B-cell lymphoma - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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 lymphoma	go back to main search page
Accession:	DOID:707	browse the term
Definition:	A non-Hodgkin lymphoma that has_material_basis_in B cells. (DO)
Synonyms:	exact_synonym:	B-Cell Non-Hodgkin Lymphoma, Somatic; B-cell lymphocytic neoplasm; B-cell lymphomas; B-cell non-Hodgkins lymphoma
	primary_id:	MESH:D016393
	xref:	EFO:1001938; GARD:5877; NCI:C27907; NCI:C3457
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (350) Mouse (445) Human (2414) Chinchilla (310) Bonobo (332) Dog (336) Squirrel (312) Pig (331) Green Monkey (327) Naked Mole-rat (308) All
Genes (347) Strains (1) Cell Lines (2)

B-cell lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 2

susceptibility

DNA:SNP: :rs6857600(human)

RGD

NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409

G

activation-induced cytidine deaminase

RGD

NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972

G

Bcl2-like 2

disease_progression

RGD

NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624

G

BCL6, transcription repressor

diffuse large B-cell lymphoma

RGD

NCBI chr11:76,854,090...76,877,389
Ensembl chr11:76,854,090...76,877,389

G

bromodomain containing 2

RGD

NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388

G

Bruton tyrosine kinase

treatment

human cell in a mouse model

RGD

PMID:25662332 PMID:28348046

RGD:11040764, RGD:124713554

NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853

G

chromobox 7

RGD

NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973

G

CD40 molecule

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

colony stimulating factor 2

treatment

RGD

NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

G

ELL associated factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity
treatment

PMID:23982173 PMID:29456795

RGD:10755356, RGD:126781726

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

interleukin 21 receptor

diffuse large B-cell lymphoma

RGD

NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522

G

Janus kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536

G

lysine acetyltransferase 5

severity

RGD

NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458

G

galectin 1

protein:increased expression:primary tumor (rat)

RGD

NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345

G

microRNA 143

CTD Direct Evidence: marker/mechanism

NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110

G

microRNA 145

CTD Direct Evidence: marker/mechanism

NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727

G

NRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

protein tyrosine phosphatase, non-receptor type 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504

G

signal transducer and activator of transcription 5A

RGD

NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421

G

TNF superfamily member 9

RGD

NCBI chr 9:1,944,017...1,946,351
Ensembl chr 9:1,944,017...1,946,345

B-Cell Chronic Lymphocytic Leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 2

susceptibility

DNA:SNPs,haplotype: :rs1481012,rs2231142(human)

RGD

NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409

G

acyl-CoA oxidase-like

CTD Direct Evidence: marker/mechanism

NCBI chr 3:115,061,069...115,367,032
Ensembl chr 3:115,061,060...115,364,686

G

activation-induced cytidine deaminase

disease_progression

RGD

NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972

G

apolipoprotein E

disease_progression

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

BCL11 transcription factor A

DNA:translocation:5' utr: (human)

RGD

NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180

G

BCL2, apoptosis regulator

treatment
severity
no_association

CTD Direct Evidence: marker/mechanism
protein:increased expression:B cell (human)
DNA:snp:promoter:g.-938C>A (human)

CTD
RGD

PMID:21750559 PMID:23770605 PMID:17296974 PMID:20001236 PMID:17959858 More...

RGD:11522735, RGD:11526110, RGD:11526105, RGD:11526104

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

Bcl2 modifying factor

CTD Direct Evidence: marker/mechanism

NCBI chr 3:105,499,534...105,520,159
Ensembl chr 3:105,499,538...105,520,145

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic

PMID:12068308 PMID:12198537 PMID:12692057 PMID:12960123 PMID:14612909 More...

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

Bruton tyrosine kinase

treatment

ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia

PMID:24869598 PMID:25741868 PMID:28492532 PMID:23045577

NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853

G

Cbl proto-oncogene

severity

mRNA,protein:increased expression:CD5+ B cell:
DNA:hypophosphorylation:CD5+ B cell:

RGD

PMID:17804547 PMID:17804547

RGD:11038803, RGD:11038803

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

G

coiled-coil domain containing 50

RGD

NCBI chr11:73,332,798...73,395,333
Ensembl chr11:73,334,248...73,395,150

G

CD40 molecule

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

mouse-human chimeric gene in human

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

Cd5 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 1:207,365,337...207,386,313
Ensembl chr 1:207,365,337...207,386,313

G

CD79b molecule

protein:decreased expression:B lymphocyte, cell surface (human)
DNA:polymorphism:multiple (human)
mRNA, protein:splice variants, alternative forms:exon 3 (human)

RGD

PMID:9269755 PMID:10552962 PMID:10090943

RGD:11250403, RGD:151665202, RGD:151665190

NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625

G

CD86 molecule

severity

protein:increased expression:peripheral blood mononuclear cell (human)

RGD

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

cytoplasmic polyadenylation element binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760

G

cytotoxic T-lymphocyte-associated protein 4

protein:increased expression:T cell

RGD

PMID:16094420 PMID:15914560

RGD:11344923, RGD:11352246

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

dyskerin pseudouridine synthase 1

RGD

G

DNA methyltransferase 3 beta

mRNA:decreased expression: B cell

RGD

NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124

G

ERCC excision repair 2, TFIIH core complex helicase subunit

severity

DNA:SNP: :p.K751Q (rs13181) (human)

RGD

PMID:22739018 PMID:19484764

RGD:11252203, RGD:11252204

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

FERM, ARH/RhoGEF and pleckstrin domain protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:94,053,650...94,161,982
Ensembl chr 9:94,053,726...94,162,212

G

Fas cell surface death receptor

disease_progression

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic

PMID:25741868 PMID:26619011

NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941

G

Fc gamma receptor 3A

no_association

DNA:SNP:exon:p.F158V (rs396991) (human)

RGD

NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921

G

GNAS complex locus

disease_progression

DNA:polymorphism:393T>C (human)

RGD

NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Leukemia, B-cell, chronic

PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 More...

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

intercellular adhesion molecule 1

severity

RGD

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

interferon gamma

susceptibility

DNA:polymorphism: :847A>T(human)

RGD

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

interleukin 10

disease_progression
no_association

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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 19

CTD Direct Evidence: marker/mechanism

NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473

G

interleukin 1 alpha

RGD

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

severity

DNA:SNP:promoter:-511C>T (human)
protein:decreased expression:plasma:

RGD

PMID:18271063 PMID:10870116

RGD:11051967, RGD:11522755

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

protein:decreased expression:plasma:

RGD

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 6

protein:increased expression:plasma:
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18006695 PMID:10870116

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

interferon regulatory factor 4

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18758461 PMID:12393648 PMID:12079517

RGD:11526160, RGD:11530024

NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070

G

integrin subunit alpha 4

CTD Direct Evidence: marker/mechanism

NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Leukemia, B-cell, chronic

PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More...

NCBI chr 4:178,185,418...178,218,484

G

lymphoid enhancer binding factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Leukemia, B-cell, chronic

PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 More...

NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

G

microRNA 143

CTD Direct Evidence: marker/mechanism

NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110

G

microRNA 145

CTD Direct Evidence: marker/mechanism

NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727

G

membrane spanning 4-domains A1

RGD

NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

MYD88, innate immune signal transduction adaptor

ClinVar Annotator: match by term: Leukemia, B-cell, chronic

PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More...

NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Leukemia, B-cell, chronic

PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More...

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

purinergic receptor P2X 7

CTD Direct Evidence: marker/mechanism

NCBI chr12:33,889,709...33,934,168
Ensembl chr12:33,879,745...33,934,619

G

platelet and endothelial cell adhesion molecule 1

severity

protein:increased expression:B cell (human)

RGD

NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116

G

phospholipase C, gamma 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia

PMID:24869598 PMID:27542411 PMID:28492532

NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930

G

phorbol-12-myristate-13-acetate-induced protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:59,986,020...59,992,434
Ensembl chr18:59,986,017...59,992,429

G

DNA polymerase beta

CTD Direct Evidence: marker/mechanism

NCBI chr16:69,379,438...69,402,710
Ensembl chr16:69,379,400...69,404,812

G

protein phosphatase 2, regulatory subunit B', gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 6:129,461,689...129,598,344
Ensembl chr 6:129,461,648...129,598,346

G

PRAME like, X-linked 1

protein:increased expression:mononuclear cell (human)

RGD

NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096

G

protein kinase D2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:77,513,625...77,542,386
Ensembl chr 1:77,513,986...77,542,376

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

protein tyrosine phosphatase, non-receptor type 11

ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic

PMID:12161469 PMID:12717436 PMID:14644997 PMID:14982869 PMID:15385933 More...

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

glutaminyl-peptide cyclotransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:15,964,656...15,996,730
Ensembl chr 6:15,964,657...15,996,711

G

RB transcriptional corepressor like 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:15,876,852...15,923,632
Ensembl chr19:15,876,853...15,923,572

G

splicing factor 3b, subunit 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic

PMID:22158541 PMID:23634996 PMID:25741868 PMID:26619011

NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300

G

splicing factor 3b, subunit 2

ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic

NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759

G

SP140 nuclear body protein

CTD Direct Evidence: marker/mechanism

NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542

G

telomerase reverse transcriptase

disease_progression

RGD

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

transferrin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257

G

thrombomodulin

RGD

NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193

G

tumor necrosis factor

disease_progression

protein:increased expression:bone marrow, blood, lymphocyte

RGD

PMID:12010662 PMID:22945689

RGD:10449463, RGD:11041895

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 10b

susceptibility

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 chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467

G

TNF receptor superfamily member 11A

CTD Direct Evidence: marker/mechanism

NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695

G

TNF superfamily member 11

CTD Direct Evidence: marker/mechanism

NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445

G

TNF superfamily member 13

protein:increased expression:serum

RGD

NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421

G

DNA topoisomerase II binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674

G

tumor protein p53

disease_progression

DNA:deletion: :
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:253702 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 More...

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

vitamin D receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

G

exportin 1

ClinVar Annotator: match by term: Leukemia, B-cell, chronic

NCBI chr14:97,233,282...97,275,536
Ensembl chr14:97,233,270...97,275,498

G

X-ray repair cross complementing 1

severity
no_association

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 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701

B-lymphoblastic leukemia/lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

treatment

RGD

NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568

G

aldo-keto reductase family 1, member C3

treatment

RGD

NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873

G

activating transcription factor 7 interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 4:169,385,872...169,471,652
Ensembl chr 4:169,385,872...169,471,650

G

Bcl2-like 1

severity

RGD

NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479

G

BCR activator of RhoGEF and GTPase

BCR/ABL fusion

RGD

NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016

G

bromodomain containing 2

RGD

NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734

G

cyclin D1

mRNA:increased expression:B cell (mouse)

RGD

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

cyclin-dependent kinase inhibitor 2A

treatment
susceptibility

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 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2A, variant 2

treatment

RGD

PMID:21622646 PMID:16618932

RGD:11251772, RGD:11251751

G

cytokine receptor-like factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:103,943...108,643
Ensembl chr14:103,939...108,642

G

cytochrome P450, family 3, subfamily a, polypeptide 9

treatment

DNA:polymorphisms: :

RGD

NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422

G

double homeobox 4

CTD Direct Evidence: marker/mechanism

NCBI chr16:1,558,430...1,570,045
Ensembl chr16:1,558,766...1,568,565

G

ETS variant transcription factor 6

CTD Direct Evidence: marker/mechanism

PMID:15217836 PMID:24413735 PMID:25807284

NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992

G

coagulation factor XIII A1 chain

protein:increased expression:B lymphoblast:

RGD

NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700

G

coagulation factor III, tissue factor

treatment

RGD

NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668

G

fumarate hydratase

ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified

PMID:25741868 PMID:28492532

NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266

G

Fms related receptor tyrosine kinase 3

mRNA,protein:increased expression:bone marrow:

RGD

NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391

G

indoleamine 2,3-dioxygenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730

G

IKAROS family zinc finger 1

disease_progression

DNA:mutations: :
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:24141364 PMID:22699455

NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416

G

interleukin 5

RGD

NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213

G

interferon regulatory factor 4

RGD

PMID:25006123 PMID:20585039 PMID:21818355

RGD:11526159, RGD:11530030, RGD:11530020

NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070

G

interferon regulatory factor 8

RGD

NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829

G

intestine-specific homeobox

CTD Direct Evidence: marker/mechanism

NCBI chr19:13,217,637...13,239,754
Ensembl chr19:13,218,552...13,239,760

G

MAX dimerization protein MGA

CTD Direct Evidence: marker/mechanism

NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043

G

MYB proto-oncogene, transcription factor

disease_progression

mRNA:splice variants:cds:

RGD

NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057

G

MYC proto-oncogene, bHLH transcription factor

RGD

NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630

G

paired box 5

CTD Direct Evidence: marker/mechanism

PMID:24013638 PMID:30643249

NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326

G

platelet derived growth factor receptor alpha

treatment

RGD

NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified

PMID:25741868 PMID:28492532

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

G

RUNX family transcription factor 1

onset

DNA:amplification
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15217836 PMID:24413735 PMID:21822204

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

signal transducer and activator of transcription 5A

protein:increased phosphorylation:bone marrow (human)

RGD

NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866

G

serine/threonine kinase 11

ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified

PMID:25741868 PMID:26080840 PMID:26295973 PMID:28492532

NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315

G

SUFU negative regulator of hedgehog signaling

ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified

PMID:25741868 PMID:28492532

NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577

G

transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314

G

tryptophan 2,3-dioxygenase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:167,269,581...167,287,511
Ensembl chr 2:167,269,579...167,287,511

G

tissue factor pathway inhibitor

treatment

RGD

NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880

G

TNF superfamily member 13

RGD

NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421

G

tumor protein p53

disease_progression

DNA:mutations: :

RGD

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

WT1 transcription factor

ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia

PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 More...

NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643

B-lymphoblastic leukemia/lymphoma with BCR-ABL1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mutS homolog 6

ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1

PMID:22658618 PMID:25741868 PMID:28492532

NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956

B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 1A

ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1

PMID:25741868 PMID:28492532 PMID:30093976

NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1

PMID:25741868 PMID:28492532 PMID:33471991

NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1

PMID:25741868 PMID:28492532

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

G

RecQ like helicase 4

ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1

PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15897384 More...

NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619

B-lymphoblastic leukemia/lymphoma with hyperdiploidy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Cbl proto-oncogene

ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

B-lymphoblastic leukemia/lymphoma with hypodiploidy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: B-lymphoblastic leukemia/lymphoma with hypodiploidy

PMID:25741868 PMID:28492532

NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535

Burkitt lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha 1,4-galactosyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564

G

Bcl-2 binding component 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:77,013,281...77,022,509
Ensembl chr 1:77,014,543...77,022,509

G

Bcl2-like 2

mRNA:increased expression:lymph node

RGD

NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624

G

BRCA1, DNA repair associated

ClinVar Annotator: match by term: Burkitt lymphoma

PMID:17262179 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31911673 More...

NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304

G

Bruton tyrosine kinase

ameliorates
treatment

Human cell line in a mouse model
mRNA:increased expression:multiple (human)

PMID:28474336 PMID:30546948

RGD:124713565, RGD:124715474

NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853

G

calreticulin

treatment

human cells and recombinant protein in a mouse model
human cell line and recombinant protein in a mouse model

RGD

PMID:9858521 PMID:10961892

RGD:150521687, RGD:150521702

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

G

chaperonin containing TCP1 subunit 6B

CTD Direct Evidence: marker/mechanism

NCBI chr10:67,652,461...67,701,385
Ensembl chr10:67,652,546...67,701,284

G

CD40 molecule

treatment

human cell line in a mouse model

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

CD79b molecule

treatment

human cells in mouse model

RGD

NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625

G

formimidoyltransferase cyclodeaminase

CTD Direct Evidence: marker/mechanism

NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735

G

G protein subunit alpha 13

CTD Direct Evidence: marker/mechanism

NCBI chr10:94,337,939...94,370,774
Ensembl chr10:94,337,725...94,370,774

G

inhibitor of DNA binding 3

CTD Direct Evidence: marker/mechanism

PMID:23143595 PMID:23143597

NCBI chr 5:148,372,784...148,374,353
Ensembl chr 5:148,372,762...148,374,349

G

microRNA 21

treatment

RGD

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

microRNA 23b

treatment

RGD

NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763

G

MLLT11, transcription factor 7 cofactor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:182,795,790...182,804,960
Ensembl chr 2:182,795,790...182,797,199

G

MYC proto-oncogene, bHLH transcription factor

OMIM:113970
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Burkitt lymphoma
DNA:mutations:exons:multiple (human)

MouseDO
CTD
ClinVar
OMIM
RGD

PMID:8220424 PMID:25157968 PMID:27993330 PMID:8220424 PMID:8397370

RGD:1601453, RGD:10059619

NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630

G

PBX homeobox 1

CTD Direct Evidence: marker/mechanism

PMID:1967982 PMID:17244677

NCBI chr13:80,278,766...80,588,563
Ensembl chr13:80,278,770...80,588,594

G

pyruvate carboxylase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380

G

phosphoinositide-3-kinase regulatory subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631

G

ret proto-oncogene

CTD Direct Evidence: marker/mechanism

NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176

G

spalt-like transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

CTD Direct Evidence: marker/mechanism

NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975

G

transcription factor 3

CTD Direct Evidence: marker/mechanism

PMID:1967982 PMID:17244677

NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314

diffuse large B-cell lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709

G

ATP binding cassette subfamily G member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409

G

ALK receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034

G

beta-2 microglobulin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766

G

BCAS2, pre-mRNA processing factor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:190,692,503...190,700,386
Ensembl chr 2:190,692,461...190,700,389

G

BCL2, apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

Bcl2-like 2

disease_progression

RGD

NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624

G

BCL6, transcription repressor

disease_progression

diffuse large B-cell lymphoma

RGD

PMID:11821949 PMID:15701085

RGD:1600111, RGD:11530023

NCBI chr11:76,854,090...76,877,389
Ensembl chr11:76,854,090...76,877,389

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

BRCA2, DNA repair associated

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:9150172 PMID:18489799 PMID:20104584 PMID:21138478 PMID:22798144 More...

NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567

G

Bruton tyrosine kinase

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:24869598 PMID:25082755 PMID:25189416 PMID:25741868 PMID:27199251 More...

NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853

G

caspase recruitment domain family, member 11

DNA:missense mutations:exons:multiple (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:25049379 PMID:26192916 PMID:18323416

NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112

G

catalase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

coiled-coil domain containing 86

CTD Direct Evidence: marker/mechanism

NCBI chr 1:207,590,167...207,596,547
Ensembl chr 1:207,590,168...207,596,544

G

CD22 molecule

treatment

RGD

NCBI chr 1:86,116,376...86,132,782
Ensembl chr 1:86,117,459...86,132,322

G

CD40 molecule

susceptibility

DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

CD79a molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935

G

CD79b molecule

severity
treatment

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
DNA:missense mutation:multiple, exon 5 (human)
DNA:missense mutation:multiple, exon 5-6 (human)
DNA:mutation:multiple (human)

CTD
ClinVar
RGD

PMID:11160144 PMID:21173233 PMID:31402495 PMID:31609782 PMID:25347427 More...

RGD:151665203, RGD:11075852, RGD:151665133, RGD:151665120

NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625

G

cyclin-dependent kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:19,266,226...19,281,417
Ensembl chr20:19,266,248...19,281,408

G

cyclin-dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

checkpoint kinase 2

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:16199547 PMID:21876083 PMID:24713400 PMID:28492532

NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286

G

clathrin heavy chain

CTD Direct Evidence: marker/mechanism

NCBI chr10:71,517,661...71,574,591
Ensembl chr10:71,517,663...71,573,737

G

CREB binding protein

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:24755471 PMID:28481359 PMID:30239046 PMID:33323405

NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888

G

dicer 1 ribonuclease III

disease_progression

RGD

NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:25363760 PMID:25741868 PMID:29900417 PMID:30478443 PMID:32581362 More...

NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687

G

ETS variant transcription factor 6

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20081860 PMID:28438623

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

Fas cell surface death receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fc gamma receptor 2A

disease_progression

DNA:SNP: :rs1801274 (human)

RGD

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

forkhead box O1

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:26314988 PMID:29721381 PMID:35079069

NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790

G

GLI family zinc finger 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251

G

glutathione S-transferase mu 1

treatment

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase pi 1

susceptibility

DNA:SNP: :(rs1695)(human)

RGD

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

glutathione S-transferase theta 1

severity

DNA:deletion:cds:

RGD

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

intercellular adhesion molecule 1

disease_progression

proteion:increased expression:serum:

RGD

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

interleukin 21 receptor

diffuse large B-cell lymphoma

RGD

NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522

G

inner mitochondrial membrane peptidase subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:58,070,035...58,970,165
Ensembl chr 6:58,070,283...58,969,840

G

interferon regulatory factor 4

disease_progression

RGD

NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070

G

lysine methyltransferase 2D

CTD Direct Evidence: marker/mechanism

NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325

G

MALT1 paracaspase

CTD Direct Evidence: marker/mechanism

NCBI chr18:58,942,282...58,996,318
Ensembl chr18:58,942,299...58,994,260

G

marker of proliferation Ki-67

disease_progression

RGD

NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762

G

methylenetetrahydrofolate reductase

susceptibility

DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human)

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630

G

MYD88, innate immune signal transduction adaptor

severity

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
DNA:missense mutation:L265P (human)
DNA:mutation:L265P, L265S (human)

CTD
ClinVar
RGD

PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:25049379 More...

RGD:151665203, RGD:11075852, RGD:151665120

NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415

G

nibrin

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:9590180 PMID:16415040 PMID:28492532

NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150

G

nectin cell adhesion molecule 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360

G

neurofibromin 1

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:21390130 PMID:22158541 PMID:23292937

NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658

G

NFKB inhibitor alpha

no_association

RGD

NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941

G

nucleolar protein with MIF4G domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:5,891,220...5,910,741
Ensembl chr 4:5,892,909...5,909,709

G

3-phosphoinositide dependent protein kinase-1

CTD Direct Evidence: marker/mechanism

NCBI chr10:13,105,435...13,182,664
Ensembl chr10:13,105,498...13,174,623

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta

CTD Direct Evidence: marker/mechanism

NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043

G

PMS1 homolog 2, mismatch repair system component

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066

G

PR/SET domain 1

disease_progression

RGD

NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488

G

peroxiredoxin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111

G

peroxiredoxin 4

CTD Direct Evidence: marker/mechanism

NCBI chr X:40,026,762...40,044,066
Ensembl chr X:40,026,651...40,044,066

G

protein arginine methyltransferase 5

CTD Direct Evidence: marker/mechanism

NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:10468583 PMID:10555148 PMID:10698513 PMID:10866302 PMID:10866658 More...

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

RAN GTPase activating protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:113,224,695...113,250,441
Ensembl chr 7:113,224,703...113,250,438

G

ribosomal protein S6 kinase B1

CTD Direct Evidence: marker/mechanism

NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908

G

SEC31 homolog A, COPII coat complex component

CTD Direct Evidence: marker/mechanism

NCBI chr14:9,214,324...9,269,281
Ensembl chr14:9,214,349...9,269,273

G

splicing factor 3A subunit 1

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:22037554 PMID:26498691 PMID:33563892

NCBI chr14:79,031,394...79,052,144
Ensembl chr14:79,031,394...79,052,144

G

S-phase kinase associated protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338

G

SMAD specific E3 ubiquitin protein ligase 2

NCBI chr10:91,761,798...91,862,485
Ensembl chr10:91,761,807...91,862,488

G

suppressor of cytokine signaling 1

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:19734449 PMID:23296022 PMID:26336985 PMID:28302137 PMID:29625055

NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

superoxide dismutase 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990

G

signal transducer and activator of transcription 3

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:21690253 PMID:22591296 PMID:22859607 PMID:23926297 PMID:25873174 More...

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

spleen associated tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr17:12,604,615...12,678,437
Ensembl chr17:12,604,619...12,661,410

G

TBL1X/Y related 1

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:9450851 PMID:16492805 PMID:21156281 PMID:21156282 PMID:25741868 More...

NCBI chr 2:104,788,950...104,929,055
Ensembl chr 2:104,801,721...104,929,055

G

tumor protein p53

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

MouseDO
ClinVar

PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More...

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

thioredoxin interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886

extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL10, immune signaling adaptor

ClinVar Annotator: match by term: MALT lymphoma

PMID:9989495 PMID:10380920 PMID:10408400

NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523

G

baculoviral IAP repeat-containing 3

treatment

DNA:gene fusion: (human)

RGD

NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802

G

C-X-C motif chemokine receptor 4

protein:increased expression: mucosa-associated lymphoid tissue (human)

RGD

NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883

G

RT1 class II, locus Ba

treatment

associated with Helicobacter Infections; DNA:polymorphim, haplotype: :HLA-DQA1*0103 (human)

RGD

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

follicular lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase H+ transporting accessory protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034

G

ATPase H+ transporting V1 subunit B2

CTD Direct Evidence: marker/mechanism

NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745

G

BCL10, immune signaling adaptor

ClinVar Annotator: match by term: Follicular lymphoma

NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523

G

BCL2, apoptosis regulator

susceptibility

DNA:translocation: ;t(14;18)(q32;q21)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:3287162 PMID:12855623 PMID:16671111 PMID:3287162

RGD:1599473, RGD:734639

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

CD40 molecule

susceptibility

DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

human gene in a mouse model

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

CD79b molecule

treatment

human cells in mouse model

RGD

NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625

G

CREB binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888

G

EBF transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:29,095,858...29,489,142
Ensembl chr10:29,099,933...29,487,665

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

interferon regulatory factor 4

severity

RGD

NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070

G

3-ketodihydrosphingosine reductase

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:25526675 PMID:8417785

NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108

G

lysine methyltransferase 2D

CTD Direct Evidence: marker/mechanism

NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

5-methyltetrahydrofolate-homocysteine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822

G

MYD88, innate immune signal transduction adaptor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415

G

retinoic acid receptor responder 1

OMIM:151430

NCBI chr 2:151,749,715...151,783,975
Ensembl chr 2:151,749,715...151,783,978

G

Ras-related GTP binding C

CTD Direct Evidence: marker/mechanism

NCBI chr 5:136,148,239...136,167,773
Ensembl chr 5:136,148,276...136,167,767

G

TNF alpha induced protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536

JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nuclear factor of activated T-cells 2

NCBI chr 3:157,195,970...157,328,640
Ensembl chr 3:157,198,872...157,328,325

Lymphoma, AIDS-Related

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activation-induced cytidine deaminase

disease_progression

RGD

NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972

G

colony stimulating factor 2

CTD Direct Evidence: therapeutic

PMID:7680712 PMID:9817281

NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

G

syndecan 1

protein:altered expression:tumor (human)

RGD

NCBI chr 6:31,562,799...31,585,267
Ensembl chr 6:31,562,739...31,585,264

G

transferrin receptor

treatment

RGD

NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257

lymphoplasmacytic lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-X-C motif chemokine receptor 4

disease_progression

DNA:mutation:cds:1013C>G(p.S338X)(human)

RGD

NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883

G

Fc gamma receptor 3A

disease_progression
treatment

DNA:polymorphism: :
DNA:SNP:exon:p.F158V (rs396991) (human)

RGD

PMID:21564078 PMID:15659493

RGD:11040774, RGD:11352262

NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921

G

glutathione peroxidase 3

protein:increased expression:bone marrow

RGD

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

G

interleukin 10

DNA:SNPs: :multiple

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 6

no_association

DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human)
DNA:SNPs: :multiple

RGD

PMID:19573080 PMID:19573080

RGD:11049165, RGD:11049165

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

interferon regulatory factor 4

RGD

NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070

G

MYD88, innate immune signal transduction adaptor

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macroglobulinemia, Waldenstrom, somatic

CTD
ClinVar
OMIM

PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More...

NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415

mantle cell lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylate kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041

G

Rho GTPase activating protein 29

CTD Direct Evidence: marker/mechanism

NCBI chr 2:210,060,036...210,132,572
Ensembl chr 2:210,071,199...210,132,028

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Mantle cell lymphoma

PMID:10706620 PMID:23807571 PMID:25614872 PMID:28492532

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

Bruton tyrosine kinase

treatment

RGD

NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853

G

similar to human chromosome 11 open reading frame 65

ClinVar Annotator: match by term: Mantle cell lymphoma

PMID:10706620 PMID:28492532

NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748

G

coiled-coil domain containing 50

RGD

NCBI chr11:73,332,798...73,395,333
Ensembl chr11:73,334,248...73,395,150

G

cyclin D1

mRNA:increased expression:bone marrow, peripheral blood (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22383795 PMID:26174628 PMID:24060591

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

CD79b molecule

treatment

protein:decreased expression:blood, B cell (human)
human cells in mouse model

RGD

PMID:10329919 PMID:17374736

RGD:11531139, RGD:151665154

NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625

G

catenin beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

eukaryotic translation initiation factor 4E

CTD Direct Evidence: marker/mechanism

NCBI chr 2:227,066,519...227,099,261
Ensembl chr 2:227,066,673...227,098,683

G

eukaryotic translation initiation factor 4E binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984

G

glycogen synthase kinase 3 beta

CTD Direct Evidence: marker/mechanism

NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646

G

mechanistic target of rapamycin kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta

CTD Direct Evidence: marker/mechanism

NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930

G

PRAME like, X-linked 1

protein:increased expression:mononuclear cell (human)

RGD

NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096

G

TNF receptor superfamily member 10b

susceptibility

DNA:missense mutation:cds:p.E228A (c.683A>C) (human)
DNA:SNP:exon:626C>G, 1322A>G (human)

RGD

PMID:16217763 PMID:15531454

RGD:11038717, RGD:11038718

NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467

G

Wnt family member 10A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400

G

Wnt family member 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:88,680,198...88,724,170
Ensembl chr10:88,680,248...88,724,099

marginal zone lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL10, immune signaling adaptor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523

G

growth factor independent 1 transcriptional repressor

disease_progression

RGD

NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814

G

RT1 class II, locus Ba

associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQA1*0103 (human)

RGD

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQB1*0601 (human)

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

tumor protein p53

GAD

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

monoclonal gammopathy of uncertain significance

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytotoxic T-lymphocyte-associated protein 4

susceptibility

DNA:microsatellite polymorphism:exon: :

RGD

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

MYD88, innate immune signal transduction adaptor

NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415

G

neurofilament heavy chain

associated with Peripheral Nervous System Diseases

RGD

NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351

multiple myeloma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 2

treatment

RGD

PMID:26314844 PMID:16917002

RGD:11081075, RGD:11081144

NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409

G

angiotensin I converting enzyme

protein:increased activity:serum

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

albumin

disease_progression

RGD

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

alkB homolog 5, RNA demethylase

CTD Direct Evidence: marker/mechanism

NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331

G

apolipoprotein E

treatment

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

AT-rich interaction domain 4A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:89,522,459...89,593,868
Ensembl chr 6:89,522,442...89,593,510

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

aurora kinase A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390

G

beta-2 microglobulin

ClinVar Annotator: match by term: Myelomatosis
protein:increased expression:serum

PMID:26619011 PMID:32856850

NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766

G

Brca1 associated protein 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535

G

BRCA1 associated RING domain 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265

G

BCL2, apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

Bcl2-like 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12429644 PMID:14656874

NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479

G

Bcl2-like 10

protein:increased expression:bone marrow :

RGD

NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367

G

BCL6 co-repressor-like 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087

G

BCL2 interacting protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis

PMID:2493360 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 More...

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

BTG anti-proliferation factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:31,341,391...31,343,649
Ensembl chr 7:31,341,027...31,343,649

G

Cbl proto-oncogene

mRNA:decreased expression:mononuclear cell:

RGD

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

G

chromobox 7

susceptibility

DNA:snp:intron:c.113+3502C>T (human) (rs877529)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23955597 PMID:23955597

NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

cellular communication network factor 1

exacerbates

mRNA, protein:increased expression:bone marrow (human)
mRNA,protein:increased expression:bone marrow (human)

RGD

PMID:28035364 PMID:25061178

RGD:329845528, RGD:329845546

NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484

G

cyclin D1

susceptibility

DNA:snp:exon:c.870G>A (rs603965) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO

CTD
ClinVar
OMIM
RGD

PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More...

RGD:1581171, RGD:11353784

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

cyclin D2

RGD

NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495

G

cyclin D3

RGD

NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371

G

CD40 molecule

treatment

human cells in a mouse model

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

treatment
disease_progression

protein:increased expression:serum (human)

RGD

PMID:15565183 PMID:22403003 PMID:27243341

RGD:11352240, RGD:11352251, RGD:11352268

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

CD46 molecule

protein:increased expression:plasma cell (human)

RGD

NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445

G

CD86 molecule

severity

protein:increased expression:bone marrow, plasma cell (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16611307 PMID:22705596

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

cyclin-dependent kinase 4

ClinVar Annotator: match by term: Multiple myeloma

PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More...

NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403

G

cyclin-dependent kinase inhibitor 2A

disease_progression

DNA:hypermethylation::
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16008847 PMID:12681979

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 5:124,411,123...124,416,278
Ensembl chr 5:124,411,124...124,416,278

G

complement factor H-related 1

treatment

RGD

NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592

G

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

RGD

NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787

G

cereblon

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:139,701,154...139,719,949
Ensembl chr 4:139,701,094...139,719,938

G

CREB binding protein

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888

G

colony stimulating factor 2

CTD Direct Evidence: therapeutic

PMID:7540856 PMID:8104070 PMID:8555506

NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

PMID:7534716 PMID:7540856

NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

G

cytotoxic T-lymphocyte-associated protein 4

susceptibility

DNA:microsatellite polymorphism:exon: :

RGD

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658

G

cytochrome P450, family 1, subfamily a, polypeptide 1

susceptibility

DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human)

RGD

NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125

G

cytochrome P450, family 2, subfamily C, polypeptide 6

treatment
no_association

DNA:polymorphisms: :

RGD

PMID:17666363 PMID:20684753

RGD:11352748, RGD:11352804

NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596

G

cytochrome P450, family 2, subfamily d, polypeptide 4

no_association

DNA:polymorphisms: :

RGD

NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759

G

DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687

G

desmoglein 2

disease_progression

RGD

NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156

G

eukaryotic translation initiation factor 1A, X-linked

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335

G

endoglin

severity

protein:increased expression:serum:

RGD

NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230

G

epoxide hydrolase 1

no_association
susceptibility

DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:SNP:exon:rs2234922 (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16949155 PMID:19736056 PMID:16949155 PMID:24521996

RGD:11252116, RGD:11252121, RGD:11252122

NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

DNA:SNP: :rs735482 (human)

RGD

NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963

G

ERCC excision repair 2, TFIIH core complex helicase subunit

disease_progression
sexual_dimorphism

DNA:polymorphism: :p.K751Q (rs13181) (human)
DNA:SNP:exon 23:p.K751Q (rs1052559)(Human)

RGD

PMID:22183071 PMID:17131345

RGD:11252199, RGD:401827277

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

Ets2 repressor factor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388

G

Fas ligand

disease_progression

RGD

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107

G

Fc gamma receptor 2A

disease_progression
susceptibility

DNA:polymorphism: :rs1801274(human)

RGD

PMID:25850245 PMID:17315188

RGD:11040778, RGD:11040938

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myelomatosis

PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More...

NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

fibrinogen gamma chain

treatment

RGD

NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322

G

Fms related receptor tyrosine kinase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474

G

Fms related receptor tyrosine kinase 3 ligand

disease_progression

protein:increased expression:serum:

RGD

NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463

G

FTO, alpha-ketoglutarate dependent dioxygenase

mRNA:increased expression:bone marrow

RGD

NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083

G

glutathione peroxidase 1

RGD

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

glutathione peroxidase 3

disease_progression

DNA:hypermethylation: :

RGD

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

G

glutathione S-transferase mu 1

severity
no_association

RGD

PMID:17653713 PMID:15136237

RGD:10450826, RGD:10450846

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase pi 1

disease_progression
no_association
treatment

DNA:polymorphism:cds:p.I105V(human)
DNA:polymorphism: :

RGD

PMID:23953887 PMID:18061666 PMID:17512053

RGD:10755413, RGD:10755419, RGD:11075094

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

glutathione S-transferase theta 1

susceptibility
no_association

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16949155 PMID:15136237 PMID:12624497

RGD:10450846, RGD:10450847

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

H19 imprinted maternally expressed transcript

severity

RNA:decrased expression:blood serum (human)

RGD

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

H1.4 linker histone, cluster member

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403

G

H3 clustered histone 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr17:41,368,379...41,368,902
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856

G

histone deacetylase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164

G

homeostatic iron regulator

susceptibility

DNA:missense mutation, haplotype:cds:p.C282Y (human)

RGD

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

hexokinase 1

RGD

NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Myelomatosis
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743

G

intercellular adhesion molecule 1

treatment

protein:increased expression:serum:

RGD

PMID:7834632 PMID:7686390

RGD:11354981, RGD:11520780

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Myelomatosis

PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More...

NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Myelomatosis

PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 More...

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

insulin-like growth factor 2 receptor

protein:increased expression:serum,urine:

RGD

NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501

G

interleukin 10

disease_progression

DNA:SNP, polymorphisms:promoter:-1082G>A, (human)
protein:increased expression:serum

RGD

PMID:11307152 PMID:11022130

RGD:11041888, RGD:11049458

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 1 alpha

DNA:SNP:promoter:-511C>T (human)
DNA:SNP:promoter:-889C>T (human)

RGD

PMID:25469832 PMID:17926179 PMID:1777241

RGD:11049156, RGD:11051973, RGD:11059513

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human)

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

no_association

DNA:snp: :11100C>T (human)
DNA:repeats:intron:

RGD

PMID:17926179 PMID:10848780

RGD:11051973, RGD:11522764

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 4 receptor

susceptibility

DNA:SNP: :-228120T>C(rs2107356)(human)

RGD

NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980

G

interleukin 6

CTD Direct Evidence: marker/mechanism

PMID:8520508 PMID:12855565 PMID:19330649

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

interleukin 7 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757

G

interferon regulatory factor 4

disease_progression
treatment

DNA:translocation
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18568025 PMID:10557056 PMID:17690696 PMID:21707574

RGD:11526161, RGD:11530019, RGD:11530055

NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070

G

interferon regulatory factor 8

DNA:hypermethylation

RGD

NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829

G

lysine demethylase 5C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870

G

lysine methyltransferase 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Multiple myeloma

PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 More...

NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis

PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More...

NCBI chr 4:178,185,418...178,218,484

G

large tumor suppressor kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640

G

DNA ligase 4

DNA:polymorphisms
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis

OMIM
CTD
ClinVar
RGD

PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:24033266 More...

NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

G

MAF bZIP transcription factor

OMIM:254500

NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365

G

MCL1 apoptosis regulator, BCL2 family member

CTD Direct Evidence: marker/mechanism

NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303

G

MEFV innate immunity regulator, pyrin

susceptibility

DNA:polymorphisms:cds:p.E148Q,M694V(human)

RGD

NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973

G

MET proto-oncogene, receptor tyrosine kinase

RGD

NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876

G

methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 2:211,530,598...211,546,845
Ensembl chr 2:211,530,602...211,546,821

G

methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041

G

MAX dimerization protein MGA

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043

G

microRNA 155

disease_progression

miRNA:decreased expression:serum

RGD

PMID:25497370 PMID:28446295

RGD:21079441, RGD:24922226

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

microRNA 17

disease_progression

miRNA:increased expression:plasma cell

RGD

NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712

G

microRNA 19a

CTD Direct Evidence: marker/mechanism

NCBI chr15:92,180,912...92,180,993
Ensembl chr15:92,180,912...92,180,993

G

microRNA 27a

CTD Direct Evidence: marker/mechanism

NCBI chr19:23,954,831...23,954,917
Ensembl chr19:23,954,831...23,954,917

G

microRNA 320a

ameliorates

human gene in mouse model

RGD

NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473

G

microRNA 92a-1

CTD Direct Evidence: marker/mechanism

NCBI chr15:92,181,336...92,181,413
Ensembl chr15:92,181,336...92,181,413

G

macrophage stimulating 1 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455

G

methylenetetrahydrofolate reductase

DNA:missense mutations:cds:677C>T, 1298A>C (human)

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

DNA:polymorphism: :2756A>G(human)

RGD

NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

DNA:polymorphism: :66G>A(human)

RGD

NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425

G

mucin 1, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733

G

MYD88, innate immune signal transduction adaptor

ClinVar Annotator: match by term: Myelomatosis

PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More...

NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415

G

nuclear receptor co-repressor 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319

G

neurofibromin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658

G

NFKB inhibitor alpha

RGD

PMID:16540234 PMID:12377412

RGD:2298898, RGD:2298895

NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941

G

NK2 homeobox 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791

G

non-POU domain containing, octamer-binding

exacerbates

mRNA:increased expression: (human)

RGD

NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952

G

notch receptor 2

protein:increased expression:bone marrow (human)

RGD

NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088

G

NADPH oxidase 1

protein:increased expression:serum

RGD

NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236

G

NAD(P)H quinone dehydrogenase 1

no_association

DNA:missense mutation:cds:p.P187S (human)
DNA:missense mutation:cds:p.P187S (609C>T) (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16949155 PMID:18156703 PMID:18061666

RGD:10769348, RGD:10755419

NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557

G

NRAS proto-oncogene, GTPase

treatment

DNA:mutation: :
ClinVar Annotator: match by term: Myelomatosis

PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More...

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

NUAK family kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:19,330,034...19,401,918
Ensembl chr 7:19,329,933...19,401,913

G

poly (ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404

G

platelet factor 4

ameliorates

RGD

NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha

ClinVar Annotator: match by term: Myelomatosis

PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More...

NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

phosphoinositide-3-kinase regulatory subunit 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065

G

PML nuclear body scaffold

severity

protein:increased expression:bone marrow (human)

RGD

NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971

G

RNA polymerase I subunit G

sexual_dimorphism

DNA:SNP:exon 1: p.G-21A (rs967591) (human)

RGD

NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766

G

paraoxonase 1

severity
treatment
susceptibility

protein:decreased activity:serum (human)
DNA:missense mutation:cds:p.Q192R (human)

RGD

PMID:25520116 PMID:22348216 PMID:15136237

RGD:11552578, RGD:11040544, RGD:10450846

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

PRAME like, X-linked 1

severity

associated with bortezomib treatment;mRNA:increased expression:bone marrow (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16179254 PMID:24791872

NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096

G

protein arginine methyltransferase 5

CTD Direct Evidence: marker/mechanism

NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296

G

psoriasis susceptibility 1 candidate 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,202,178...3,203,599
Ensembl chr20:3,202,174...3,203,599

G

parathyroid hormone-like hormone

CTD Direct Evidence: marker/mechanism

NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847

G

protein tyrosine phosphatase, non-receptor type 11

ClinVar Annotator: match by term: Myelomatosis

PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More...

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

RAN binding protein 2

mRNA:increased expression:bone marrow, plasma cell (human)

RGD

NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481

G

RB binding protein 8, endonuclease

exacerbates

mRNA:increased expression:bone marrow, plasma cell (human)

RGD

NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846

G

retinol binding protein 1

disease_progression

DNA:hypermethylation: :

RGD

NCBI chr 8:99,025,218...99,046,740
Ensembl chr 8:99,025,206...99,046,743

G

RecQ like helicase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619

G

roundabout guidance receptor 1

ameliorates

RGD

NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203

G

RT1 class I, locus CE16

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563

G

RUNX family transcription factor 1

mRNA:splice variant

RGD

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

retinoid X receptor alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386

G

serum/glucocorticoid regulated kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:22,980,257...23,098,122
Ensembl chr 1:22,980,261...23,098,283

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15908783 PMID:15908783

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

secreted protein acidic and cysteine rich

disease_progression

CTD Direct Evidence: marker/mechanism
DNA:hypermethylation: :

CTD
RGD

PMID:18172295 PMID:23699600

NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396

G

secreted phosphoprotein 1

RGD

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

transcription factor 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314

G

telomerase reverse transcriptase

RGD

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534

G

tet methylcytosine dioxygenase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193

G

transferrin receptor

treatment

RGD

NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257

G

transforming growth factor, beta 1

disease_progression

DNA:hypermethylation: :
protein:decreased expression:serum:

RGD

PMID:23699600 PMID:22560388

RGD:11073605, RGD:11073614

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

tumor necrosis factor

treatment
no_association

DNA:SNP:promoter:-238G>A (human)
DNA:SNP:promoter:-308G>A (human)

RGD

PMID:12200397 PMID:12815949

RGD:10449450, RGD:10449453

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 10b

treatment

RGD

NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467

G

TNF receptor superfamily member 13B

CTD Direct Evidence: marker/mechanism

NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987

G

TNF receptor superfamily member 17

RGD

NCBI chr10:4,301,023...4,306,889
Ensembl chr10:4,301,038...4,306,788

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421

G

tumor protein p53

disease_progression
treatment

DNA:polymorphism:cds:p.R72P(human)
protein:increased expression:nucleus:
DNA:deletion: :
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis

PMID:253702 PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 More...

RGD:11073716, RGD:11073728, RGD:11075073

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

tRNA nucleotidyl transferase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611

G

thymidylate synthetase

treatment
no_association

DNA:polymorphism: :
DNA:repeats:5'UTR:

RGD

PMID:17512053 PMID:17655928

RGD:11075094, RGD:11075095

NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536

G

unc-51 like kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 8:120,670,879...120,966,026
Ensembl chr 8:120,670,866...120,966,924

G

vascular endothelial growth factor A

susceptibility

DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human)

RGD

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

xanthine dehydrogenase

protein:increased expression:serum

RGD

NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268

G

exportin 5

severity

DNA:snp:3' utr:c.*659A>C (rs11077) (human)

RGD

NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171

G

X-ray repair cross complementing 3

disease_progression

DNA:SNP,haplotype:: p.T241M (rs861535) (Human)

RGD

NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444

G

X-ray repair cross complementing 4

susceptibility

DNA:SNPs:multiple (human)

RGD

NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808

G

X-ray repair cross complementing 5

susceptibility

DNA:SNP:3'-UTR (human)

RGD

NCBI chr 9:73,955,216...74,044,020
Ensembl chr 9:73,955,216...74,044,018

G

Yes1 associated transcriptional regulator

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010

G

YTH N6-methyladenosine RNA binding protein F1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172

G

YY1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747

plasma cell leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 molecule

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

telomerase reverse transcriptase

RGD

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

plasma cell neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

beta-2 microglobulin

ClinVar Annotator: match by term: Plasma cell dyscrasia

NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766

G

Bcl2-like 1

severity

RGD

NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More...

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More...

NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More...

NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 More...

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More...

NCBI chr 4:178,185,418...178,218,484

G

DNA ligase 4

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:11779494 PMID:15333585 PMID:16088910 PMID:24123394 PMID:24759409 More...

NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

G

MYD88, innate immune signal transduction adaptor

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More...

NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More...

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More...

NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

protein tyrosine phosphatase, non-receptor type 11

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More...

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

tumor protein p53

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:253702 PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 More...

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

plasmacytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activation-induced cytidine deaminase

treatment

RGD

NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972

G

BCL2, apoptosis regulator

susceptibility

human gene in a mouse model

RGD

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

cyclin-dependent kinase inhibitor 2A

RGD

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

interleukin 10

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

roundabout guidance receptor 1

ameliorates

RGD

NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203

G

tumor necrosis factor

treatment

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

Schnitzler syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 1 alpha

RGD

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 receptor antagonist

susceptibility

CTD Direct Evidence: therapeutic

CTD
RGD

PMID:16096327 PMID:16096327

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

splenic marginal zone lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD79b molecule

protein:decreased expression:blood, B cell (human)

RGD

NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625

Term paths to the root

Path 1
Term	Annotations
disease	21126
disease of anatomical entity	18216
hematopoietic system disease	3339
leukocyte disease	1309
B-cell lymphoma	348
B-lymphoblastic leukemia/lymphoma +	121
JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA	1
Lymphoma, AIDS-Related	5
Primary Effusion Lymphoma	0
composite lymphoma	0
follicular lymphoma	20
large B-cell lymphoma +	74
lymphomatoid granulomatosis +	0
lymphoplasmacytic lymphoma	7
mantle cell lymphoma	18
marginal zone lymphoma +	8
mature B-cell neoplasm +	199
Path 2
Term	Annotations
disease	21126
disease of cellular proliferation	7670
cancer	5489
organ system cancer	5243
immune system cancer	668
lymphatic system cancer	668
lymphoma	580
non-Hodgkin lymphoma	490
B-cell lymphoma	348
B-lymphoblastic leukemia/lymphoma +	121
JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA	1
Lymphoma, AIDS-Related	5
Primary Effusion Lymphoma	0
composite lymphoma	0
follicular lymphoma	20
large B-cell lymphoma +	74
lymphomatoid granulomatosis +	0
lymphoplasmacytic lymphoma	7
mantle cell lymphoma	18
marginal zone lymphoma +	8
mature B-cell neoplasm +	199

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