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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Immunoproliferative Disorders
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Accession:DOID:9008463 term browser browse the term
Definition:Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins.
Synonyms:exact_synonym: Immunoproliferative Disorder
 primary_id: MESH:D007160;   RDO:0005837
For additional species annotation, visit the Alliance of Genome Resources.


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acute leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified ClinVar PMID:7585650, PMID:9195225, PMID:22234153, PMID:23221806, PMID:23232694, PMID:24728327, PMID:25716912, PMID:25741868, PMID:30311386 NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
acute lymphoblastic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:snps, haplotype:multiple (human)
CTD
RGD
PMID:22674224 RGD:8657089 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 treatment ISO DNA:SNPs: :rs717620(human)
DNA:SNP:5'UTR:rs717620(human)
RGD PMID:24404132, PMID:25007187 RGD:11080959, RGD:11080979 NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,656...111,078,873
JBrowse link
G ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 disease_progression ISO mRNA:increased expression:mononuclear cell: RGD PMID:12100141, PMID:15521915 RGD:11081076, RGD:11081143 NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,775,472...130,998,660
JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11984797, PMID:21898527 NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,711
JBrowse link
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase susceptibility ISO RGD PMID:17065136 RGD:11100012 NCBI chr 1:272,912,239...272,935,316 JBrowse link
G AICDA activation induced cytidine deaminase treatment ISO RGD PMID:19759560 RGD:11039451 NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,483
JBrowse link
G ARID5B AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684603, PMID:19684604 NCBI chr14:65,408,603...65,598,485
Ensembl chr14:65,408,597...65,598,486
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 4:98,333,431...98,390,012
Ensembl chr 4:98,333,459...98,404,961
JBrowse link
G BAX BCL2 associated X, apoptosis regulator susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,187,260...54,228,144
JBrowse link
G BCL2 BCL2 apoptosis regulator severity ISO mRNA:increased expression:bone marrow (human) RGD PMID:25982455 RGD:11076595 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
G BCL2L1 BCL2 like 1 treatment ISO mRNA:increased expression:blood, mononuclear cell (human) RGD PMID:12469194, PMID:19020783 RGD:11353852, RGD:11353866 NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,141...35,415,359
JBrowse link
G BCR BCR activator of RhoGEF and GTPase susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,109
JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: therapeutic CTD PMID:22010212 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,470
JBrowse link
G CAST calpastatin ISO protein:increased expresssion:B cell RGD PMID:11264179 RGD:5509822 NCBI chr 2:103,255,738...103,378,623
Ensembl chr 2:103,255,630...103,378,623
JBrowse link
G CCND1 cyclin D1 ISO mRNA:increased expression:bone marrow (human) RGD PMID:22391157 RGD:11352824 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:9292526 RGD:11352271 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CD46 CD46 molecule, complement regulatory protein ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:16353080 RGD:11352810 NCBI chr 9:135,025,439...135,078,910 JBrowse link
G CD79B CD79b molecule ISO protein:decreased expression:bone marrow, mononuclear cell (human) RGD PMID:21487112 RGD:11250414 NCBI chr12:15,052,966...15,056,441
Ensembl chr12:15,053,007...15,056,441
JBrowse link
G CD86 CD86 molecule severity ISO protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human) RGD PMID:24283754 RGD:11354967 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,525...138,504,310
JBrowse link
G CDK6 cyclin dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24736461 NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129
JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684604 NCBI chr 7:75,926,652...75,929,949
Ensembl chr 7:75,927,662...75,929,771
JBrowse link
G CFB complement factor B ISO DNA:missense mutation:p.R32Q b(human) RGD PMID:6958349 RGD:11041155 NCBI chr 7:24,034,077...24,040,523 JBrowse link
G CREBBP CREB binding protein disease_progression ISO DNA:mutations:multiple RGD PMID:25917266 RGD:11060149 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,230
JBrowse link
G CRLF2 cytokine receptor-like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194
G CSF3 colony stimulating factor 3 treatment ISO RGD PMID:9250830 RGD:11039038 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,445...22,342,163
JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 severity ISO RGD PMID:8562939 RGD:734840 NCBI chr 7:57,949,182...57,988,602
Ensembl chr 7:57,949,455...57,988,337
JBrowse link
G CYBA cytochrome b-245 alpha chain ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:19222940 RGD:11040545 NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,154...1,021,418
JBrowse link
G CYP1A1 cytochrome P450 1A1 susceptibility
no_association
ISO DNA:polymorphism:3"UTR:rs4646903(human)
DNA:polymorphism:cds:2452C>A(p.T461N)(human)
DNA:polymorphism:3'UTR:3801T>C(human)
RGD PMID:16676594, PMID:22964275, PMID:23725389 RGD:11352714, RGD:11352725, RGD:11352728 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,780,105...58,809,755
JBrowse link
G CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100
JBrowse link
G CYP2D25 vitamin D3 25-Hydroxylase susceptibility ISO DNA:polymorphisms: :
DNA:SNP,deletion:splice junction,exon:1934G>A(human)
RGD PMID:11037802, PMID:19593802 RGD:11252111, RGD:11352820 NCBI chr 5:6,539,021...6,543,643
Ensembl chr 5:6,538,907...6,543,643
JBrowse link
G CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11774269 NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,818
JBrowse link
G DHFR dihydrofolate reductase disease_progression ISO DNA:polymorphisms, haplotype:promoter:
DNA:polymorphisms: :-317A>G, 829C>T (human)
RGD PMID:9226157, PMID:12972803, PMID:19861437, PMID:22969948 RGD:11039542, RGD:11039543, RGD:11039544, RGD:11039545 NCBI chr 2:89,230,660...89,255,830 JBrowse link
G DNMT3A DNA methyltransferase 3 alpha treatment ISO DNA:mutations:exon, intron:p.R882(human) RGD PMID:25242092 RGD:11041125 NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,609,139
JBrowse link
G DNTT DNA nucleotidylexotransferase ISO protein:increased activity:peripheral blood,bone marrow: RGD PMID:7020399 RGD:8694149 NCBI chr14:107,750,796...107,784,626
Ensembl chr14:107,750,796...107,784,626
JBrowse link
G DPYD dihydropyrimidine dehydrogenase no_association
disease_progression
ISO DNA:SNP: :85T>C (human)
DNA:SNPs: :2194G>A, 1156G>T (human)
DNA:splice-site mutation:intron:IVS14+1G>A (human)
RGD PMID:26846104 RGD:11098453 NCBI chr 4:119,931,471...120,712,461
Ensembl chr 4:119,931,458...120,712,462
JBrowse link
G ENG endoglin disease_progression ISO RGD PMID:17572488 RGD:11041565 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,306,120...268,343,827
JBrowse link
G EPHX1 epoxide hydrolase 1 susceptibility
no_association
ISO DNA:missense mutation, haplotype:exon:p.H139R (human)
DNA:polymorphisms:exon
DNA:SNPs:exon:rs1051740, rs2234922 (human)
DNA:missense mutation, haplotype:exon:p.Y113H (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19593802, PMID:21983886, PMID:22200898, PMID:22930568 RGD:11252110, RGD:11252111, RGD:11252113, RGD:11252114 NCBI chr10:13,757,489...13,773,071
Ensembl chr10:13,735,170...13,773,071
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:SNPs: :8092C>A, 19007G>A (human)
DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human)
RGD PMID:16435384, PMID:16723154 RGD:11252160, RGD:11340204 NCBI chr 6:51,783,537...51,808,898 JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit no_association ISO DNA:haplotype
DNA:missense mutations: :p.D312N, p.K751Q (human)
RGD PMID:19101034, PMID:21987080 RGD:11252192, RGD:11340201 NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
G ERG ETS transcription factor ERG ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776115 NCBI chr13:201,999,237...202,302,572
Ensembl chr13:202,000,985...202,302,577
JBrowse link
G ETV6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute lymphoid leukemia
CTD
ClinVar
PMID:17255265 NCBI chr 5:60,523,530...60,776,792
Ensembl chr 5:60,394,656...60,776,750
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:8429686 RGD:11340211 NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,992...122,837,672
JBrowse link
G FAS Fas cell surface death receptor disease_progression ISO protein:increased expression:CD34+ bone marrow cell RGD PMID:9711907, PMID:10500800 RGD:11049148, RGD:11049157 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FGA fibrinogen alpha chain ISO protein:increased expression:serum (human) RGD PMID:25317080 RGD:11040558 NCBI chr 8:74,574,870...74,584,202
Ensembl chr 8:74,574,882...74,584,202
JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 susceptibility ISO ClinVar Annotator: match by term: Acute lymphocytic leukemia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11290608, PMID:11442493, PMID:14604974, PMID:14670924, PMID:15256420, PMID:16857985, PMID:17606455, PMID:17889720, PMID:19657110, PMID:20733134, PMID:22368270, PMID:22504183, PMID:22504184, PMID:23261068, PMID:23321257, PMID:23430109, PMID:23714533, PMID:23783394, PMID:24046014, PMID:25157968 NCBI chr11:5,370,475...5,455,439
Ensembl chr11:5,361,788...5,455,359
JBrowse link
G FPGS folylpolyglutamate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25013492 NCBI chr 1:268,281,298...268,309,397
Ensembl chr 1:268,287,729...268,309,411
JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:blood: RGD PMID:19360458 RGD:11040460 NCBI chr 1:272,701,386...272,715,551
Ensembl chr 1:272,701,927...272,715,539
JBrowse link
G GNB1 G protein subunit beta 1 susceptibility ISO ClinVar Annotator: match by term: Acute lymphoid leukemia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25485910, PMID:27108799 NCBI chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,155...63,924,535
JBrowse link
G GPI glucose-6-phosphate isomerase ISO RGD PMID:6589021 RGD:11051848 NCBI chr 6:44,038,374...44,069,331
Ensembl chr 6:43,933,759...44,069,330
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:17317918, PMID:24698347 RGD:11352774, RGD:11352812 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,914,932...31,917,335
JBrowse link
G GSR glutathione-disulfide reductase ISO RGD PMID:24191316 RGD:11059506 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,989
JBrowse link
G H1-2 H1.2 linker histone, cluster member susceptibility ISO DNA:SNP, haplotype:enhancer: (rs807212) (human) RGD PMID:19806355 RGD:10755490 NCBI chr 7:20,743,716...20,744,356
Ensembl chr 7:20,743,716...20,744,356
JBrowse link
G HCK HCK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17344919 NCBI chr17:35,708,549...35,751,590
Ensembl chr17:35,709,348...35,751,588
JBrowse link
G HDAC1 histone deacetylase 1 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,412
JBrowse link
G HDAC2 histone deacetylase 2 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
JBrowse link
G HDAC4 histone deacetylase 4 treatment ISO RGD PMID:23948281 RGD:9681454 NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,627...138,614,301
JBrowse link
G HFE homeostatic iron regulator no_association ISO DNA:missense mutation:cds:p.C282Y (human)
DNA:missense mutation:cds:p.H63D (human)
DNA:missense mutation: :p.H63D (human)
RGD PMID:10627122, PMID:17107905 RGD:10755557, RGD:10755558 NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,768,741
JBrowse link
G HK1 hexokinase 1 ISO protein:decreased activity:platelet RGD PMID:21921332 RGD:11353881 NCBI chr14:72,383,328...72,460,927
Ensembl chr14:72,351,149...72,460,925
JBrowse link
G HLF HLF transcription factor, PAR bZIP family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr12:31,589,337...31,643,595
Ensembl chr12:31,589,337...31,643,596
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,152...111,362,280
JBrowse link
G IFNG interferon gamma susceptibility ISO DNA:SNP: :rs2069727(human) RGD PMID:21067287 RGD:10755691 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LEUKEMIA, ACUTE LYMPHOCYTIC, SUSCEPTIBILITY TO, 2
CTD
ClinVar
PMID:19684604 NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,724...136,464,942
JBrowse link
G IKZF2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr15:115,512,160...115,677,503
Ensembl chr15:115,512,160...115,677,477
JBrowse link
G IKZF3 IKAROS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr12:22,466,386...22,562,320
Ensembl chr12:22,466,414...22,562,312
JBrowse link
G IL10 interleukin 10 treatment ISO protein:decreased expression:blood RGD PMID:15860861, PMID:21653647 RGD:11049158, RGD:11049169 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IRF4 interferon regulatory factor 4 ISO DNA:SNP:intron:rs12203592 (human) RGD PMID:19897031 RGD:11526162 NCBI chr 7:133,358...149,609
Ensembl chr 7:133,364...149,609
JBrowse link
G ITPA inosine triphosphatase treatment
no_association
ISO DNA:SNPs:exon:94C>A, 138G>A (human)
DNA:SNP:intron
RGD PMID:22009189 RGD:10766474 NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,786
JBrowse link
G KDM2B lysine demethylase 2B ISO mRNA:increased expression:bone marrow (human) RGD PMID:21310926 RGD:9588255 NCBI chr14:31,057,121...31,203,093
Ensembl chr14:31,057,121...31,203,092
JBrowse link
G KDM3B lysine demethylase 3B ISO protein:increased expression:bone marrow, mononuclear cell (human) RGD PMID:22615488 RGD:9586728 NCBI chr 2:140,346,145...140,418,556 JBrowse link
G KDM6A lysine demethylase 6A severity ISO DNA:mutations:cds:multiple (human) RGD PMID:22377896 RGD:9684944 NCBI chr  X:39,953,764...40,154,197
Ensembl chr  X:39,953,759...40,154,194
JBrowse link
G KMT2A lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24736461, PMID:25730765 NCBI chr 9:45,743,566...45,828,559 JBrowse link
G KRAS KRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:17910045, PMID:25917266 RGD:11060148, RGD:11060149 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G LOC100625479 cytochrome P450 1B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,206,750
JBrowse link
G LOC100739163 glutathione S-transferase P-like disease_progression
susceptibility
no_association
ISO DNA:haplotype:cds:
DNA:transition mutation:exon:
DNA:polymorphism: :1578 a>G(human)
RGD PMID:10666194, PMID:15738600, PMID:23979883 RGD:10450829, RGD:10755321, RGD:10755417 NCBI chr 2:4,978,761...4,982,233 JBrowse link
G MEFV MEFV innate immuity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M680I(human) RGD PMID:22942567 RGD:11531121 NCBI chr 3:38,934,573...38,948,609 JBrowse link
G MTHFR methylenetetrahydrofolate reductase treatment
disease_progression
ISO DNA:missense mutation:cds:677C>T (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human)
RGD
CTD
PMID:16706930, PMID:19923983, PMID:21644011 RGD:10449398, RGD:10449407 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase disease_progression
no_association
susceptibility
ISO DNA:polymorphism: :66A>G(human)
DNA:polymorphism: :2756A>G(human)
DNA:SNP::rs10925235(human)
RGD PMID:15159311, PMID:21618417, PMID:22453148, PMID:26605150 RGD:11531136, RGD:11531137, RGD:11531140, RGD:11531141 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,981...54,652,759
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:haplotype:cds:
DNA:SNP: :rs3776455(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17136115, PMID:23940529 RGD:11531133, RGD:11531135 NCBI chr16:74,245,214...74,270,828
Ensembl chr16:74,245,224...74,270,802
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:25784651 RGD:11532748 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G NBN nibrin susceptibility ISO ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to
ClinVar Annotator: match by term: Acute lymphoid leukemia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11325820, PMID:14559852, PMID:15338273, PMID:16474176, PMID:16810201, PMID:17695489, PMID:17894553, PMID:17899368, PMID:18049891, PMID:18280732, PMID:19393249, PMID:19452044, PMID:19523210, PMID:19813148, PMID:19908051, PMID:21212067, PMID:21698754, PMID:22131123, PMID:22373003, PMID:23317186, PMID:23555315, PMID:24093751, PMID:24113799, PMID:24549055, PMID:24728327, PMID:24830725, PMID:25619955, PMID:25712764, PMID:25741868, PMID:26083025, PMID:26315354, PMID:26467025, PMID:26722329, PMID:27153395, PMID:27616075, PMID:27621404, PMID:28261280, PMID:28492532, PMID:29335925, PMID:30441849, PMID:32566746 NCBI chr 4:46,787,664...46,854,331
Ensembl chr 4:46,787,659...46,903,999
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility
disease_progression
ISO DNA:SNP: :rs3918186(human)
DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human)
RGD PMID:20510681, PMID:23922896 RGD:11533639, RGD:11533646 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism
DNA:mutation: :609C>T (human)
DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human)
CTD
RGD
PMID:11774269, PMID:17332311, PMID:18444911 RGD:10769347, RGD:10769359 NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,769...17,302,590
JBrowse link
G NRAS NRAS proto-oncogene, GTPase disease_progression ISO DNA:missense mutation:cds: RGD PMID:25204082 RGD:11535045 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:24076604 NCBI chr 8:938,832...1,018,032
Ensembl chr 8:963,884...1,018,025
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO CTD Direct Evidence: marker/mechanism CTD PMID:23377183 NCBI chr14:114,062,451...114,167,460
Ensembl chr14:114,062,457...114,168,204
JBrowse link
G NUP214 nucleoporin 214 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 1:271,103,838...271,210,292
Ensembl chr 1:271,103,833...271,210,290
JBrowse link
G P14ARF p14ARF protein no_association
disease_progression
susceptibility
ISO DNA:deletion: :
DNA:missense mutations:cds:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9204978, PMID:10090949, PMID:20453839, PMID:25675863, PMID:26104880 RGD:11057958, RGD:11251764, RGD:11252081, RGD:11252082 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
JBrowse link
G P2RY8 P2Y receptor family member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194
G PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr 4:55,450,824...55,619,226
Ensembl chr 4:55,450,848...55,619,219
JBrowse link
G PAX5 paired box 5 susceptibility ISO ClinVar Annotator: match by term: Acute lymphoid leukemia
ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to, 3
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:24013638, PMID:25741868, PMID:26214592 NCBI chr 1:237,574,938...237,785,454
Ensembl chr 1:237,575,045...237,785,413
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:15887099, PMID:18602922, PMID:20205264, PMID:22120844, PMID:22577899, PMID:23012243, PMID:23652311, PMID:24033266, PMID:24362816, PMID:24728189, PMID:24728327, PMID:25512458, PMID:25741868, PMID:25856668, PMID:25980754, PMID:26116798, PMID:26318770, PMID:26467025, PMID:26681312, PMID:27017610, PMID:27037742, PMID:28492532, PMID:28562508, PMID:30155321 NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,113,230...5,145,634
JBrowse link
G PON1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M (rs854560), p.Q192R (rs662) (human) RGD PMID:22976839 RGD:11552580 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator severity ISO mRNA:increased expression:blood (human) RGD PMID:27275197 RGD:11535025 NCBI chr14:48,901,097...48,906,855 JBrowse link
G PRDM14 PR/SET domain 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043588 NCBI chr 4:65,273,988...65,295,362
Ensembl chr 4:65,274,003...65,295,600
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,835...198,638,189
JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675
JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E severity ISO mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) RGD PMID:23915977 RGD:10768836 NCBI chr 9:64,560,544...64,567,007
Ensembl chr 9:64,560,515...64,567,025
JBrowse link
G TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 6:164,282,242...164,297,636
Ensembl chr 6:164,281,737...164,297,637
JBrowse link
G TAL2 TAL bHLH transcription factor 2 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 1:246,932,975...246,944,722
Ensembl chr 1:246,933,241...246,942,163
JBrowse link
G TCF3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,858,786...76,898,351
JBrowse link
G TCN2 transcobalamin 2 ISO protein:altered activity:plasma: RGD PMID:8754152 RGD:11059889 NCBI chr14:47,496,245...47,515,966
Ensembl chr14:47,496,323...47,515,965
JBrowse link
G TERT telomerase reverse transcriptase ISO DNA:SNPs:promoter, introns:g.1296486C>T, g.12866516A>C, g.1279790G>A (rs2735940, rs2736100, rs10069690) (human) RGD PMID:15621763, PMID:23066086 RGD:11038654, RGD:11038667 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TM9SF2 transmembrane 9 superfamily member 2 ISO mRNA:increased expression:bone marrow, mononuclear cells (human) RGD PMID:12730115 RGD:2317244 NCBI chr11:68,407,834...68,469,956
Ensembl chr11:68,404,975...68,469,954
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G TPMT thiopurine S-methyltransferase no_association
treatment
ISO DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human)
DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human)
DNA:SNPs:multiple
DNA:SNPs: :multiple
RGD PMID:17164697, PMID:22009189, PMID:24499706 RGD:10766474, RGD:11038720, RGD:11038723 NCBI chr 7:13,821,656...13,846,107
Ensembl chr 7:13,820,866...13,846,012
JBrowse link
G TYMS thymidylate synthetase treatment ISO DNA:repeats: : rs347430033(human) RGD PMID:25007187 RGD:11080979 NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,640,031...105,660,601
JBrowse link
G VPREB1 V-set pre-B cell surrogate light chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr14:49,972,058...49,972,768
Ensembl chr14:49,970,340...49,972,741
JBrowse link
G XRCC1 X-ray repair cross complementing 1 no_association
susceptibility
ISO DNA:missense mutation: :p.R399Q (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, haplotype: :p.R399Q (human)
DNA:missense mutation: :p.R194W (human)
RGD
CTD
PMID:19101034, PMID:21983886 RGD:11252110, RGD:11252192 NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,686...50,425,710
JBrowse link
Acute Lymphoblastic Leukemia, with Lymphomatous Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:10988075, PMID:11423618, PMID:11853795, PMID:11861307, PMID:11964322, PMID:12130516, PMID:12399961, PMID:12623848, PMID:14559829, PMID:14745431, PMID:15194504, PMID:15256422, PMID:15381060, PMID:18615627, PMID:19466505, PMID:19652056, PMID:20367437, PMID:20512393, PMID:20537386, PMID:20697894, PMID:20963643, PMID:21505103, PMID:21562040, PMID:21762985, PMID:21872826, PMID:21895409, PMID:22306673, PMID:22772060, PMID:22870928, PMID:23355941, PMID:23540562, PMID:23676790, PMID:24236021, PMID:24456693, PMID:25157968, PMID:25686603 NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,711
JBrowse link
G CRLF2 cytokine receptor-like factor 2 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:19907440, PMID:19965641, PMID:20018760, PMID:22368272
G CYP2B22 cytochrome P450 2B22 susceptibility ISO DNA:polymorphism:G15631T RGD PMID:19144407 RGD:6480472 NCBI chr 6:49,158,175...49,173,872
Ensembl chr 6:49,110,812...49,178,413
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:25705862, PMID:26619011, PMID:26942290 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G IL7R interleukin 7 receptor ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:22897847, PMID:22955920 NCBI chr16:21,300,141...21,330,156
Ensembl chr16:21,300,111...21,329,585
JBrowse link
G INSL6 insulin like 6 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:18805579, PMID:19470474, PMID:20585391, PMID:22368270, PMID:22955920 NCBI chr 1:216,792,785...216,820,197
Ensembl chr 1:216,792,787...216,823,479
JBrowse link
G JAK1 Janus kinase 1 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:16239216, PMID:19139102, PMID:19470474, PMID:19838194, PMID:20167706, PMID:21436584, PMID:21680795, PMID:22955920, PMID:25356970 NCBI chr 6:147,320,288...147,567,188
Ensembl chr 6:147,429,106...147,567,179
JBrowse link
G JAK2 Janus kinase 2 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:18805579, PMID:19470474, PMID:20585391, PMID:22368270, PMID:22955920 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,686...217,002,148
JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:10982185, PMID:16843266, PMID:18270328, PMID:20132407, PMID:20372971, PMID:21599579, PMID:21821710, PMID:24728327, PMID:25157968, PMID:28492532 NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495
JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO OMIM NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,495...47,072,245
JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410, PMID:10521296, PMID:11186938, PMID:11447480, PMID:15358028, PMID:16858239, PMID:17125710, PMID:18029407, PMID:19880069, PMID:20031618, PMID:22857948, PMID:23233322, PMID:23283745, PMID:24033266, PMID:24093860, PMID:24111713, PMID:24793961, PMID:25031304, PMID:25351510, PMID:25637381, PMID:25741868, PMID:26743238, PMID:26969327, PMID:27247418, PMID:27532257, PMID:27737317, PMID:27831900, PMID:28138913, PMID:28420666, PMID:28492532, PMID:28615295, PMID:28790153 NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
JBrowse link
G RAG1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:11133745, PMID:21664875, PMID:24290284, PMID:24406074, PMID:26476733, PMID:26596586, PMID:28492532, PMID:30290665 NCBI chr 2:24,565,447...24,573,853
Ensembl chr 2:24,565,449...24,602,590
JBrowse link
adult T-cell leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIRC5 baculoviral IAP repeat containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16497974 NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,237...3,755,188
JBrowse link
G BMP6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18688853 NCBI chr 7:5,058,817...5,208,868
Ensembl chr 7:5,058,817...5,211,316
JBrowse link
G CARD11 caspase recruitment domain family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 3:2,145,178...2,266,377
Ensembl chr 3:2,145,177...2,266,356
JBrowse link
G CCR4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr13:18,860,596...18,865,987
Ensembl chr13:18,860,730...18,865,985
JBrowse link
G CCR7 C-C motif chemokine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr12:21,857,286...21,869,211
Ensembl chr12:21,856,467...21,872,535
JBrowse link
G CD28 CD28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,208...107,162,943
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,980
JBrowse link
G CD86 CD86 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,525...138,504,310
JBrowse link
G CSNK1A1 casein kinase 1 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 2:150,612,845...150,662,431
Ensembl chr 2:150,612,844...150,662,351
JBrowse link
G CSNK2A1 casein kinase 2 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr17:34,692,960...34,748,067 JBrowse link
G CSNK2B casein kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 7:23,781,194...23,787,914 JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
JBrowse link
G FAS Fas cell surface death receptor susceptibility ISO DNA:polymorphism:promoter: -670 G>A(human)
protein:increased expression:peripheral blood mononuclear cell:
RGD PMID:7513372, PMID:17962369 RGD:11049147, RGD:11049453 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FOXP3 forkhead box P3 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:23797717, PMID:23962110 RGD:38456007 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,782...43,328,735
JBrowse link
G FYN FYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 1:77,584,675...77,810,605
Ensembl chr 1:77,585,439...77,810,581
JBrowse link
G GATA3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,660...63,388,859
JBrowse link
G GPR183 G protein-coupled receptor 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr11:68,231,851...68,248,627
Ensembl chr11:68,231,851...68,245,751
JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr18:46,205,164...46,215,861
Ensembl chr18:46,205,418...46,215,858
JBrowse link
G ICOS inducible T cell costimulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr15:107,350,253...107,370,123
Ensembl chr15:107,350,203...107,370,123
JBrowse link
G IFNA1 interferon, alpha 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20370541 NCBI chr 1:201,515,835...201,516,477
Ensembl chr 1:201,736,694...201,750,298
JBrowse link
G IFNG interferon gamma treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:8800741, PMID:23962110 RGD:10755707 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IKZF2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr15:115,512,160...115,677,503
Ensembl chr15:115,512,160...115,677,477
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:8704212, PMID:23962110 RGD:11049460 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL5 interleukin 5 disease_progression ISO protein:increased expression:serum RGD PMID:16425276 RGD:11354942 NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum (human) RGD PMID:10374863 RGD:11060275 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G IRF4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 7:133,358...149,609
Ensembl chr 7:133,364...149,609
JBrowse link
G JAK3 Janus kinase 3 ISO DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) RGD PMID:21821710 RGD:11531131 NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495
JBrowse link
G MYB MYB proto-oncogene, transcription factor disease_progression ISO mRNA:splice variants:CD4+ T cell: RGD PMID:27307595 RGD:11532670 NCBI chr 1:28,819,500...28,856,222
Ensembl chr 1:28,819,503...28,857,000
JBrowse link
G NOTCH1 notch receptor 1 ISO DNA:mutations:multiple (human) RGD PMID:16707600 RGD:1580759
G NRAS NRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:21586752 RGD:11535055 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
G PLCG1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr17:43,810,003...43,844,553
Ensembl chr17:43,809,677...43,844,555
JBrowse link
G PRKCB protein kinase C beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 3:21,995,227...22,383,628
Ensembl chr 3:21,995,231...22,383,264
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24090995 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
JBrowse link
G TAL2 TAL bHLH transcription factor 2 ISO RGD PMID:1763056 RGD:1599285 NCBI chr 1:246,932,975...246,944,722
Ensembl chr 1:246,933,241...246,942,163
JBrowse link
G TERF2 telomeric repeat binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643074 NCBI chr 6:17,605,748...17,631,795
Ensembl chr 6:17,605,346...17,631,793
JBrowse link
G TLX1 T cell leukemia homeobox 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:1683261, PMID:1717256 RGD:1599439 NCBI chr14:112,206,964...112,213,957
Ensembl chr14:112,207,360...112,213,955
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
JBrowse link
G TP73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,177,682...65,228,992
JBrowse link
G VAV1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 2:72,327,433...72,391,649
Ensembl chr 2:72,326,714...72,391,648
JBrowse link
agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLNK B cell linker susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation
CTD
RGD
PMID:10583958 RGD:1600518 NCBI chr14:107,630,477...107,715,421
Ensembl chr14:107,625,803...107,715,368
JBrowse link
G BTK Bruton tyrosine kinase susceptibility ISO CTD Direct Evidence: therapeutic
ClinVar Annotator: match by term: Agammaglobulinemia
DNA:insertions, point mutations
CTD
ClinVar
RGD
PMID:8162018, PMID:10352268, PMID:15142874 RGD:1600526 NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573
JBrowse link
G CD19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 3:18,592,785...18,601,273
Ensembl chr 3:18,592,879...18,603,595
JBrowse link
G CD79A CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:49,996,116...49,999,294
Ensembl chr 6:49,975,957...50,010,059
JBrowse link
G CD79B CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:15,052,966...15,056,441
Ensembl chr12:15,053,007...15,056,441
JBrowse link
G LRRC8A leucine rich repeat containing 8 VRAC subunit A ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:14660746 RGD:1599837 NCBI chr 1:269,209,660...269,238,529
Ensembl chr 1:269,209,671...269,238,526
JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Hypogammaglobulinemia ClinVar PMID:25741868, PMID:28782633 NCBI chr13:72,254,462...72,276,484
Ensembl chr13:72,254,464...72,365,493
JBrowse link
G TCF3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,858,786...76,898,351
JBrowse link
Agammaglobulinemia 3, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD79A CD79a molecule ISO OMIM NCBI chr 6:49,996,116...49,999,294
Ensembl chr 6:49,975,957...50,010,059
JBrowse link
agammaglobulinemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLNK B cell linker ISO OMIM NCBI chr14:107,630,477...107,715,421
Ensembl chr14:107,625,803...107,715,368
JBrowse link
G ZNF518A zinc finger protein 518A ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr14:107,590,080...107,633,917
Ensembl chr14:107,590,598...107,619,779
JBrowse link
agammaglobulinemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRRC8A leucine rich repeat containing 8 VRAC subunit A ISO OMIM NCBI chr 1:269,209,660...269,238,529
Ensembl chr 1:269,209,671...269,238,526
JBrowse link
Agammaglobulinemia 6, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD79B CD79b molecule ISO OMIM NCBI chr12:15,052,966...15,056,441
Ensembl chr12:15,053,007...15,056,441
JBrowse link
Agammaglobulinemia 7, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO OMIM NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,434,873...46,523,609
JBrowse link
Agammaglobulinemia 8, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TCF3 transcription factor 3 ISO OMIM NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,858,786...76,898,351
JBrowse link
Agammaglobulinemia, non-Bruton type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Agammaglobulinemia, non-Bruton type ClinVar PMID:7678697, PMID:7809124, PMID:7849697, PMID:7849721, PMID:7880320, PMID:8090769, PMID:8162056, PMID:8380905, PMID:8594569, PMID:8695804, PMID:8939985, PMID:9143921, PMID:9188445, PMID:9445504, PMID:9524120, PMID:9545398, PMID:9880544, PMID:10092645, PMID:11206059, PMID:11410123, PMID:11445810, PMID:11472359, PMID:11668622, PMID:11742281, PMID:12217331, PMID:14974089, PMID:15661032, PMID:16951917, PMID:17327079, PMID:17765309, PMID:18518992, PMID:19039656, PMID:19904586, PMID:20529312, PMID:23424595, PMID:25741868, PMID:27512878, PMID:27980540, PMID:28492532, PMID:29424453, PMID:29503650, PMID:30072168, PMID:30564228 NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573
JBrowse link
G CD79A CD79a molecule ISO ClinVar Annotator: match by term: Agammaglobulinemia, non-Bruton type ClinVar PMID:25741868 NCBI chr 6:49,996,116...49,999,294
Ensembl chr 6:49,975,957...50,010,059
JBrowse link
anaplastic large cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16151469, PMID:19503098, PMID:21345110, PMID:22155737, PMID:22920921, PMID:22968692 NCBI chr 3:109,411,146...110,105,755 JBrowse link
G HSP90AA1 heat shock protein 90 alpha family class A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157164
G IRF4 interferon regulatory factor 4 ISO DNA:translocation RGD PMID:18987657 RGD:11526155 NCBI chr 7:133,358...149,609
Ensembl chr 7:133,364...149,609
JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:12145210 RGD:1549449 NCBI chr 2:66,214,086...66,219,435
Ensembl chr 2:66,214,594...66,215,637
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261581 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,471
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10908157, PMID:17261581 NCBI chr 6:72,103,309...72,174,882 JBrowse link
G TWIST1 twist family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr 9:88,286,911...88,290,131 JBrowse link
autoimmune lymphoproliferative syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713
JBrowse link
G ANKRD22 ankyrin repeat domain 22 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr14:100,747,955...100,772,412
Ensembl chr14:100,747,957...100,772,362
JBrowse link
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar PMID:11973654, PMID:27577878, PMID:27872624, PMID:28492532 NCBI chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933
JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,470
JBrowse link
G CH25H cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr14:101,122,318...101,128,622
Ensembl chr14:101,123,381...101,125,593
JBrowse link
G FAS Fas cell surface death receptor ISO OMIM NCBI chr14:100,927,305...100,954,781 JBrowse link
G FASLG Fas ligand (TNF superfamily, member 6) ISO OMIM NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,475
JBrowse link
G IFIT2 interferon induced protein with tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr14:101,193,421...101,204,292
Ensembl chr14:101,185,589...101,204,292
JBrowse link
G IFIT3 interferon induced protein with tetratricopeptide repeats 3 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr14:101,214,730...101,225,169
Ensembl chr14:101,214,710...101,249,501
JBrowse link
G LIPA lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr14:101,131,372...101,254,739
Ensembl chr14:101,123,381...101,254,725
JBrowse link
G LIPM lipase family member M ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr14:100,716,038...100,748,916
Ensembl chr14:100,726,480...100,748,300
JBrowse link
G LOC100156277 lipase member N ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr14:100,678,863...100,710,229
Ensembl chr14:100,692,254...100,711,638
JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:21376533 RGD:13204846 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
G STAMBPL1 STAM binding protein like 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr14:100,798,096...100,859,576
Ensembl chr14:100,798,088...100,872,434
JBrowse link
autoimmune lymphoproliferative syndrome type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP10 caspase 10 ISO OMIM NCBI chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933
JBrowse link
autoimmune lymphoproliferative syndrome type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Caspase-8 deficiency ClinVar PMID:28492532 NCBI chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933
JBrowse link
G CASP8 caspase 8 ISO OMIM NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,470
JBrowse link
autoimmune lymphoproliferative syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKCD protein kinase C delta ISO OMIM NCBI chr13:35,290,835...35,323,245
Ensembl chr13:35,290,264...35,323,356
JBrowse link
autoimmune lymphoproliferative syndrome type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase ISO OMIM NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO OMIM NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAS Fas cell surface death receptor ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1a ClinVar PMID:4165068, PMID:4852259, PMID:7539157, PMID:7540117, PMID:8929361, PMID:9028321, PMID:9821419, PMID:9927496, PMID:10090885, PMID:10200300, PMID:10515860, PMID:10709732, PMID:15459302, PMID:20935634, PMID:21490157, PMID:23407489, PMID:26942442, PMID:28492532 NCBI chr14:100,927,305...100,954,781 JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FASLG Fas ligand (TNF superfamily, member 6) ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1b ClinVar PMID:8787672, PMID:25741868 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,475
JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD28 CD28 molecule ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V ClinVar PMID:28492532, PMID:29729943, PMID:30326257 NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,208...107,162,943
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO OMIM NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
JBrowse link
G ICOS inducible T cell costimulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V ClinVar PMID:28492532, PMID:29729943, PMID:30326257 NCBI chr15:107,350,253...107,370,123
Ensembl chr15:107,350,203...107,370,123
JBrowse link
G RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V ClinVar PMID:28492532, PMID:29729943, PMID:30326257 NCBI chr15:106,900,826...106,997,795 JBrowse link
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNFRSF11A TNF receptor superfamily member 11a ISO OMIM NCBI chr 1:159,128,039...159,187,476
Ensembl chr 1:159,128,038...159,187,481
JBrowse link
B-Cell Chronic Lymphocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 susceptibility ISO DNA:SNPs,haplotype: :rs1481012,rs2231142(human) RGD PMID:21918980 RGD:11080977 NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,775,472...130,998,660
JBrowse link
G ACOXL acyl-CoA oxidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 3:45,202,875...45,563,062
Ensembl chr 3:45,203,781...45,563,297
JBrowse link
G AICDA activation induced cytidine deaminase disease_progression ISO RGD PMID:21133730 RGD:11039455 NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,483
JBrowse link
G APOE apolipoprotein E disease_progression ISO RGD PMID:18784741 RGD:11040549 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G ATM ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17968022 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,554
JBrowse link
G BCL11A BAF chromatin remodeling complex subunit BCL11A ISO DNA:translocation:5' utr: (human) RGD PMID:11719382 RGD:11100004 NCBI chr 3:81,195,217...81,296,165
Ensembl chr 3:81,196,294...81,296,165
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment
severity
no_association
ISO protein:increased expression:B cell (human)
DNA:snp:promoter:g.-938C>A (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16960146, PMID:17296974, PMID:17959858, PMID:20001236, PMID:21750559, PMID:23770605 RGD:11522735, RGD:11526104, RGD:11526105, RGD:11526110 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
G BMF Bcl2 modifying factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 1:131,178,021...131,199,668
Ensembl chr 1:131,178,295...131,200,393
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar PMID:12068308, PMID:14612909, PMID:14679157, PMID:14688025, PMID:17096326, PMID:17119447, PMID:17311103, PMID:18368129, PMID:18794803, PMID:19383316, PMID:19537845, PMID:19913317, PMID:20350999, PMID:20619739, PMID:21129611, PMID:22310681, PMID:23352452, PMID:24033266, PMID:25157968, PMID:26619011, PMID:28492532, PMID:29595366 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G BTK Bruton tyrosine kinase treatment ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic RGD
ClinVar
PMID:23045577, PMID:24869598, PMID:28492532 RGD:11040699 NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573
JBrowse link
G CBL Cbl proto-oncogene severity ISO mRNA,protein:increased expression:CD5+ B cell:
DNA:hypophosphorylation:CD5+ B cell:
RGD PMID:17804547 RGD:11038803 NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,404,999...46,512,834
JBrowse link
G CCDC50 coiled-coil domain containing 50 ISO RGD PMID:19641524 RGD:9685139 NCBI chr13:128,619,223...128,690,964
Ensembl chr13:128,619,372...128,690,655
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD40LG CD40 ligand ISO mouse-human chimeric gene in human RGD PMID:20882050 RGD:11352235 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CD5 CD5 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 2:10,648,973...10,673,479
Ensembl chr 2:10,648,974...10,673,919
JBrowse link
G CD79B CD79b molecule ISO protein:decreased expression:B lymphocyte, cell surface (human) RGD PMID:9269755 RGD:11250403 NCBI chr12:15,052,966...15,056,441
Ensembl chr12:15,053,007...15,056,441
JBrowse link
G CD86 CD86 molecule severity ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25179679 RGD:11354969 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,525...138,504,310
JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr 7:52,329,054...52,382,408
Ensembl chr 7:52,304,472...52,383,734
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO protein:increased expression:T cell RGD PMID:15914560, PMID:16094420 RGD:11344923, RGD:11352246 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO RGD PMID:18077792 RGD:11251735 NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,529
JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA:decreased expression: B cell RGD PMID:15467427 RGD:9589146 NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,332,801...36,386,074
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit severity ISO DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:19484764, PMID:22739018 RGD:11252203, RGD:11252204 NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
G FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr15:140,060,304...140,144,059
Ensembl chr15:140,060,361...140,144,038
JBrowse link
G FAS Fas cell surface death receptor disease_progression ISO RGD PMID:12901972 RGD:11049461 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:25741868, PMID:26619011 NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,022...76,699,351
JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa no_association ISO DNA:SNP:exon:p.F158V (rs396991) (human) RGD PMID:14563637 RGD:11352260 NCBI chr 4:88,948,357...88,956,513 JBrowse link
G GNAS GNAS complex locus disease_progression ISO DNA:polymorphism:393T>C (human) RGD PMID:17020971 RGD:1601379 NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:12835555, PMID:16329078, PMID:16372351, PMID:16835863, PMID:17211612, PMID:17384584, PMID:18042262, PMID:19213030, PMID:19255327, PMID:19773371, PMID:20859122, PMID:21438134, PMID:21495179, PMID:21850009, PMID:22256804, PMID:22499344, PMID:22683711, PMID:22726224, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29493581, PMID:168335863 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G ICAM1 intercellular adhesion molecule 1 severity ISO RGD PMID:7658704 RGD:11354983 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IFNG interferon gamma susceptibility ISO DNA:polymorphism: :847A>T(human) RGD PMID:19757192 RGD:10755703 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IL10 interleukin 10 disease_progression
no_association
ISO DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)
protein:increased expression:serum
DNA:SNPs: :multiple
RGD PMID:10638947, PMID:19573080, PMID:22945689 RGD:11041895, RGD:11049165, RGD:11049174 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 9:67,469,519...67,479,597
Ensembl chr 9:67,469,350...67,479,662
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:19074885 RGD:11051968 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:decreased expression:plasma: RGD PMID:10870116 RGD:11522755
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma:
CTD
RGD
PMID:10870116, PMID:18006695 RGD:11522755 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G IRF4 interferon regulatory factor 4 disease_progression ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:12079517, PMID:12393648, PMID:18758461 RGD:11526160, RGD:11530024 NCBI chr 7:133,358...149,609
Ensembl chr 7:133,364...149,609
JBrowse link
G ITGA4 integrin subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21093051 NCBI chr15:86,942,054...87,028,428
Ensembl chr15:86,947,021...87,029,777
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:2278970, PMID:3122217, PMID:12460918, PMID:15696205, PMID:16361624, PMID:16434492, PMID:16618717, PMID:18316791, PMID:18794081, PMID:19075190, PMID:19114683, PMID:19679400, PMID:20921462, PMID:20921465, PMID:21228335, PMID:22407852, PMID:22722830, PMID:23325582, PMID:25157968, PMID:26619011 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 8:113,824,511...113,944,078
Ensembl chr 8:113,824,547...113,944,078
JBrowse link
G LOC110258578 interleukin-1 beta-like severity ISO DNA:SNP:promoter:-511C>T (human)
protein:decreased expression:plasma:
RGD PMID:10870116, PMID:18271063 RGD:11051967, RGD:11522755
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:12835555, PMID:16329078, PMID:16372351, PMID:16835863, PMID:17211612, PMID:17384584, PMID:18042262, PMID:19213030, PMID:19255327, PMID:19773371, PMID:20859122, PMID:21438134, PMID:21495179, PMID:21850009, PMID:22256804, PMID:22499344, PMID:22683711, PMID:22726224, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29493581, PMID:168335863 NCBI chr 2:303,836...323,701
Ensembl chr 2:304,429...323,700
JBrowse link
G MIR143 microRNA mir-143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr 2:150,578,738...150,578,817
Ensembl chr 2:150,578,738...150,578,817
JBrowse link
G MIR145 microRNA mir-145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211
JBrowse link
G MS4A1 membrane spanning 4-domains A1 ISO RGD PMID:19911856 RGD:2316994 NCBI chr 2:11,216,238...11,229,060 JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16706930 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:1654209, PMID:2278970, PMID:2674680, PMID:3122217, PMID:6587382, PMID:8120410, PMID:10821536, PMID:12460918, PMID:12727991, PMID:14508525, PMID:15899789, PMID:16273091, PMID:16291983, PMID:16434492, PMID:17699718, PMID:18390968, PMID:18633438, PMID:18668139, PMID:18948947, PMID:19075190, PMID:19657110, PMID:19880792, PMID:20130576, PMID:20149136, PMID:20179705, PMID:20406486, PMID:20619739, PMID:20736745, PMID:21107323, PMID:21305640, PMID:21576590, PMID:21729679, PMID:21829508, PMID:22407852, PMID:22499344, PMID:22718121, PMID:22761467, PMID:22773810, PMID:23076151, PMID:23392294, PMID:23400451, PMID:23414587, PMID:23515407, PMID:23538902, PMID:23569304, PMID:23614898, PMID:24006476, PMID:24033266, PMID:24148783, PMID:24370118, PMID:24671188, PMID:25157968, PMID:25348872, PMID:25695684, PMID:26619011, PMID:26821351, PMID:27050078, PMID:28492532, PMID:28780248 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
G P2RX7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11003599 NCBI chr14:31,415,188...31,476,502
Ensembl chr14:31,415,192...31,476,472
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:B cell (human) RGD PMID:12673718 RGD:11541127 NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,582,481...14,723,336
JBrowse link
G PLCG2 phospholipase C gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27542411 NCBI chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060
JBrowse link
G PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 1:161,184,458...161,188,138
Ensembl chr 1:161,182,868...161,188,164
JBrowse link
G POLB DNA polymerase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr17:11,356,130...11,388,122
Ensembl chr17:11,356,129...11,388,821
JBrowse link
G PPP2R5C protein phosphatase 2 regulatory subunit B'gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780
G PRAME PRAME nuclear receptor transcriptional regulator ISO protein:increased expression:mononuclear cell (human) RGD PMID:16620968 RGD:11535021 NCBI chr14:48,901,097...48,906,855 JBrowse link
G PRKD2 protein kinase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr 6:52,559,066...52,599,174
Ensembl chr 6:52,559,393...52,599,132
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16314473 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G QPCT glutaminyl-peptide cyclotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 3:102,795,199...102,823,090
Ensembl chr 3:102,792,720...102,823,026
JBrowse link
G RBL2 RB transcriptional corepressor like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr 6:31,757,718...31,802,047
Ensembl chr 6:31,748,739...31,802,022
JBrowse link
G SF3B1 splicing factor 3b subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
CTD
ClinVar
PMID:22158541, PMID:23634996, PMID:26619011 NCBI chr15:101,274,968...101,338,018
Ensembl chr15:101,191,854...101,338,023
JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr 2:6,279,039...6,295,550
Ensembl chr 2:6,279,048...6,294,640
JBrowse link
G SP140 SP140 nuclear body protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr15:131,225,305...131,292,172 JBrowse link
G TERT telomerase reverse transcriptase disease_progression ISO RGD PMID:17344921 RGD:11038662 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TFRC transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,594...134,000,278
JBrowse link
G THBD thrombomodulin ISO RGD PMID:21812019 RGD:5685033 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,221,819...30,230,177
JBrowse link
G TNF tumor necrosis factor disease_progression ISO protein:increased expression:bone marrow, blood, lymphocyte RGD PMID:12010662, PMID:22945689 RGD:10449463, RGD:11041895 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr 1:159,128,039...159,187,476
Ensembl chr 1:159,128,038...159,187,481
JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr11:24,468,011...24,505,421
Ensembl chr11:24,466,586...24,505,422
JBrowse link
G TNFSF13 TNF superfamily member 13 ISO protein:increased expression:serum RGD PMID:15488762 RGD:1549466 NCBI chr12:52,853,646...52,857,033
Ensembl chr12:52,853,665...52,857,033
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
JBrowse link
G TOPBP1 DNA topoisomerase II binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr13:74,768,251...74,846,377
Ensembl chr13:74,766,426...74,846,793
JBrowse link
G TP53 tumor protein p53 disease_progression ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
DNA:deletion: :
CTD
ClinVar
RGD
PMID:1359493, PMID:1565143, PMID:1565144, PMID:1631137, PMID:1679237, PMID:1683921, PMID:1978757, PMID:2046748, PMID:2531845, PMID:2554494, PMID:2826609, PMID:7651740, PMID:7732013, PMID:7791795, PMID:7887414, PMID:8023157, PMID:8062826, PMID:8099841, PMID:8164043, PMID:8242631, PMID:8423216, PMID:8425176, PMID:8479749, PMID:8527048, PMID:8718514, PMID:8825920, PMID:9242456, PMID:9290701, PMID:9364015, PMID:9407971, PMID:9546439, PMID:9569050, PMID:9598730, PMID:9627118, PMID:9632751, PMID:9825943, PMID:9839505, PMID:10064694, PMID:10411893, PMID:10519380, PMID:10761705, PMID:10797439, PMID:10864200, PMID:10867151, PMID:11051239, PMID:11139324, PMID:11180592, PMID:11370630, PMID:11429705, PMID:11479205, PMID:11593407, PMID:11782540, PMID:11793474, PMID:11896595, PMID:11920959, PMID:12007217, PMID:12406399, PMID:12672316, PMID:12700230, PMID:12726864, PMID:12826609, PMID:12917626, PMID:14559903, PMID:14584079, PMID:14673037, PMID:15004724, PMID:15017592, PMID:15381368, PMID:15390294, PMID:15607980, PMID:15607981, PMID:15722483, PMID:15825182, PMID:15925506, PMID:15951970, PMID:16337994, PMID:16401470, PMID:16439677, PMID:16489069, PMID:16682957, PMID:16818505, PMID:16827139, PMID:16861262, PMID:17390010, PMID:17417627, PMID:17427234, PMID:17540308, PMID:17572079, PMID:17606709, PMID:17636407, PMID:17724467, PMID:18511570, PMID:18685109, PMID:19147582, PMID:19378321, PMID:19405127, PMID:19556618, PMID:19681600, PMID:19850740, PMID:19930417, PMID:20013323, PMID:20113312, PMID:20128691, PMID:20308654, PMID:20407015, PMID:20505364, PMID:20516128, PMID:20522432, PMID:20693561, PMID:20805372, PMID:20878954, PMID:21056685, PMID:21059199, PMID:21115975, PMID:21159183, PMID:21187651, PMID:21305319, PMID:21343334, PMID:21483000, PMID:21484931, PMID:21514416, PMID:21519010, PMID:21535297, PMID:21552135, PMID:21601526, PMID:21761402, PMID:22006311, PMID:22109999, PMID:22110706, PMID:22114072, PMID:22186996, PMID:22198284, PMID:22233476, PMID:22265402, PMID:22713868, PMID:22811390, PMID:22844452, PMID:22866089, PMID:22899716, PMID:22915647, PMID:22919068, PMID:23161690, PMID:23172776, PMID:23246812, PMID:23263379, PMID:23265383, PMID:23538418, PMID:23667202, PMID:23713777, PMID:23792586, PMID:23894400, PMID:23950206, PMID:24033266, PMID:24038938, PMID:24381225, PMID:24487413, PMID:24501221, PMID:24573247, PMID:24590827, PMID:24603336, PMID:24641375, PMID:24651012, PMID:24651015, PMID:24677579, PMID:24766216, PMID:24810334, PMID:25157968, PMID:25293557, PMID:25294809, PMID:25339994, PMID:25504633, PMID:25525159, PMID:25584008, PMID:25584637, PMID:25634208, PMID:25691460, PMID:25741868, PMID:25787918, PMID:25896519, PMID:25925845, PMID:25927356, PMID:25945745, PMID:25952993, PMID:26014290, PMID:26024390, PMID:26230955, PMID:26425688, PMID:26467025, PMID:26534844, PMID:26585234, PMID:26619011, PMID:26681312, PMID:26781615, PMID:26787237, PMID:26822237, PMID:26845104, PMID:27179933, PMID:27276561, PMID:27276934, PMID:27374712, PMID:27463065, PMID:27493922, PMID:27501770, PMID:27523101, PMID:27680515, PMID:27683180, PMID:27714481, PMID:27724982, PMID:27895058, PMID:27959731, PMID:28152038, PMID:28369373, PMID:28453743, PMID:28472496, PMID:28476805, PMID:28492532, PMID:28724667, PMID:28861920, PMID:29025599, PMID:29324801, PMID:29416011, PMID:29470806, PMID:29478780, PMID:29489754, PMID:29752822, PMID:29979965, PMID:30076369, PMID:30224644, PMID:30327374, PMID:30720243, PMID:30840781 RGD:11075074 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G VDR vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12446453 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
JBrowse link
G XPO1 exportin 1 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr 3:80,255,016...80,300,260
Ensembl chr 3:80,255,141...80,302,234
JBrowse link
G XRCC1 X-ray repair cross complementing 1 severity
no_association
ISO DNA:SNP: :p.R399Q (rs25487) (human)
DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human)
RGD PMID:19484764 RGD:11252204 NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,686...50,425,710
JBrowse link
B-Cell CLL/Lymphoma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL2 BCL2 apoptosis regulator ISO OMIM NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
B-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 susceptibility ISO DNA:SNP: :rs6857600(human) RGD PMID:21918980 RGD:11080977 NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,775,472...130,998,660
JBrowse link
G AICDA activation induced cytidine deaminase ISO RGD PMID:17251349 RGD:11039449 NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,483
JBrowse link
G BCL6 BCL6 transcription repressor ISO diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region RGD PMID:11821949 RGD:1600111 NCBI chr13:125,377,247...125,401,328
Ensembl chr13:125,377,248...125,393,330
JBrowse link
G BRD2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,150,658...25,165,433
JBrowse link
G BTK Bruton tyrosine kinase treatment ISO RGD PMID:25662332 RGD:11040764 NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573
JBrowse link
G CBX7 chromobox 7 ISO RGD PMID:17374722 RGD:11352707 NCBI chr 5:9,070,312...9,090,467 JBrowse link
G CD40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CSF2 colony stimulating factor 2 treatment ISO RGD PMID:8469286 RGD:10450244 NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11042651 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,445...22,342,163
JBrowse link
G EAF2 ELL associated factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20564326 NCBI chr13:138,632,541...138,681,607
Ensembl chr13:138,637,086...138,681,613
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit severity ISO RGD PMID:23982173 RGD:10755356 NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,384,995...109,450,941
JBrowse link
G IL21R interleukin 21 receptor ISO diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region RGD PMID:11821949 RGD:1600111 NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,344...19,489,152
JBrowse link
G JAK3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24837469 NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495
JBrowse link
G KAT5 lysine acetyltransferase 5 severity ISO RGD PMID:17728759 RGD:9588481 NCBI chr 2:6,560,544...6,572,461
Ensembl chr 2:6,560,513...6,572,466
JBrowse link
G LGALS1 galectin 1 ISO protein:increased expression:primary tumor (rat) RGD PMID:16733672 RGD:2316550 NCBI chr 5:10,149,069...10,152,514
Ensembl chr 5:10,149,062...10,156,210
JBrowse link
G MIR143 microRNA mir-143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr 2:150,578,738...150,578,817
Ensembl chr 2:150,578,738...150,578,817
JBrowse link
G MIR145 microRNA mir-145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14633661 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14654083 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24531327 NCBI chr17:52,017,100...52,086,747
Ensembl chr17:52,017,104...52,086,736
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
JBrowse link
G TNFSF9 TNF superfamily member 9 ISO RGD PMID:10202049 RGD:2317349 NCBI chr 2:72,578,811...72,582,834
Ensembl chr 2:72,578,821...72,582,745
JBrowse link
B-lymphoblastic leukemia/lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase treatment ISO RGD PMID:21481795 RGD:11038814 NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,711
JBrowse link
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
G ATF7IP activating transcription factor 7 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr 5:58,022,734...58,149,980
Ensembl chr 5:58,022,740...58,150,185
JBrowse link
G BCL2L1 BCL2 like 1 severity ISO RGD PMID:18216295 RGD:11531108 NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,141...35,415,359
JBrowse link
G BRD2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,150,658...25,165,433
JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24154679 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,673,798...31,677,696
JBrowse link
G CCND1 cyclin D1 ISO mRNA:increased expression:B cell (mouse) RGD PMID:23169640 RGD:11353783 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
JBrowse link
G CDH1 cadherin 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:10617473, PMID:11053450, PMID:11479205, PMID:11719428, PMID:11967536, PMID:12094328, PMID:12533788, PMID:12690581, PMID:14648717, PMID:14648718, PMID:14648719, PMID:15122511, PMID:15488637, PMID:15492928, PMID:15520402, PMID:16257342, PMID:16492927, PMID:16880452, PMID:17085682, PMID:18172190, PMID:19338683, PMID:19805189, PMID:21807500, PMID:21956126, PMID:22006311, PMID:22058428, PMID:22419737, PMID:22811390, PMID:22994785, PMID:23469205, PMID:24033266, PMID:24884479, PMID:25431674, PMID:25741868, PMID:26084796, PMID:26467025, PMID:26641009, PMID:26681312, PMID:26822237, PMID:26845104, PMID:26884562, PMID:27083775, PMID:27153395, PMID:27269948, PMID:27433846, PMID:27751358, PMID:27798748, PMID:28125075, PMID:28135145, PMID:28195393, PMID:28492532, PMID:28503720, PMID:28514723, PMID:28727877, PMID:28734145, PMID:28779002, PMID:28802053, PMID:28874143, PMID:29351919, PMID:29489754, PMID:30311386 NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,926,613...45,967,296
JBrowse link
G CRLF2 cytokine receptor-like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:23623386, PMID:25741868 NCBI chr 3:29,266,234...29,306,109
Ensembl chr 3:29,266,236...29,306,116
JBrowse link
G ETV6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15217836, PMID:24413735, PMID:25807284 NCBI chr 5:60,523,530...60,776,792
Ensembl chr 5:60,394,656...60,776,750
JBrowse link
G F13A1 coagulation factor XIII A chain ISO protein:increased expression:B lymphoblast: RGD PMID:16894461 RGD:11041855 NCBI chr 7:3,751,290...3,900,797
Ensembl chr 7:3,751,291...3,900,765
JBrowse link
G F3 coagulation factor III, tissue factor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,992...122,837,672
JBrowse link
G FH fumarate hydratase ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868, PMID:28492532 NCBI chr10:12,404,143...12,431,843
Ensembl chr10:12,404,176...12,431,801
JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 ISO mRNA,protein:increased expression:bone marrow: RGD PMID:8562934 RGD:11049466 NCBI chr11:5,370,475...5,455,439
Ensembl chr11:5,361,788...5,455,359
JBrowse link
G GATA3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,660...63,388,859
JBrowse link
G IKZF1 IKAROS family zinc finger 1 disease_progression ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:22699455, PMID:24141364 RGD:11075072 NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,724...136,464,942
JBrowse link
G IL5 interleukin 5 ISO RGD PMID:15368290 RGD:7241068 NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
JBrowse link
G IRF4 interferon regulatory factor 4 ISO RGD PMID:20585039, PMID:21818355, PMID:25006123 RGD:11526159, RGD:11530020, RGD:11530030 NCBI chr 7:133,358...149,609
Ensembl chr 7:133,364...149,609
JBrowse link
G IRF8 interferon regulatory factor 8 ISO RGD PMID:20585039 RGD:11530030 NCBI chr 6:3,041,617...3,060,685
Ensembl chr 6:3,041,645...3,137,549
JBrowse link
G MGA MAX dimerization protein MGA ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr 1:129,590,645...129,697,434
Ensembl chr 1:129,594,794...129,697,408
JBrowse link
G MYB MYB proto-oncogene, transcription factor disease_progression ISO mRNA:splice variants:cds: RGD PMID:21853052 RGD:11532669 NCBI chr 1:28,819,500...28,856,222
Ensembl chr 1:28,819,503...28,857,000
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:22120021 RGD:7207416 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:23656349, PMID:25741868, PMID:28492532 NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176
JBrowse link
G P14ARF p14ARF protein susceptibility
treatment
ISO DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human) RGD PMID:16618932, PMID:21622646, PMID:26104880 RGD:11057958, RGD:11251751, RGD:11251772 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
JBrowse link
G PAX5 paired box 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24013638, PMID:30643249 NCBI chr 1:237,574,938...237,785,454
Ensembl chr 1:237,575,045...237,785,413
JBrowse link
G PBX1 PBX homeobox 1 ISO OMIM NCBI chr 4:85,824,590...86,170,328
Ensembl chr 4:85,824,666...86,170,191
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha treatment ISO RGD PMID:22447844 RGD:11075097 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,442
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868, PMID:28492532 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15217836, PMID:24413735 NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,835...198,638,189
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19796711 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868, PMID:26080840, PMID:26295973, PMID:28492532 NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
JBrowse link
G TCF3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246562 NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,858,786...76,898,351
JBrowse link
G TFPI tissue factor pathway inhibitor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905
JBrowse link
G TNFSF13 TNF superfamily member 13 ISO RGD PMID:15488762 RGD:1549466 NCBI chr12:52,853,646...52,857,033
Ensembl chr12:52,853,665...52,857,033
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
JBrowse link
G TP53 tumor protein p53 disease_progression ISO DNA:mutations: : RGD PMID:22699455 RGD:11075072 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:8621495, PMID:12640141, PMID:16987884, PMID:25741868, PMID:28492532, PMID:28811308 NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,794...28,456,003
JBrowse link
B-lymphoblastic leukemia/lymphoma with BCR-ABL1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 ClinVar PMID:25741868 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,128
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 ClinVar PMID:25741868 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,168...39,292,018
JBrowse link
B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25186627, PMID:25741868, PMID:28492532 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868, PMID:28492532 NCBI chr14:87,743,270...87,891,790
Ensembl chr14:87,742,459...87,891,793
JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868, PMID:28492532 NCBI chr11:8,805,950...8,858,128 JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,628
JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:21520333, PMID:23104009, PMID:23621914, PMID:25741868, PMID:26689913, PMID:28492532 NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,128
JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,835
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868, PMID:28492532 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
G RECQL4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:10678659, PMID:12734318, PMID:12838562, PMID:18716613, PMID:25741868 NCBI chr 4:287,206...293,629 JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868 NCBI chr 3:101,209,568...101,366,057
Ensembl chr 3:101,089,243...101,362,723
JBrowse link
B-lymphoblastic leukemia/lymphoma with hyperdiploidy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:109,411,146...110,105,755 JBrowse link
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:11802209, PMID:15385441, PMID:16267036, PMID:19616529, PMID:22811390, PMID:23704879, PMID:25348012, PMID:25722345, PMID:25741868, PMID:26295337, PMID:26467025, PMID:26727311, PMID:27208206, PMID:28492532, PMID:31131967 NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,855,570
JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:17924331, PMID:18824701, PMID:21120943, PMID:21990165, PMID:25348012, PMID:25741868, PMID:26689913, PMID:28492532 NCBI chr11:8,805,950...8,858,128 JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:24033266, PMID:25741868 NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,404,999...46,512,834
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:25741868 NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,658...74,651,348
JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,628
JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:21490379, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,415
JBrowse link
B-lymphoblastic leukemia/lymphoma with hypodiploidy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
G CEBPA CCAAT enhancer binding protein alpha ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:43,083,200...43,085,884
Ensembl chr 6:43,083,203...43,085,836
JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy ClinVar PMID:14566559, PMID:14627689, PMID:18772120, PMID:21655256, PMID:22703879, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,415
JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy ClinVar PMID:25741868, PMID:28492532 NCBI chr16:79,838,442...79,862,956 JBrowse link
B-lymphoblastic leukemia/lymphoma with iAMP21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 ClinVar PMID:25741868, PMID:28492532 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 ClinVar PMID:22589294, PMID:25741868, PMID:26580448, PMID:27153395, PMID:28492532 NCBI chr 3:101,209,568...101,366,057
Ensembl chr 3:101,089,243...101,362,723
JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,922...39,937,371
JBrowse link
Blau syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility ISO DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snp:cds:p.E383G (human)
DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
DNA:snp:cds:p.E383K (human)
OMIM
RGD
PMID:11528384, PMID:15812565, PMID:19116920, PMID:19479837 RGD:8158040, RGD:8158051, RGD:8547515, RGD:8547518 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
JBrowse link
Burkitt lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4GALT alpha 1,4-galactosyltransferase (P blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:11482875 NCBI chr 5:6,083,793...6,105,921
Ensembl chr 5:6,083,444...6,105,924
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,365...84,123,384
JBrowse link
G BBC3 BCL2 binding component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18573879 NCBI chr 6:53,037,103...53,046,902 JBrowse link
G CCT6B chaperonin containing TCP1 subunit 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr12:40,205,122...40,230,130
Ensembl chr12:40,205,121...40,473,528
JBrowse link
G CD40 CD40 molecule treatment ISO human cell line in a mouse model RGD PMID:9192773 RGD:11520790 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597
G GNA13 G protein subunit alpha 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr12:11,922,630...11,966,913
Ensembl chr12:11,922,632...11,966,610
JBrowse link
G ID3 inhibitor of DNA binding 3, HLH protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143595, PMID:23143597 NCBI chr 6:81,422,541...81,424,169
Ensembl chr 6:81,422,539...81,424,075
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO OMIM NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G PBX1 PBX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982, PMID:17244677 NCBI chr 4:85,824,590...86,170,328
Ensembl chr 4:85,824,666...86,170,191
JBrowse link
G PC pyruvate carboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 2:5,566,608...5,587,797
Ensembl chr 2:5,518,430...5,587,797
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,434,873...46,523,609
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Burkitt lymphoma ClinVar PMID:15887099, PMID:18602922, PMID:20205264, PMID:22120844, PMID:22577899, PMID:23012243, PMID:23652311, PMID:24033266, PMID:24362816, PMID:24728189, PMID:24728327, PMID:25512458, PMID:25741868, PMID:25856668, PMID:25980754, PMID:26116798, PMID:26318770, PMID:26467025, PMID:26681312, PMID:27017610, PMID:27037742, PMID:28492532, PMID:28562508, PMID:30155321 NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,113,230...5,145,634
JBrowse link
G RET ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,415
JBrowse link
G SALL3 spalt like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 1:146,251,591...146,273,778
Ensembl chr 1:146,252,154...146,274,620
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,298
JBrowse link
G TCF3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982, PMID:17244677 NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,858,786...76,898,351
JBrowse link
Castleman disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15182131 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
central nervous system lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 ISO DNA:SNP:promoter:-1082G>A (human) RGD PMID:22628023 RGD:7364831 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
childhood acute lymphocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Acute lymphoblastic leukemia, childhood ClinVar PMID:15887099, PMID:18602922, PMID:20205264, PMID:22120844, PMID:22577899, PMID:23012243, PMID:23652311, PMID:24033266, PMID:24362816, PMID:24728189, PMID:24728327, PMID:25512458, PMID:25741868, PMID:25856668, PMID:25980754, PMID:26116798, PMID:26318770, PMID:26467025, PMID:26681312, PMID:27017610, PMID:27037742, PMID:28492532, PMID:28562508, PMID:30155321 NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,113,230...5,145,634
JBrowse link
chronic lymphocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK3 adenylate kinase 3 ISO protein:increased expression:peripheral blood mononuclear cell RGD PMID:27078856 RGD:13842476 NCBI chr 1:217,236,561...217,263,144
Ensembl chr 1:217,236,482...217,261,370
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:12068308, PMID:12198537, PMID:12692057, PMID:12960123, PMID:14612909, PMID:14679157, PMID:14688025, PMID:15035987, PMID:16187918, PMID:17096326, PMID:17119447, PMID:17311103, PMID:17704260, PMID:18039235, PMID:18060073, PMID:18368129, PMID:18413255, PMID:18794803, PMID:19206169, PMID:19383316, PMID:19537845, PMID:19913317, PMID:20350999, PMID:20619739, PMID:21129611, PMID:21639808, PMID:22048237, PMID:22310681, PMID:22495831, PMID:22663011, PMID:22972589, PMID:23352452, PMID:23680146, PMID:24033266, PMID:24451042, PMID:25155755, PMID:25157968, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29595366 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G BTK Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:24869598, PMID:28492532 NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573
JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:9450802 RGD:11522717 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CD86 CD86 molecule ISO DNA:hypermethylation (human) RGD PMID:23154584 RGD:11354975 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,525...138,504,310
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:25741868, PMID:26619011 NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,022...76,699,351
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar Annotator: match by term: Chronic lymphocytic leukemia
ClinVar PMID:12835555, PMID:16329078, PMID:16372351, PMID:16835863, PMID:17211612, PMID:17384584, PMID:18042262, PMID:19213030, PMID:19255327, PMID:19773371, PMID:20859122, PMID:21438134, PMID:21495179, PMID:21850009, PMID:22256804, PMID:22499344, PMID:22683711, PMID:22726224, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29493581, PMID:168335863 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G IL5 interleukin 5 ISO protein:increased expression:serum RGD PMID:21911837 RGD:11354912 NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
JBrowse link
G IRF4 interferon regulatory factor 4 disease_progression ISO DNA:SNP: :rs872071 (human)
DNA:SNPs:3' utr:multiple
DNA:missense mutation:exon:p.L116R (human)
RGD PMID:20090783, PMID:20123861, PMID:20731705, PMID:21791429, PMID:23897826, PMID:23926303 RGD:11526156, RGD:11526158, RGD:11530021, RGD:11530026, RGD:11530029, RGD:11530031 NCBI chr 7:133,358...149,609
Ensembl chr 7:133,364...149,609
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:2278970, PMID:3122217, PMID:12460918, PMID:15696205, PMID:16361624, PMID:16434492, PMID:16618717, PMID:18316791, PMID:18794081, PMID:19075190, PMID:19114683, PMID:19679400, PMID:20921462, PMID:20921465, PMID:21228335, PMID:22407852, PMID:22722830, PMID:23325582, PMID:25157968, PMID:26619011 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:12835555, PMID:16329078, PMID:16372351, PMID:16835863, PMID:17211612, PMID:17384584, PMID:18042262, PMID:19213030, PMID:19255327, PMID:19773371, PMID:20859122, PMID:21438134, PMID:21495179, PMID:21850009, PMID:22256804, PMID:22499344, PMID:22683711, PMID:22726224, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29493581, PMID:168335863 NCBI chr 2:303,836...323,701
Ensembl chr 2:304,429...323,700
JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:29658610 RGD:21081544 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G MIR21 microRNA mir-21 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:29658610 RGD:21081544 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:20956327 RGD:11340590 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:21179087, PMID:22931316, PMID:23215570, PMID:26619011, PMID:28492532 NCBI chr13:22,976,951...22,979,568
Ensembl chr13:22,964,071...22,983,109
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:1654209, PMID:2278970, PMID:2674680, PMID:3122217, PMID:6587382, PMID:8120410, PMID:10821536, PMID:12460918, PMID:12727991, PMID:14508525, PMID:15899789, PMID:16273091, PMID:16291983, PMID:16434492, PMID:17699718, PMID:18390968, PMID:18633438, PMID:18668139, PMID:18948947, PMID:19075190, PMID:19657110, PMID:19880792, PMID:20130576, PMID:20149136, PMID:20179705, PMID:20406486, PMID:20619739, PMID:20736745, PMID:21107323, PMID:21305640, PMID:21576590, PMID:21729679, PMID:21829508, PMID:22407852, PMID:22499344, PMID:22718121, PMID:22761467, PMID:22773810, PMID:23076151, PMID:23392294, PMID:23400451, PMID:23414587, PMID:23515407, PMID:23538902, PMID:23569304, PMID:23614898, PMID:24006476, PMID:24033266, PMID:24148783, PMID:24370118, PMID:24671188, PMID:25157968, PMID:25348872, PMID:25695684, PMID:26619011, PMID:26821351, PMID:27050078, PMID:28492532, PMID:28780248 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
G PLCG2 phospholipase C gamma 2 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:24869598 NCBI chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060
JBrowse link
G PON1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26254371 RGD:11073982 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:12717436, PMID:14644997, PMID:15385933, PMID:15710330, PMID:15928039, PMID:16358218, PMID:17972951, PMID:19047918, PMID:19179468, PMID:24033266, PMID:25097206, PMID:25395418, PMID:26619011, PMID:27069254, PMID:28098151, PMID:30868567 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,168...39,292,018
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 susceptibility ISO protein:increased expression:B cell (human)
DNA:snp:cds:p.R620W (rs2476601) (human)
RGD PMID:22569400, PMID:23287625 RGD:11533998, RGD:11535006 NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
JBrowse link
G SF3B1 splicing factor 3b subunit 1 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:23634996, PMID:26619011 NCBI chr15:101,274,968...101,338,018
Ensembl chr15:101,191,854...101,338,023
JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr 2:6,279,039...6,295,550
Ensembl chr 2:6,279,048...6,294,640
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:peripheral blood mononuclear cell RGD PMID:29658610 RGD:21081544 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:1359493, PMID:1565143, PMID:1565144, PMID:1631137, PMID:1679237, PMID:1683921, PMID:1978757, PMID:2046748, PMID:2531845, PMID:2554494, PMID:2826609, PMID:7651740, PMID:7732013, PMID:7791795, PMID:7887414, PMID:8023157, PMID:8062826, PMID:8099841, PMID:8164043, PMID:8242631, PMID:8423216, PMID:8425176, PMID:8479749, PMID:8527048, PMID:8718514, PMID:8825920, PMID:9242456, PMID:9290701, PMID:9364015, PMID:9407971, PMID:9546439, PMID:9569050, PMID:9598730, PMID:9627118, PMID:9632751, PMID:9825943, PMID:9839505, PMID:10064694, PMID:10411893, PMID:10519380, PMID:10761705, PMID:10797439, PMID:10864200, PMID:11051239, PMID:11139324, PMID:11180592, PMID:11370630, PMID:11429705, PMID:11479205, PMID:11593407, PMID:11782540, PMID:11793474, PMID:11896595, PMID:11920959, PMID:12007217, PMID:12406399, PMID:12672316, PMID:12700230, PMID:12726864, PMID:12826609, PMID:12917626, PMID:14559903, PMID:14584079, PMID:14673037, PMID:15004724, PMID:15017592, PMID:15381368, PMID:15390294, PMID:15607980, PMID:15607981, PMID:15722483, PMID:15825182, PMID:15925506, PMID:15951970, PMID:16337994, PMID:16401470, PMID:16489069, PMID:16682957, PMID:16818505, PMID:16827139, PMID:16861262, PMID:17390010, PMID:17417627, PMID:17427234, PMID:17540308, PMID:17572079, PMID:17606709, PMID:17636407, PMID:17724467, PMID:18511570, PMID:18685109, PMID:19147582, PMID:19378321, PMID:19405127, PMID:19556618, PMID:19681600, PMID:19850740, PMID:19930417, PMID:20013323, PMID:20113312, PMID:20128691, PMID:20308654, PMID:20407015, PMID:20505364, PMID:20516128, PMID:20522432, PMID:20693561, PMID:20805372, PMID:20878954, PMID:21056685, PMID:21059199, PMID:21115975, PMID:21159183, PMID:21187651, PMID:21305319, PMID:21343334, PMID:21483000, PMID:21484931, PMID:21514416, PMID:21519010, PMID:21535297, PMID:21552135, PMID:21601526, PMID:21761402, PMID:22006311, PMID:22109999, PMID:22110706, PMID:22114072, PMID:22186996, PMID:22198284, PMID:22233476, PMID:22265402, PMID:22713868, PMID:22811390, PMID:22844452, PMID:22866089, PMID:22899716, PMID:22915647, PMID:22919068, PMID:23161690, PMID:23172776, PMID:23246812, PMID:23263379, PMID:23265383, PMID:23538418, PMID:23667202, PMID:23713777, PMID:23792586, PMID:23894400, PMID:23950206, PMID:24033266, PMID:24038938, PMID:24381225, PMID:24487413, PMID:24501221, PMID:24573247, PMID:24590827, PMID:24603336, PMID:24641375, PMID:24651012, PMID:24651015, PMID:24677579, PMID:24766216, PMID:24810334, PMID:25157968, PMID:25293557, PMID:25294809, PMID:25339994, PMID:25504633, PMID:25525159, PMID:25584008, PMID:25584637, PMID:25634208, PMID:25691460, PMID:25741868, PMID:25787918, PMID:25896519, PMID:25925845, PMID:25927356, PMID:25945745, PMID:25952993, PMID:26014290, PMID:26024390, PMID:26230955, PMID:26425688, PMID:26467025, PMID:26534844, PMID:26585234, PMID:26619011, PMID:26681312, PMID:26781615, PMID:26787237, PMID:26822237, PMID:26845104, PMID:27179933, PMID:27276561, PMID:27276934, PMID:27374712, PMID:27463065, PMID:27493922, PMID:27501770, PMID:27523101, PMID:27680515, PMID:27683180, PMID:27714481, PMID:27724982, PMID:27895058, PMID:27959731, PMID:28152038, PMID:28369373, PMID:28453743, PMID:28472496, PMID:28476805, PMID:28492532, PMID:28724667, PMID:28861920, PMID:29025599, PMID:29324801, PMID:29416011, PMID:29470806, PMID:29478780, PMID:29489754, PMID:29752822, PMID:29979965, PMID:30076369, PMID:30224644, PMID:30327374, PMID:30720243, PMID:30840781 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G XPO1 exportin 1 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr 3:80,255,016...80,300,260
Ensembl chr 3:80,255,141...80,302,234
JBrowse link
Churg-Strauss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL26 C-C motif chemokine ligand 26 ISO protein:increased expression:serum (human) RGD PMID:21266446 RGD:11081158 NCBI chr 3:10,381,306...10,385,677
Ensembl chr 3:10,381,296...10,385,796
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,601...22,965,886
JBrowse link
G GFRA1 GDNF family receptor alpha 1 ISO RGD PMID:9853108 RGD:6218983 NCBI chr14:126,273,558...126,499,957
Ensembl chr14:126,277,857...126,499,465
JBrowse link
G IL5 interleukin 5 severity ISO RGD PMID:22772323 RGD:6892720 NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO RGD PMID:22772323 RGD:6892720 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
JBrowse link
G VTN vitronectin ISO RGD PMID:12126637 RGD:1580817 NCBI chr12:44,650,532...44,653,916
Ensembl chr12:44,617,499...44,660,271
JBrowse link
common variable immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 3:18,592,785...18,601,273
Ensembl chr 3:18,592,879...18,603,595
JBrowse link
G CD40LG CD40 ligand ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CD81 CD81 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:1,625,728...1,641,662
Ensembl chr 2:1,506,652...1,641,667
JBrowse link
G DCLRE1C DNA cross-link repair 1C ISO DNA:missense mutation, frameshift mutation: :p.T65I (c.194C>T), c.1669_1670insA (human) RGD PMID:26476407 RGD:11251730 NCBI chr10:46,820,016...46,863,848
Ensembl chr10:46,820,051...46,868,030
JBrowse link
G ICOS inducible T cell costimulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:107,350,253...107,370,123
Ensembl chr15:107,350,203...107,370,123
JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,724...136,464,942
JBrowse link
G IL21 interleukin 21 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,530,949...101,540,738
JBrowse link
G IL21R interleukin 21 receptor ISO DNA:SNPs:exons: RGD PMID:18254984 RGD:6892941 NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,344...19,489,152
JBrowse link
G MANBA mannosidase beta ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr 8:118,251,122...118,361,903
Ensembl chr 8:118,251,236...118,364,856
JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human) RGD PMID:10652157 RGD:4889436 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G MS4A1 membrane spanning 4-domains A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:11,216,238...11,229,060 JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable agammaglobulinemia
ClinVar Annotator: match by term: Common variable immunodeficiency
CTD
ClinVar
PMID:25741868, PMID:29477724 NCBI chr 8:118,391,010...118,478,927
Ensembl chr 8:118,390,637...118,506,691
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable immunodeficiency
CTD
ClinVar
PMID:24140114, PMID:24702956, PMID:25524009, PMID:25605273, PMID:25741868, PMID:28492532, PMID:28778864, PMID:29225085, PMID:30941118 NCBI chr14:113,406,412...113,414,177
Ensembl chr14:113,406,004...113,414,173
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:T cell (human) RGD PMID:22697005 RGD:6771226 NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,582,481...14,723,336
JBrowse link
G RAG2 recombination activating 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:18463379, PMID:24331380, PMID:25741868, PMID:26457731, PMID:28492532 NCBI chr 2:24,547,605...24,553,944
Ensembl chr 2:24,546,958...24,558,430
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable agammaglobulinemia
ClinVar Annotator: match by term: Common variable immunodeficiency 2
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant
CTD
ClinVar
PMID:8072530, PMID:15077010, PMID:16007086, PMID:16007087, PMID:16299065, PMID:16630947, PMID:16782407, PMID:16899196, PMID:17192819, PMID:17392797, PMID:17392798, PMID:17464555, PMID:17492055, PMID:17556024, PMID:17917015, PMID:17947292, PMID:17983875, PMID:18496551, PMID:18509552, PMID:18978466, PMID:18981294, PMID:19210517, PMID:19392801, PMID:19605846, PMID:19629655, PMID:19779048, PMID:20006554, PMID:20156508, PMID:20676093, PMID:20889194, PMID:21419480, PMID:21458042, PMID:21547394, PMID:21724465, PMID:21850030, PMID:22076597, PMID:22627058, PMID:22697072, PMID:22699762, PMID:22884984, PMID:22983507, PMID:23237420, PMID:23956760, PMID:24033266, PMID:24051380, PMID:25174870, PMID:25326637, PMID:25741868, PMID:26046366, PMID:26100089, PMID:26122175, PMID:26727773, PMID:27123465, PMID:27577878, PMID:28492532, PMID:29114388, PMID:29146883, PMID:29555771, PMID:29867916, PMID:30311386 NCBI chr12:61,245,976...61,270,154 JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive
CTD
ClinVar
NCBI chr 5:6,699,812...6,703,403
Ensembl chr 5:6,699,877...6,703,659
JBrowse link
G TNFSF12 TNF superfamily member 12 ISO ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar Annotator: match by term: Common variable agammaglobulinemia
ClinVar PMID:28492532 NCBI chr12:52,843,026...52,853,328
Ensembl chr12:52,842,683...52,853,326
JBrowse link
G TTC7A tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr 3:93,457,623...93,591,982
Ensembl chr 3:93,457,622...93,592,348
JBrowse link
Common Variable Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ICOS inducible T cell costimulator ISO OMIM NCBI chr15:107,350,253...107,370,123
Ensembl chr15:107,350,203...107,370,123
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 1 ClinVar PMID:24140114 NCBI chr14:113,406,412...113,414,177
Ensembl chr14:113,406,004...113,414,173
JBrowse link
Common Variable Immunodeficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFKB2 nuclear factor kappa B subunit 2 ISO OMIM NCBI chr14:113,406,412...113,414,177
Ensembl chr14:113,406,004...113,414,173
JBrowse link
Common Variable Immunodeficiency 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL21 interleukin 21 ISO OMIM NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,530,949...101,540,738
JBrowse link
Common Variable Immunodeficiency 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFKB1 nuclear factor kappa B subunit 1 ISO OMIM NCBI chr 8:118,391,010...118,478,927
Ensembl chr 8:118,390,637...118,506,691
JBrowse link
Common Variable Immunodeficiency 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IKZF1 IKAROS family zinc finger 1 ISO OMIM NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,724...136,464,942
JBrowse link
Common Variable Immunodeficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF2BP2 interferon regulatory factor 2 binding protein 2 ISO OMIM NCBI chr14:56,545,792...56,551,131
Ensembl chr14:56,545,189...56,551,125
JBrowse link
Common Variable Immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNFRSF13B TNF receptor superfamily member 13B ISO OMIM NCBI chr12:61,245,976...61,270,154 JBrowse link
Common Variable Immunodeficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD19 CD19 molecule ISO OMIM NCBI chr 3:18,592,785...18,601,273
Ensembl chr 3:18,592,879...18,603,595
JBrowse link
Common Variable Immunodeficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACO2 aconitase 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 5:7,014,383...7,071,023
Ensembl chr 5:7,002,124...7,070,999
JBrowse link
G CCDC134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 5:6,785,957...6,800,816
Ensembl chr 5:6,785,945...6,799,913
JBrowse link
G CENPM centromere protein M ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 5:6,677,607...6,690,322
Ensembl chr 5:6,677,716...6,690,308
JBrowse link
G CSDC2 cold shock domain containing C2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 5:6,976,121...6,988,604
Ensembl chr 5:6,975,840...6,988,422
JBrowse link
G DESI1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 5:6,929,302...6,954,040
Ensembl chr 5:6,929,329...6,954,037
JBrowse link
G MEI1 meiotic double-stranded break formation protein 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 5:6,785,957...6,870,599
Ensembl chr 5:6,800,959...6,870,837
JBrowse link
G NAGA alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 5:6,580,141...6,587,550
Ensembl chr 5:6,571,037...6,590,546
JBrowse link
G PHF5A PHD finger protein 5A ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 5:7,071,145...7,080,046
Ensembl chr 5:7,071,271...7,082,696
JBrowse link
G PMM1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 5:6,964,999...6,975,904
Ensembl chr 5:6,964,999...6,975,904
JBrowse link
G POLR3H RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 5:6,999,690...7,014,471
Ensembl chr 5:6,997,444...7,014,422
JBrowse link
G RANGAP1 Ran GTPase activating protein 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 5:7,210,974...7,240,965
Ensembl chr 5:7,210,980...7,241,003
JBrowse link
G SEPTIN3 septin 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 5:6,631,750...6,657,837
Ensembl chr 5:6,589,864...6,662,432
JBrowse link
G SHISA8 shisa family member 8 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 5:6,711,089...6,716,644
Ensembl chr 5:6,711,535...6,716,364
JBrowse link
G SNU13 small nuclear ribonucleoprotein 13 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 5:6,891,014...6,900,026
Ensembl chr 5:6,885,067...6,900,023
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 5:6,719,484...6,784,724
Ensembl chr 5:6,719,487...6,784,672
JBrowse link
G TEF TEF transcription factor, PAR bZIP family member ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 5:7,119,354...7,135,171
Ensembl chr 5:7,119,356...7,144,498
JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C ISO OMIM NCBI chr 5:6,699,812...6,703,403
Ensembl chr 5:6,699,877...6,703,659
JBrowse link
G TOB2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 5:7,086,397...7,098,643
Ensembl chr 5:7,086,587...7,098,627
JBrowse link
G XRCC6 X-ray repair cross complementing 6 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 5:6,903,496...6,929,162
Ensembl chr 5:6,903,496...6,929,083
JBrowse link
G ZC3H7B zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 5:7,148,624...7,201,429
Ensembl chr 5:7,148,633...7,201,056
JBrowse link
Common Variable Immunodeficiency 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MS4A1 membrane spanning 4-domains A1 ISO OMIM NCBI chr 2:11,216,238...11,229,060 JBrowse link
Common Variable Immunodeficiency 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD81 CD81 molecule ISO OMIM NCBI chr 2:1,625,728...1,641,662
Ensembl chr 2:1,506,652...1,641,667
JBrowse link
Common Variable Immunodeficiency 8, with Autoimmunity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRBA LPS responsive beige-like anchor protein ISO OMIM NCBI chr 8:77,970,087...78,680,307
Ensembl chr 8:77,970,069...78,680,275
JBrowse link
G MAB21L2 mab-21 like 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity ClinVar PMID:28492532 NCBI chr 8:78,385,176...78,388,008
Ensembl chr 8:78,381,994...78,387,069
JBrowse link
cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 susceptibility ISO associated with hepatitis C;DNA:SNP: :3435C>T(human) RGD PMID:28453396 RGD:14700902 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G CD86 CD86 molecule ISO associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human) RGD PMID:23840845 RGD:11354974 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,525...138,504,310
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO associated with hepatitis C; protein:increased expression:serum RGD PMID:18775023 RGD:27095893 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
JBrowse link
G LOC102161030 interferon lambda-4 severity ISO associated with Hepatitis C, Chronic;DNA:SNP:intron: (rs12979860) (human) RGD PMID:24293567 RGD:11528546 NCBI chr 6:47,946,679...47,948,710 JBrowse link
G TCN2 transcobalamin 2 ISO associated with Glomerulonephritis;protein:increased expression:serum: RGD PMID:3574578 RGD:11060121 NCBI chr14:47,496,245...47,515,966
Ensembl chr14:47,496,323...47,515,965
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum RGD PMID:19860001 RGD:10450529 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
cryoglobulinemic vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AICDA activation induced cytidine deaminase ISO associated with Chronic Hepatitis C; mRNA:increased expression:B cell RGD PMID:26219420 RGD:30296664 NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,483
JBrowse link
G TSLP thymic stromal lymphopoietin ISO associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human) RGD PMID:25889007 RGD:38596329 NCBI chr 2:115,832,152...115,837,572 JBrowse link
cutaneous T cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,365...84,123,384
JBrowse link
G ATM ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,554
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754746 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,187,260...54,228,144
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G CARD11 caspase recruitment domain family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 3:2,145,178...2,266,377
Ensembl chr 3:2,145,177...2,266,356
JBrowse link
G CCL20 C-C motif chemokine ligand 20 disease_progression ISO mRNA, protein:increased expression:skin, serum RGD PMID:22048239 RGD:7483601 NCBI chr15:129,172,743...129,176,069 JBrowse link
G CCL26 C-C motif chemokine ligand 26 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:20505746 RGD:11087556 NCBI chr 3:10,381,306...10,385,677
Ensembl chr 3:10,381,296...10,385,796
JBrowse link
G CCR6 C-C motif chemokine receptor 6 ISO mRNA, protein:increased expression:skin RGD PMID:22048239 RGD:7483601 NCBI chr 1:2,016,600...2,034,172
Ensembl chr 1:2,018,608...2,019,821
JBrowse link
G CD28 CD28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916, PMID:26258847 NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,208...107,162,943
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B disease_progression ISO DNA:deletion (human) RGD PMID:20118908 RGD:8552306 NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056
JBrowse link
G CTCF CCCTC-binding factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 6:28,188,002...28,261,009
Ensembl chr 6:28,195,668...28,261,009
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258847 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,609,139
JBrowse link
G FAS Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr14:100,927,305...100,954,781 JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:plasma RGD PMID:16428475 RGD:8655925 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G IL4 interleukin 4 ISO mRNA:increased expression:skin RGD PMID:7963654 RGD:7829823 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IRF4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 7:133,358...149,609
Ensembl chr 7:133,364...149,609
JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754746 NCBI chr 4:98,562,092...98,567,014
Ensembl chr 4:98,527,907...98,567,006
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr14:113,406,412...113,414,177
Ensembl chr14:113,406,004...113,414,173
JBrowse link
G P14ARF p14ARF protein disease_progression ISO DNA:deletion (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20118908, PMID:26192916 RGD:8552306 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
JBrowse link
G PLCG1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr17:43,810,003...43,844,553
Ensembl chr17:43,809,677...43,844,555
JBrowse link
G PRKCQ protein kinase C theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr10:64,442,588...64,596,528
Ensembl chr10:64,443,251...64,600,339
JBrowse link
G RHOA ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,836...32,003,722
JBrowse link
G STAT5B signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr12:20,498,103...20,574,365
Ensembl chr12:20,508,403...20,574,288
JBrowse link
G TNFAIP3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G ZEB1 zinc finger E-box binding homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr10:42,013,114...42,216,139
Ensembl chr10:42,013,045...42,214,205
JBrowse link
diffuse large B-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21325069 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21625222 NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,775,472...130,998,660
JBrowse link
G ALK ALK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr 3:109,411,146...110,105,755 JBrowse link
G B2M beta-2-microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7688627 NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582
JBrowse link
G BCAS2 BCAS2 pre-mRNA processing factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 4:105,992,558...106,003,160 JBrowse link
G BCL2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
G BCL6 BCL6 transcription repressor disease_progression ISO diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region RGD PMID:11821949, PMID:15701085 RGD:11530023, RGD:1600111 NCBI chr13:125,377,247...125,401,328
Ensembl chr13:125,377,248...125,393,330
JBrowse link
G CARD11 caspase recruitment domain family member 11 ISO DNA:missense mutations:exons:multiple (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18323416, PMID:25049379, PMID:26192916 RGD:11100036 NCBI chr 3:2,145,178...2,266,377
Ensembl chr 3:2,145,177...2,266,356
JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CCDC86 coiled-coil domain containing 86 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23828858 NCBI chr 2:10,895,649...10,906,196 JBrowse link
G CD40 CD40 molecule susceptibility ISO DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) RGD PMID:20473910 RGD:5490541 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD79A CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:25049379 NCBI chr 6:49,996,116...49,999,294
Ensembl chr 6:49,975,957...50,010,059
JBrowse link
G CD79B CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr12:15,052,966...15,056,441
Ensembl chr12:15,053,007...15,056,441
JBrowse link
G CDK1 cyclin dependent kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19223503 NCBI chr14:64,233,945...64,255,290
Ensembl chr14:64,233,988...64,395,453
JBrowse link
G CLTC clathrin heavy chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr12:35,848,894...35,926,028
Ensembl chr12:35,849,136...35,926,023
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20081860 NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,384,995...109,450,941
JBrowse link
G FAS Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr14:100,927,305...100,954,781 JBrowse link
G GLI1 GLI family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21625222 NCBI chr 5:22,736,325...22,747,421
Ensembl chr 5:22,732,516...22,747,421
JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression ISO proteion:increased expression:serum: RGD PMID:12598355 RGD:11354982 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IL21R interleukin 21 receptor ISO diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region RGD PMID:11821949 RGD:1600111 NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,344...19,489,152
JBrowse link
G IMMP2L inner mitochondrial membrane peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr18:34,006,841...34,930,252
Ensembl chr18:34,006,688...34,906,268
JBrowse link
G IRF4 interferon regulatory factor 4 disease_progression ISO RGD PMID:15701085 RGD:11530023 NCBI chr 7:133,358...149,609
Ensembl chr 7:133,364...149,609
JBrowse link
G KMT2D lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804550 NCBI chr 5:15,049,827...15,091,622 JBrowse link
G LOC100739163 glutathione S-transferase P-like susceptibility ISO DNA:SNP: :(rs1695)(human) RGD PMID:19338043 RGD:8547939 NCBI chr 2:4,978,761...4,982,233 JBrowse link
G MALT1 MALT1 paracaspase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr 1:162,076,933...162,144,915
Ensembl chr 1:162,076,951...162,144,880
JBrowse link
G MKI67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:20919850 RGD:6483541 NCBI chr14:137,266,622...137,296,312 JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human) RGD PMID:17712558 RGD:6893517 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25049379 NCBI chr13:22,976,951...22,979,568
Ensembl chr13:22,964,071...22,983,109
JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 6:51,317,386...51,358,665 JBrowse link
G NFKBIA NFKB inhibitor alpha no_association ISO SNA:polymorphism(s) RGD PMID:15198731 RGD:2298905 NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,508,016...64,558,057
JBrowse link
G NOM1 nucleolar protein with MIF4G domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr18:1,747,217...1,760,914 JBrowse link
G P14ARF p14ARF protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21325069 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
JBrowse link
G PDPK1 3-phosphoinositide dependent protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr 3:39,429,928...39,512,623
Ensembl chr 3:39,429,931...39,532,583
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
JBrowse link
G PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr13:79,427,033...79,610,840
Ensembl chr13:79,425,812...79,610,840
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,099,244
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
JBrowse link
G PRDX3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr14:129,079,050...129,090,790
Ensembl chr14:129,079,052...129,090,788
JBrowse link
G PRDX4 peroxiredoxin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr  X:19,800,153...19,819,575
Ensembl chr  X:19,797,596...19,823,406
JBrowse link
G RANGAP1 Ran GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27150054 NCBI chr 5:7,210,974...7,240,965
Ensembl chr 5:7,210,980...7,241,003
JBrowse link
G