PMID:20303013 RGD:10450835 NCBI chr20:23,854,969...23,861,634 JBrowse link
G LOC103246803 mismatch repair endonuclease PMS2 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar NCBI chr28:15,174,359...15,209,962
Ensembl chr28:15,172,100...15,209,852 		JBrowse link
G MALT1 MALT1 paracaspase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr18:20,984,985...21,064,198
Ensembl chr18:20,985,819...21,054,554 		JBrowse link
G MKI67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:20919850 RGD:6483541 NCBI chr 9:120,697,183...120,727,039
Ensembl chr 9:120,698,834...120,726,866 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human) RGD PMID:17712558 RGD:6893517 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor severity ISO DNA:missense mutation:L265P (human)
ClinVar Annotator: match by term: Diffuse large B cell lymphoma		 RGD
ClinVar		 PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... RGD:151665203 NCBI chr15:1,276,804...1,281,811
Ensembl chr15:1,276,798...1,281,166 		JBrowse link
G NBN nibrin ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:9590180 PMID:16415040 PMID:28492532 NCBI chr 8:85,017,807...85,069,219
Ensembl chr 8:85,015,752...85,069,028 		JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 6:38,320,791...38,361,419
Ensembl chr 6:38,320,933...38,361,742 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:21390130 PMID:22158541 PMID:23292937 NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307 		JBrowse link
G NFKBIA NFKB inhibitor alpha no_association ISO SNA:polymorphism(s) RGD PMID:15198731 RGD:2298905 NCBI chr24:12,211,619...12,216,185
Ensembl chr24:12,210,281...12,214,854 		JBrowse link
G NOM1 nucleolar protein with MIF4G domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr21:125,078,090...125,098,819 JBrowse link
G PDPK1 3-phosphoinositide dependent protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316 		JBrowse link
G PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr15:51,705,585...51,885,848
Ensembl chr15:51,775,733...51,889,238 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr20:122,040,131...122,111,397
Ensembl chr20:122,041,963...122,078,504 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr21:75,781,812...75,823,404
Ensembl chr21:75,784,648...75,825,496 		JBrowse link
G PRDM1 PR/SET domain 1 disease_progression ISO RGD PMID:22321048 RGD:150530470 NCBI chr13:67,695,436...67,719,487
Ensembl chr13:67,695,309...67,718,931 		JBrowse link
G PRDX3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 9:111,957,865...111,968,514
Ensembl chr 9:111,955,952...111,968,475 		JBrowse link
G PRDX4 peroxiredoxin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr  X:22,113,405...22,136,307
Ensembl chr  X:22,116,605...22,136,308 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31123343 NCBI chr29:23,288,458...23,297,746
Ensembl chr29:23,288,835...23,297,518 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:10468583 PMID:10555148 PMID:10698513 PMID:10866302 PMID:10866658 More... NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146 		JBrowse link
G RANGAP1 Ran GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27150054 NCBI chr19:23,789,839...23,829,653
Ensembl chr19:23,788,241...23,829,631 		JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19223503 NCBI chr16:33,498,098...33,556,553
Ensembl chr16:33,497,392...33,556,453 		JBrowse link
G SEC31A SEC31 homolog A, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr 7:31,207,349...31,288,484
Ensembl chr 7:31,207,089...31,288,574 		JBrowse link
G SF3A1 splicing factor 3a subunit 1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:22037554 PMID:26498691 PMID:33563892 NCBI chr19:13,213,059...13,237,200
Ensembl chr19:13,211,275...13,237,257 		JBrowse link
G SKP2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18850583 NCBI chr 4:35,009,114...35,040,518
Ensembl chr 4:35,009,076...35,042,632 		JBrowse link
G SMURF2 SMAD specific E3 ubiquitin protein ligase 2 ISO MouseDO NCBI chr16:56,615,171...56,728,239 JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:19734449 PMID:23296022 PMID:26336985 PMID:28302137 PMID:29625055 NCBI chr 5:10,731,866...10,733,745
Ensembl chr 5:10,732,350...10,732,991 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		JBrowse link
G SOD3 superoxide dismutase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr27:25,554,474...25,559,873
Ensembl chr27:25,555,082...25,555,804 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:21690253 PMID:22591296 PMID:22859607 PMID:23926297 PMID:25873174 More... NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984 		JBrowse link
G SYK spleen associated tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33782605 NCBI chr12:101,254,085...101,374,724
Ensembl chr12:101,260,061...101,349,856 		JBrowse link
G TBL1XR1 TBL1X/Y related 1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:9450851 PMID:16492805 PMID:21156281 PMID:21156282 PMID:25741868 More... NCBI chr15:12,223,404...12,406,165
Ensembl chr15:12,224,226...12,402,908 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More... NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		JBrowse link
G TXNIP thioredoxin interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr20:12,756,145...12,759,853
Ensembl chr20:12,756,053...12,761,177 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      hematopoietic system disease 3626
        leukocyte disease 1263
          B-cell lymphoma 327
            large B-cell lymphoma 70
              diffuse large B-cell lymphoma 70
                A53 diffuse large B-cell lymphoma 0
                BN2 diffuse large B-cell lymphoma 0
                EZB diffuse large B-cell lymphoma + 0
                Gastric Diffuse Large B-Cell Lymphoma 0
                MCD diffuse large B-cell lymphoma 0
                N1 diffuse large B-cell lymphoma 0
                ST2 diffuse large B-cell lymphoma 0
                diffuse large B-cell lymphoma activated B-cell type 0
                diffuse large B-cell lymphoma germinal center B-cell type 0
                plasmablastic lymphoma 0
                primary diffuse large B-cell lymphoma of the central nervous system 0
                primary mediastinal B-cell lymphoma 0
                relapsed/refractory diffuse large B-cell lymphoma 0
Path 2
Term Annotations click to browse term
  disease 15388
    disease of cellular proliferation 7341
      cancer 5416
        organ system cancer 5192
          immune system cancer 612
            lymphatic system cancer 612
              lymphoma 523
                non-Hodgkin lymphoma 443
                  B-cell lymphoma 327
                    large B-cell lymphoma 70
                      diffuse large B-cell lymphoma 70
                        A53 diffuse large B-cell lymphoma 0
                        BN2 diffuse large B-cell lymphoma 0
                        EZB diffuse large B-cell lymphoma + 0
                        Gastric Diffuse Large B-Cell Lymphoma 0
                        MCD diffuse large B-cell lymphoma 0
                        N1 diffuse large B-cell lymphoma 0
                        ST2 diffuse large B-cell lymphoma 0
                        diffuse large B-cell lymphoma activated B-cell type 0
                        diffuse large B-cell lymphoma germinal center B-cell type 0
                        plasmablastic lymphoma 0
                        primary diffuse large B-cell lymphoma of the central nervous system 0
                        primary mediastinal B-cell lymphoma 0
                        relapsed/refractory diffuse large B-cell lymphoma 0
paths to the root