Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
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 subfamily B member 1 susceptibility ISO DNA:snps, haplotype:multiple (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:22674224 RGD:8657089 NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
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 chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270
JBrowse link
G ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) disease_progression ISO mRNA:increased expression:mononuclear cell: RGD PMID:12100141, PMID:15521915 RGD:11081076, RGD:11081143 NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157
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 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
JBrowse link
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase susceptibility ISO RGD PMID:17065136 RGD:11100012 NCBI chr 9:104,354,115...104,399,057
Ensembl chr 9:132,989,574...133,010,324
JBrowse link
G AICDA activation induced cytidine deaminase treatment ISO RGD PMID:19759560 RGD:11039451 NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
JBrowse link
G ARID5B AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684603, PMID:19684604 NCBI chr10:58,426,519...58,621,986
Ensembl chr10:60,756,484...60,952,174
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 1:126,160,017...126,226,222
Ensembl chr 1:129,809,431...129,875,629
JBrowse link
G BAX BCL2 associated X, apoptosis regulator susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G BCL2 BCL2 apoptosis regulator severity ISO mRNA:increased expression:bone marrow (human) RGD PMID:25982455 RGD:11076595 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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 chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
JBrowse link
G BCR BCR activator of RhoGEF and GTPase susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
G CASP8 caspase 8 ISO CTD Direct Evidence: therapeutic CTD PMID:22010212 NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
JBrowse link
G CAST calpastatin ISO protein:increased expresssion:B cell RGD PMID:11264179 RGD:5509822 NCBI chr 5:91,972,572...92,084,657
Ensembl chr 5:97,527,071...97,636,650
JBrowse link
G CCND1 cyclin D1 ISO mRNA:increased expression:bone marrow (human) RGD PMID:22391157 RGD:11352824 NCBI chr11:64,737,006...64,750,353 JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:9292526 RGD:11352271 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202
JBrowse link
G CD46 CD46 molecule ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:16353080 RGD:11352810 NCBI chr 1:183,330,423...183,373,916
Ensembl chr 1:188,031,758...188,182,046
JBrowse link
G CD79B CD79b molecule ISO protein:decreased expression:bone marrow, mononuclear cell (human) RGD PMID:21487112 RGD:11250414 NCBI chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335
JBrowse link
G CD86 CD86 molecule severity ISO protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human) RGD PMID:24283754 RGD:11354967 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
JBrowse link
G CDK6 cyclin dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24736461 NCBI chr 7:84,603,419...84,835,082 JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A disease_progression
no_association
susceptibility
ISO CTD Direct Evidence: marker/mechanism
DNA:deletion: :
DNA:missense mutations:cds:
CTD
RGD
PMID:9204978, PMID:10090949, PMID:20453839, PMID:25675863, PMID:26104880 RGD:11057958, RGD:11251764, RGD:11252081, RGD:11252082 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684604 NCBI chr14:3,937,200...3,939,112
Ensembl chr14:22,033,654...22,035,219
JBrowse link
G CFB complement factor B ISO DNA:missense mutation:p.R32Q b(human) RGD PMID:6958349 RGD:11041155 NCBI chr 6:31,606,716...31,612,782 JBrowse link
G CREBBP CREB binding protein disease_progression ISO DNA:mutations:multiple RGD PMID:25917266 RGD:11060149 NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
JBrowse link
G CRLF2 cytokine receptor like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194 NCBI chr  X:933,459...957,950 JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO RGD PMID:9250830 RGD:11039038 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 severity ISO RGD PMID:8562939 RGD:734840 NCBI chr15:54,583,010...54,621,240
Ensembl chr15:74,177,909...74,200,498
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 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 chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr15:53,692,877...53,699,279
Ensembl chr15:73,311,720...73,319,447
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr2A:38,087,863...38,096,529 JBrowse link
G CYP2C8 cytochrome P450 family 2 subfamily C member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr10:91,646,387...91,679,998 JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11774269 Ensembl chr10:134,839,025...134,852,719 JBrowse link
G CYP3A5 cytochrome P450 family 3 subfamily A member 5 susceptibility
disease_progression
ISO DNA:polymorphism: : RGD PMID:19650988, PMID:22215203 RGD:11353796, RGD:11353805 NCBI chr 7:91,621,561...91,654,164
Ensembl chr 7:105,123,437...105,155,322
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 5:34,663,210...34,689,467
Ensembl chr 5:34,938,548...34,967,003
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha treatment ISO DNA:mutations:exon, intron:p.R882(human) RGD PMID:25242092 RGD:11041125 NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605
JBrowse link
G DNTT DNA nucleotidylexotransferase ISO protein:increased activity:peripheral blood,bone marrow: RGD PMID:7020399 RGD:8694149 NCBI chr10:92,916,783...92,958,216
Ensembl chr10:96,423,819...96,457,742
JBrowse link
G DPYD dihydropyrimidine dehydrogenase disease_progression
no_association
ISO DNA:splice-site mutation:intron:IVS14+1G>A (human)
DNA:SNPs: :2194G>A, 1156G>T (human)
DNA:SNP: :85T>C (human)
RGD PMID:26846104 RGD:11098453 NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100
JBrowse link
G ENG endoglin disease_progression ISO RGD PMID:17572488 RGD:11041565 NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
JBrowse link
G EPHX1 epoxide hydrolase 1 susceptibility
no_association
ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs:exon:rs1051740, rs2234922 (human)
DNA:missense mutation, haplotype:exon:p.Y113H (human)
DNA:polymorphisms:exon
DNA:missense mutation, haplotype:exon:p.H139R (human)
CTD
RGD
PMID:19593802, PMID:21983886, PMID:22200898, PMID:22930568 RGD:11252110, RGD:11252111, RGD:11252113, RGD:11252114 NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581
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 chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430
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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
JBrowse link
G ERG ETS transcription factor ERG ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776115 NCBI chr21:24,737,829...25,016,378
Ensembl chr21:38,087,339...38,281,403
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 chr12:11,675,955...11,920,913
Ensembl chr12:11,844,939...12,179,537
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:8429686 RGD:11340211 NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050
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 chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G FGA fibrinogen alpha chain ISO protein:increased expression:serum (human) RGD PMID:25317080 RGD:11040558 NCBI chr 4:146,949,680...146,957,291 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 chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940
JBrowse link
G FPGS folylpolyglutamate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25013492 NCBI chr 9:98,921,986...98,933,542
Ensembl chr 9:127,593,592...127,604,200
JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:blood: RGD PMID:19360458 RGD:11040460 NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326
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 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614
JBrowse link
G GPI glucose-6-phosphate isomerase ISO RGD PMID:6589021 RGD:11051848 NCBI chr19:31,301,469...31,355,362
Ensembl chr19:40,024,584...40,080,598
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:17317918, PMID:24698347 RGD:11352774, RGD:11352812 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
JBrowse link
G GSR glutathione-disulfide reductase ISO RGD PMID:24191316 RGD:11059506 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
JBrowse link
G GSTM1 glutathione S-transferase mu 1 disease_progression
susceptibility
no_association
ISO RGD PMID:10666194, PMID:12827651, PMID:14607752, PMID:15738600 RGD:10450829, RGD:10755321, RGD:10755409, RGD:10755410 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G GSTP1 glutathione S-transferase pi 1 disease_progression
no_association
susceptibility
ISO DNA:haplotype:cds:
DNA:polymorphism: :1578 a>G(human)
DNA:transition mutation:exon:
RGD PMID:10666194, PMID:15738600, PMID:23979883 RGD:10450829, RGD:10755321, RGD:10755417 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
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 6:25,891,079...25,891,859
Ensembl chr 6:26,549,016...26,549,657
JBrowse link
G HCK HCK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17344919 NCBI chr20:28,346,244...28,395,370
Ensembl chr20:29,474,737...29,523,399
JBrowse link
G HDAC1 histone deacetylase 1 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410
JBrowse link
G HDAC2 histone deacetylase 2 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004
JBrowse link
G HDAC4 histone deacetylase 4 treatment ISO RGD PMID:23948281 RGD:9681454 NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
JBrowse link
G HFE homeostatic iron regulator no_association ISO DNA:missense mutation:cds:p.C282Y (human)
DNA:missense mutation: :p.H63D (human)
DNA:missense mutation:cds:p.H63D (human)
RGD PMID:10627122, PMID:17107905 RGD:10755557, RGD:10755558 NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591
JBrowse link
G HK1 hexokinase 1 ISO protein:decreased activity:platelet RGD PMID:21921332 RGD:11353881 NCBI chr10:65,786,940...65,870,204
Ensembl chr10:68,289,288...68,401,045
JBrowse link
G HLF HLF transcription factor, PAR bZIP family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr17:49,353,790...49,413,676
Ensembl chr17:54,218,399...54,278,044
JBrowse link
G HOXD4 homeobox D4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to
CTD
ClinVar
PMID:15776434 NCBI chr2B:63,429,084...63,432,972 JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175
JBrowse link
G IFNG interferon gamma susceptibility ISO DNA:SNP: :rs2069727(human) RGD PMID:21067287 RGD:10755691 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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 7:50,946,817...51,047,168
Ensembl chr 7:51,191,685...51,291,245
JBrowse link
G IKZF2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr2B:100,255,430...100,407,395
Ensembl chr2B:218,737,506...218,882,087
JBrowse link
G IL10 interleukin 10 treatment ISO protein:decreased expression:blood RGD PMID:15860861, PMID:21653647 RGD:11049158, RGD:11049169 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IRF4 interferon regulatory factor 4 ISO DNA:SNP:intron:rs12203592 (human) RGD PMID:19897031 RGD:11526162 NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654
JBrowse link
G ITPA inosine triphosphatase no_association
treatment
ISO DNA:SNP:intron
DNA:SNPs:exon:94C>A, 138G>A (human)
RGD PMID:22009189 RGD:10766474 NCBI chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924
JBrowse link
G KDM2B lysine demethylase 2B ISO mRNA:increased expression:bone marrow (human) RGD PMID:21310926 RGD:9588255 NCBI chr12:119,027,633...119,183,779
Ensembl chr12:122,401,296...122,555,246
JBrowse link
G KDM3B lysine demethylase 3B ISO protein:increased expression:bone marrow, mononuclear cell (human) RGD PMID:22615488 RGD:9586728 NCBI chr 5:133,732,400...133,816,988
Ensembl chr 5:139,863,922...139,947,895
JBrowse link
G KDM6A lysine demethylase 6A severity ISO DNA:mutations:cds:multiple (human) RGD PMID:22377896 RGD:9684944 NCBI chr  X:37,313,000...37,548,630
Ensembl chr  X:45,127,382...45,362,029
JBrowse link
G KMT2A lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24736461, PMID:25730765 NCBI chr11:113,273,198...113,364,404 JBrowse link
G KRAS KRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:17910045, PMID:25917266 RGD:11060148, RGD:11060149 NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
JBrowse link
G LOC100971425 somatotropin treatment ISO RGD PMID:2494952 RGD:11352727 NCBI chr17:58,010,848...58,013,421 JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:polymorphisms, haplotypes:cds:multiple
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human)
RGD PMID:9744491, PMID:22434102 RGD:11041749, RGD:11041762 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G LOC100975642 zinc finger protein Aiolos ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr17:17,459,438...17,498,452
Ensembl chr17:17,643,750...17,741,479
JBrowse link
G LOC100976787 mismatch repair endonuclease PMS2 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 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984
JBrowse link
G LOC100986914 cytochrome b-245 light chain ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:19222940 RGD:11040545 NCBI chr16:69,356,396...69,364,225 JBrowse link
G MEFV MEFV innate immuity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M680I(human) RGD PMID:22942567 RGD:11531121 NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970
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 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility
disease_progression
no_association
ISO DNA:polymorphism: :2756A>G(human)
DNA:SNP::rs10925235(human)
DNA:polymorphism: :66A>G(human)
RGD PMID:15159311, PMID:21618417, PMID:22453148, PMID:26605150 RGD:11531136, RGD:11531137, RGD:11531140, RGD:11531141 NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs3776455(human)
DNA:haplotype:cds:
CTD
RGD
PMID:17136115, PMID:23940529 RGD:11531133, RGD:11531135 NCBI chr 5:8,195,868...8,228,071
Ensembl chr 5:8,017,403...8,049,322
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:25784651 RGD:11532748 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility
no_association
ISO DNA:polymorphisms: :
DNA:polymorphisms,haplotype: :
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:21888617, PMID:22200898, PMID:22215203, PMID:25804798 RGD:11353805, RGD:11532767, RGD:11532769 NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327
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 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307
JBrowse link
G NOS3 nitric oxide synthase 3 disease_progression
susceptibility
ISO DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human)
DNA:SNP: :rs3918186(human)
RGD PMID:20510681, PMID:23922896 RGD:11533639, RGD:11533646 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO DNA:mutation: :609C>T (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human)
RGD
CTD
PMID:11774269, PMID:17332311, PMID:18444911 RGD:10769347, RGD:10769359 NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731
JBrowse link
G NRAS NRAS proto-oncogene, GTPase disease_progression ISO DNA:missense mutation:cds: RGD PMID:25204082 RGD:11535045 NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:24076604 NCBI chr 4:2,009,276...2,119,182
Ensembl chr 4:1,945,307...2,027,425
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO CTD Direct Evidence: marker/mechanism CTD PMID:23377183 NCBI chr10:99,687,366...99,790,744
Ensembl chr10:103,148,578...103,251,513
JBrowse link
G NUP214 nucleoporin 214 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 9:102,246,575...102,355,291
Ensembl chr 9:130,893,110...131,001,305
JBrowse link
G PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr 8:77,492,087...77,635,854
Ensembl chr 8:79,123,503...79,218,100
JBrowse link
G PAX5 paired box 5 susceptibility ISO ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to, 3
ClinVar Annotator: match by term: Acute lymphoid leukemia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:24013638, PMID:25741868, PMID:26214592 NCBI chr 9:36,677,369...36,876,678
Ensembl chr 9:37,474,267...37,673,684
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 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
JBrowse link
G PRDM14 PR/SET domain 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043588 NCBI chr 8:66,578,674...66,599,360
Ensembl chr 8:68,240,741...68,260,263
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752
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 1:179,466,263...179,474,779 JBrowse link
G TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 1:46,524,484...46,540,595
Ensembl chr 1:48,042,594...48,048,622
JBrowse link
G TCF3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 Ensembl chr19:1,582,297...1,622,025 JBrowse link
G TCN2 transcobalamin 2 ISO protein:altered activity:plasma: RGD PMID:8754152 RGD:11059889 NCBI chr22:11,635,107...11,655,137
Ensembl chr22:29,435,517...29,455,494
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 chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
JBrowse link
G TM9SF2 transmembrane 9 superfamily member 2 ISO mRNA:increased expression:bone marrow, mononuclear cells (human) RGD PMID:12730115 RGD:2317244 NCBI chr13:80,669,277...80,731,340
Ensembl chr13:99,807,555...99,869,456
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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 6:17,977,544...18,002,839
Ensembl chr 6:18,330,000...18,355,157
JBrowse link
G TYMS thymidylate synthetase treatment ISO DNA:repeats: : rs347430033(human) RGD PMID:25007187 RGD:11080979 NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320
JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility
no_association
ISO DNA:missense mutation, haplotype: :p.R399Q (human)
DNA:missense mutation: :p.R399Q (human)
DNA:missense mutation: :p.R194W (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19101034, PMID:21983886 RGD:11252110, RGD:11252192 NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
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 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
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 NCBI chr  X:933,459...957,950 JBrowse link
G CYP2B6 cytochrome P450 family 2 subfamily B member 6 susceptibility ISO DNA:polymorphism:G15631T RGD PMID:19144407 RGD:6480472 NCBI chr19:38,003,083...38,028,980
Ensembl chr19:46,509,370...46,534,672
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 chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904
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 chr 5:74,489,188...74,516,330
Ensembl chr 5:79,769,859...79,792,612
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 9:5,007,158...5,029,056
Ensembl chr 9:5,192,023...5,213,827
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 1:64,083,562...64,315,909
Ensembl chr 1:65,973,904...66,024,991
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 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
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 chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964
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 chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
JBrowse link
G LOC100978529 myosin-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 chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
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 chr11:36,483,697...36,546,242
Ensembl chr11:36,412,420...36,422,904
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 chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159
JBrowse link
G BMP6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18688853 NCBI chr 6:7,564,164...7,720,341
Ensembl chr 6:7,848,249...8,000,649
JBrowse link
G CARD11 caspase recruitment domain family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 7:3,166,788...3,304,729
Ensembl chr 7:3,258,736...3,332,999
JBrowse link
G CCR4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 3:32,882,419...32,887,442
Ensembl chr 3:33,188,482...33,189,564
JBrowse link
G CCR7 C-C motif chemokine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr17:16,720,236...16,731,955
Ensembl chr17:16,949,119...16,956,370
JBrowse link
G CD28 CD28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr2B:90,938,795...90,971,438
Ensembl chr2B:209,076,388...209,111,213
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chr 3:116,646,590...116,683,725
Ensembl chr 3:123,559,559...123,594,870
JBrowse link
G CD86 CD86 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
JBrowse link
G CSNK1A1 casein kinase 1 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 5:144,919,775...144,977,105
Ensembl chr 5:150,929,420...150,985,912
JBrowse link
G CSNK2A1 casein kinase 2 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr20:689,494...752,092
Ensembl chr20:456,629...521,126
JBrowse link
G CSNK2B casein kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 6:31,327,250...31,331,250 JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G FAS Fas cell surface death receptor susceptibility ISO protein:increased expression:peripheral blood mononuclear cell:
DNA:polymorphism:promoter: -670 G>A(human)
RGD PMID:7513372, PMID:17962369 RGD:11049147, RGD:11049453 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029
JBrowse link
G FYN FYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 6:109,469,750...109,684,086
Ensembl chr 6:113,545,944...113,604,451
JBrowse link
G GATA3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr10:8,075,951...8,105,573
Ensembl chr10:8,064,207...8,086,272
JBrowse link
G GPR183 G protein-coupled receptor 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr13:80,461,908...80,475,046
Ensembl chr13:99,601,220...99,602,305
JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 7:26,835,881...26,846,578
Ensembl chr 7:26,439,443...26,449,985
JBrowse link
G ICOS inducible T cell costimulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr2B:91,168,998...91,193,808
Ensembl chr2B:209,307,938...209,332,734
JBrowse link
G IFNG interferon gamma treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:8800741, PMID:23962110 RGD:10755707 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IKZF2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr2B:100,255,430...100,407,395
Ensembl chr2B:218,737,506...218,882,087
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:8704212, PMID:23962110 RGD:11049460 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
JBrowse link
G IL5 interleukin 5 disease_progression ISO protein:increased expression:serum RGD PMID:16425276 RGD:11354942 NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum (human) RGD PMID:10374863 RGD:11060275 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G IRF4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654
JBrowse link
G JAK3 Janus kinase 3 ISO DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) RGD PMID:21821710 RGD:11531131 NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964
JBrowse link
G LOC100972354 interferon alpha-2 ISO CTD Direct Evidence: therapeutic CTD PMID:12560223, PMID:17077332 NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736
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 6:132,952,728...132,990,560
Ensembl chr 6:137,048,812...137,086,194
JBrowse link
G NOTCH1 notch receptor 1 ISO DNA:mutations:multiple (human) RGD PMID:16707600 RGD:1580759 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
JBrowse link
G NRAS NRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:21586752 RGD:11535055 NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
JBrowse link
G PLCG1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr20:37,477,077...37,515,854
Ensembl chr20:38,572,709...38,615,145
JBrowse link
G PRKCB protein kinase C beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr16:13,888,936...14,268,759
Ensembl chr16:24,091,289...24,466,203
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24090995 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
JBrowse link
G TERF2 telomeric repeat binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643074 NCBI chr16:49,729,906...49,763,002
Ensembl chr16:69,116,539...69,148,423
JBrowse link
G TLX1 T cell leukemia homeobox 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:1683261, PMID:1717256 RGD:1599439 NCBI chr10:97,731,715...97,738,978
Ensembl chr10:101,207,374...101,214,625
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822
JBrowse link
G TP73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
JBrowse link
G VAV1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr19:5,805,121...5,888,203
Ensembl chr19:6,726,578...6,806,112
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 chr10:92,803,408...92,936,868
Ensembl chr10:96,316,103...96,391,067
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:90,551,874...90,588,786
Ensembl chr  X:100,684,017...100,725,187
JBrowse link
G CD19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 Ensembl chr16:29,320,734...29,327,481 JBrowse link
G CD79A CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:38,765,067...38,769,556
Ensembl chr19:47,270,377...47,274,711
JBrowse link
G CD79B CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335
JBrowse link
G IGLL1 immunoglobulin lambda like polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD
G LRRC8A leucine rich repeat containing 8 VRAC subunit A ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:14660746 RGD:1599837 NCBI chr 9:100,003,969...100,039,859
Ensembl chr 9:128,670,292...128,705,466
JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Hypogammaglobulinemia ClinVar PMID:25741868, PMID:28782633 NCBI chr 3:125,091,916...125,111,238
Ensembl chr 3:132,457,005...132,476,935
JBrowse link
G TCF3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD Ensembl chr19:1,582,297...1,622,025 JBrowse link
Agammaglobulinemia 2, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGLL1 immunoglobulin lambda like polypeptide 1 ISO OMIM
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 chr19:38,765,067...38,769,556
Ensembl chr19:47,270,377...47,274,711
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 chr10:92,803,408...92,936,868
Ensembl chr10:96,316,103...96,391,067
JBrowse link
G ZNF518A zinc finger protein 518A ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr10:92,743,048...92,818,154 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 9:100,003,969...100,039,859
Ensembl chr 9:128,670,292...128,705,466
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 chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335
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 chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960
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 Ensembl chr19:1,582,297...1,622,025 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:90,551,874...90,588,786
Ensembl chr  X:100,684,017...100,725,187
JBrowse link
G CD79A CD79a molecule ISO ClinVar Annotator: match by term: Agammaglobulinemia, non-Bruton type ClinVar PMID:25741868 NCBI chr19:38,765,067...38,769,556
Ensembl chr19:47,270,377...47,274,711
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 chr2A:29,196,195...29,930,062
Ensembl chr2A:29,276,041...30,006,735
JBrowse link
G HSP90AA1 heat shock protein 90 alpha family class A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157164 NCBI chr14:82,700,881...82,707,020
Ensembl chr14:102,519,699...102,576,723
JBrowse link
G IRF4 interferon regulatory factor 4 ISO DNA:translocation RGD PMID:18987657 RGD:11526155 NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654
JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:12145210 RGD:1549449 NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261581 NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10908157, PMID:17261581 NCBI chr 1:10,813,111...10,893,005
Ensembl chr 1:12,029,038...12,108,495
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr 7:19,761,041...19,765,665 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 chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080
JBrowse link
G ANKRD22 ankyrin repeat domain 22 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr10:85,546,939...85,577,698
Ensembl chr10:89,048,724...89,081,637
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 chr2B:88,440,199...88,479,277
Ensembl chr2B:206,595,776...206,641,775
JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
JBrowse link
G CH25H cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr10:85,930,638...85,932,065
Ensembl chr10:89,471,441...89,472,259
JBrowse link
G FAS Fas cell surface death receptor ISO OMIM NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G FASLG Fas ligand ISO OMIM NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
JBrowse link
G IFIT2 interferon induced protein with tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr10:86,027,170...86,034,246
Ensembl chr10:89,566,827...89,573,795
JBrowse link
G IFIT3 interferon induced protein with tetratricopeptide repeats 3 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr10:86,053,139...86,066,193
Ensembl chr10:89,592,578...89,605,800
JBrowse link
G LIPA lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
JBrowse link
G LIPM lipase family member M ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr10:85,528,337...85,547,789
Ensembl chr10:89,031,764...89,049,607
JBrowse link
G LIPN lipase family member N ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr10:85,485,727...85,505,268
Ensembl chr10:88,990,571...89,007,327
JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:21376533 RGD:13204846 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
JBrowse link
G STAMBPL1 STAM binding protein like 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr10:85,605,651...85,649,268
Ensembl chr10:89,109,356...89,152,628
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 chr2B:88,440,199...88,479,277
Ensembl chr2B:206,595,776...206,641,775
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 chr2B:88,440,199...88,479,277
Ensembl chr2B:206,595,776...206,641,775
JBrowse link
G CASP8 caspase 8 ISO OMIM NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
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 chr 3:53,104,137...53,135,588
Ensembl chr 3:54,330,328...54,357,910
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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO OMIM NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
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 chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1b ClinVar PMID:8787672, PMID:25741868 NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
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 chr2B:90,938,795...90,971,438
Ensembl chr2B:209,076,388...209,111,213
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO OMIM NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
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 chr2B:91,168,998...91,193,808
Ensembl chr2B:209,307,938...209,332,734
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 chr2B:90,664,717...90,766,088
Ensembl chr2B:208,765,847...208,865,624
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 chr18:55,695,394...55,761,307
Ensembl chr18:59,034,770...59,075,044
JBrowse link
B-Cell Chronic Lymphocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) susceptibility ISO DNA:SNPs,haplotype: :rs1481012,rs2231142(human) RGD PMID:21918980 RGD:11080977 NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157
JBrowse link
G ACOXL acyl-CoA oxidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr2A:90,912,247...91,300,770
Ensembl chr2A:111,985,358...112,335,160
JBrowse link
G AICDA activation induced cytidine deaminase disease_progression ISO RGD PMID:21133730 RGD:11039455 NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
JBrowse link
G APOE apolipoprotein E disease_progression ISO RGD PMID:18784741 RGD:11040549 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G ATM ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17968022 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G BCL11A BAF chromatin remodeling complex subunit BCL11A ISO DNA:translocation:5' utr: (human) RGD PMID:11719382 RGD:11100004 NCBI chr2A:60,552,908...60,655,437
Ensembl chr2A:61,695,613...61,795,800
JBrowse link
G BCL2 BCL2 apoptosis regulator severity
no_association
treatment
ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:B cell (human)
DNA:snp:promoter:g.-938C>A (human)
CTD
RGD
PMID:16960146, PMID:17296974, PMID:17959858, PMID:20001236, PMID:21750559, PMID:23770605 RGD:11522735, RGD:11526104, RGD:11526105, RGD:11526110 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G BMF Bcl2 modifying factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr15:19,026,053...19,047,008
Ensembl chr15:37,281,655...37,302,075
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 chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
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:90,551,874...90,588,786
Ensembl chr  X:100,684,017...100,725,187
JBrowse link
G C11H11orf21 chromosome 11 C11orf21 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr11:2,332,841...2,348,227
Ensembl chr11:2,361,217...2,367,568
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 chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671
JBrowse link
G CCDC50 coiled-coil domain containing 50 ISO RGD PMID:19641524 RGD:9685139 NCBI chr 3:188,621,004...188,686,831
Ensembl chr 3:196,968,817...197,031,790
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
JBrowse link
G CD40LG CD40 ligand ISO mouse-human chimeric gene in human RGD PMID:20882050 RGD:11352235 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202
JBrowse link
G CD5 CD5 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr11:56,362,415...56,388,469
Ensembl chr11:59,801,808...59,826,448
JBrowse link
G CD79B CD79b molecule ISO protein:decreased expression:B lymphocyte, cell surface (human) RGD PMID:9269755 RGD:11250403 NCBI chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335
JBrowse link
G CD86 CD86 molecule severity ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25179679 RGD:11354969 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr15:62,949,264...63,053,994
Ensembl chr15:80,443,096...80,526,948
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 chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO RGD PMID:18077792 RGD:11251735 NCBI chr  X:144,243,493...144,257,419
Ensembl chr  X:154,084,412...154,098,475
JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA:decreased expression: B cell RGD PMID:15467427 RGD:9589146 NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487
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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
JBrowse link
G FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr2B:128,627,208...128,766,233
Ensembl chr2B:247,438,265...247,559,735
JBrowse link
G FAS Fas cell surface death receptor disease_progression ISO RGD PMID:12901972 RGD:11049461 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
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 chr11:537,488...540,810
Ensembl chr11:568,305...571,078
JBrowse link
G ICAM1 intercellular adhesion molecule 1 severity ISO RGD PMID:7658704 RGD:11354983 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IFNG interferon gamma susceptibility ISO DNA:polymorphism: :847A>T(human) RGD PMID:19757192 RGD:10755703 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IL10 interleukin 10 disease_progression
no_association
ISO protein:increased expression:serum
DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)
DNA:SNPs: :multiple
RGD PMID:10638947, PMID:19573080, PMID:22945689 RGD:11041895, RGD:11049165, RGD:11049174 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 1:182,372,339...182,446,147
Ensembl chr 1:186,651,640...186,724,748
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:19074885 RGD:11051968 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G IL1B interleukin 1 beta severity ISO DNA:SNP:promoter:-511C>T (human)
protein:decreased expression:plasma:
RGD PMID:10870116, PMID:18271063 RGD:11051967, RGD:11522755 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:plasma:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10870116, PMID:18006695 RGD:11522755 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G IRF4 interferon regulatory factor 4 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12079517, PMID:12393648, PMID:18758461 RGD:11526160, RGD:11530024 NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654
JBrowse link
G ITGA4 integrin subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21093051 NCBI chr2B:68,719,376...68,802,488
Ensembl chr2B:186,530,187...186,612,203
JBrowse link
G KLRC4 killer cell lectin like receptor C4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr12:10,418,672...10,449,250 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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 4:100,552,959...100,674,156
Ensembl chr 4:111,125,312...111,245,980
JBrowse link
G LILRA4 leukocyte immunoglobulin like receptor A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr19:51,287,944...51,294,118
Ensembl chr19:60,128,447...60,134,248
JBrowse link
G LOC100990650 guanine nucleotide-binding protein G(s) subunit alpha disease_progression ISO DNA:polymorphism:393T>C (human) RGD PMID:17020971 RGD:1601379 NCBI chr20:55,190,607...55,262,245 JBrowse link
G LOC100991079 interleukin-1 receptor antagonist protein ISO protein:decreased expression:plasma: RGD PMID:10870116 RGD:11522755 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar Annotator: match by term: B-cell 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 chr11:514,227...559,838
Ensembl chr11:575,495...588,750
JBrowse link
G MS4A1 membrane spanning 4-domains A1 ISO RGD PMID:19911856 RGD:2316994 NCBI chr11:55,691,750...55,706,697
Ensembl chr11:59,134,617...59,149,521
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16706930 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
JBrowse link
G P2RX7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11003599 NCBI chr12:118,731,761...118,786,039
Ensembl chr12:122,102,888...122,154,068
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 chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067
JBrowse link
G PLCG2 phospholipase C gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27542411 NCBI chr16:62,383,270...62,561,579
Ensembl chr16:81,812,565...81,984,064
JBrowse link
G PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr18:53,286,590...53,290,913 JBrowse link
G POLB DNA polymerase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 8:41,582,370...41,615,950
Ensembl chr 8:39,026,991...39,060,464
JBrowse link
G PPP2R5C protein phosphatase 2 regulatory subunit B'gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr14:82,383,086...82,549,822
Ensembl chr14:102,206,396...102,372,978
JBrowse link
G PRKD2 protein kinase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr19:43,666,591...43,710,858
Ensembl chr19:52,195,303...52,237,731
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16314473 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G QPCT glutaminyl-peptide cyclotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr2A:37,371,848...37,400,820
Ensembl chr2A:38,136,532...38,165,254
JBrowse link
G RBL2 RB transcriptional corepressor like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr16:33,674,751...33,731,308
Ensembl chr16:52,759,290...52,816,175
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 chr2B:84,633,272...84,678,602
Ensembl chr2B:202,530,200...202,573,346
JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr11:61,416,764...61,433,334
Ensembl chr11:64,743,629...64,759,772
JBrowse link
G SP140 SP140 nuclear body protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr2B:117,477,923...117,565,367
Ensembl chr2B:236,279,460...236,366,314
JBrowse link
G TERT telomerase reverse transcriptase disease_progression ISO RGD PMID:17344921 RGD:11038662 NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
JBrowse link
G TFRC transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998
JBrowse link
G THBD thrombomodulin ISO RGD PMID:21812019 RGD:5685033 NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812
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 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFRSF10A TNF receptor superfamily member 10a susceptibility ISO DNA:SNP: :1322A>G (human)
DNA:missense mutation:cds:p.E228A (c.683A>C) (human)
RGD PMID:15531454, PMID:16217763 RGD:11038717, RGD:11038718 NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724
JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr18:55,695,394...55,761,307
Ensembl chr18:59,034,770...59,075,044
JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr13:23,750,835...23,784,740 JBrowse link
G TNFSF13 TNF superfamily member 13 ISO protein:increased expression:serum RGD PMID:15488762 RGD:1549466 NCBI chr17:7,589,931...7,593,527
Ensembl chr17:7,576,465...7,579,834
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822
JBrowse link
G TOPBP1 DNA topoisomerase II binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 3:130,667,998...130,729,569
Ensembl chr 3:138,143,893...138,203,363
JBrowse link
G TP53 tumor protein p53 disease_progression ISO DNA:deletion: :
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1359493, PMID:1565143, PMID:1565144, PMID:1631137, PMID:1679237, PMID:1683921, PMID:1978757, PMID:2046748, PMID:2531845, PMID:2554494, PMID:2826609, PMID:7651740, PMID:7732013, PMID:7791795, PMID:7887414, PMID:8023157, PMID:8062826, PMID:8099841, PMID:8164043, PMID:8242631, PMID:8423216, PMID:8425176, PMID:8479749, PMID:8527048, PMID:8718514, PMID:8825920, PMID:9242456, PMID:9290701, PMID:9364015, PMID:9407971, PMID:9546439, PMID:9569050, PMID:9598730, PMID:9627118, PMID:9632751, PMID:9825943, PMID:9839505, PMID:10064694, PMID:10411893, PMID:10519380, PMID:10761705, PMID:10797439, PMID:10864200, PMID: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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G VDR vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12446453 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
JBrowse link
G XPO1 exportin 1 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr2A:61,562,372...61,622,841
Ensembl chr2A:62,698,935...62,757,793
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 chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
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 chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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 subfamily G member 2 (Junior blood group) susceptibility ISO DNA:SNP: :rs6857600(human) RGD PMID:21918980 RGD:11080977 NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157
JBrowse link
G AICDA activation induced cytidine deaminase ISO RGD PMID:17251349 RGD:11039449 NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
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 chr 3:184,748,135...184,772,375
Ensembl chr 3:193,308,296...193,332,124
JBrowse link
G BRD2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr 6:32,538,130...32,550,823
Ensembl chr 6:33,657,648...33,666,031
JBrowse link
G BTK Bruton tyrosine kinase treatment ISO RGD PMID:25662332 RGD:11040764 NCBI chr  X:90,551,874...90,588,786
Ensembl chr  X:100,684,017...100,725,187
JBrowse link
G CBX7 chromobox 7 ISO RGD PMID:17374722 RGD:11352707 NCBI chr22:20,037,529...20,059,459
Ensembl chr22:37,854,056...37,876,084
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
JBrowse link
G CSF2 colony stimulating factor 2 treatment ISO RGD PMID:8469286 RGD:10450244 NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11042651 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
JBrowse link
G EAF2 ELL associated factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20564326 NCBI chr 3:118,936,685...118,996,051
Ensembl chr 3:125,844,338...125,895,416
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit severity ISO RGD PMID:23982173 RGD:10755356 NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
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 Ensembl chr16:27,774,864...27,821,769 JBrowse link
G JAK3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24837469 NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964
JBrowse link
G KAT5 lysine acetyltransferase 5 severity ISO RGD PMID:17728759 RGD:9588481 NCBI chr11:61,071,118...61,078,667
Ensembl chr11:64,404,572...64,412,667
JBrowse link
G LGALS1 galectin 1 ISO protein:increased expression:primary tumor (rat) RGD PMID:16733672 RGD:2316550 NCBI chr22:18,593,154...18,597,432
Ensembl chr22:36,426,228...36,430,356
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14633661 NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14654083 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24531327 NCBI chr20:46,854,918...46,929,509
Ensembl chr20:47,983,098...48,057,421
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822
JBrowse link
G TNFSF9 TNF superfamily member 9 ISO RGD PMID:10202049 RGD:2317349 NCBI chr19:5,558,021...5,562,901
Ensembl chr19:6,476,941...6,483,352
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 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
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 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
JBrowse link
G ATF7IP activating transcription factor 7 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr12:14,373,084...14,504,286
Ensembl chr12:14,789,794...14,900,411
JBrowse link
G BCL2L1 BCL2 like 1 severity ISO RGD PMID:18216295 RGD:11531108 NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
JBrowse link
G BRD2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr 6:32,538,130...32,550,823
Ensembl chr 6:33,657,648...33,666,031
JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24154679 NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077
JBrowse link
G CCND1 cyclin D1 ISO mRNA:increased expression:B cell (mouse) RGD PMID:23169640 RGD:11353783 NCBI chr11:64,737,006...64,750,353 JBrowse link
G CDH1 cadherin 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A 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 9:21,803,862...21,831,322 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 chr22:9,757,038...9,811,171 JBrowse link
G CRLF2 cytokine receptor like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr  X:933,459...957,950 JBrowse link
G CYP3A5 cytochrome P450 family 3 subfamily A member 5 treatment ISO DNA:polymorphisms: : RGD PMID:21225912 RGD:11353807 NCBI chr 7:91,621,561...91,654,164
Ensembl chr 7:105,123,437...105,155,322
JBrowse link
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 chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496
JBrowse link
G ETV6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15217836, PMID:24413735, PMID:25807284 NCBI chr12:11,675,955...11,920,913
Ensembl chr12:11,844,939...12,179,537
JBrowse link
G F13A1 coagulation factor XIII A chain ISO protein:increased expression:B lymphoblast: RGD PMID:16894461 RGD:11041855 NCBI chr 6:5,978,505...6,156,705
Ensembl chr 6:6,157,926...6,513,961
JBrowse link
G F3 coagulation factor III, tissue factor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050
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 chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212
JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 ISO mRNA,protein:increased expression:bone marrow: RGD PMID:8562934 RGD:11049466 NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940
JBrowse link
G GATA3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr10:8,075,951...8,105,573
Ensembl chr10:8,064,207...8,086,272
JBrowse link
G IKZF1 IKAROS family zinc finger 1 disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:mutations: :
CTD
RGD
PMID:22699455, PMID:24141364 RGD:11075072 NCBI chr 7:50,946,817...51,047,168
Ensembl chr 7:51,191,685...51,291,245
JBrowse link
G IL5 interleukin 5 ISO RGD PMID:15368290 RGD:7241068 NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675
JBrowse link
G IRF4 interferon regulatory factor 4 ISO RGD PMID:20585039, PMID:21818355, PMID:25006123 RGD:11526159, RGD:11530020, RGD:11530030 NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654
JBrowse link
G IRF8 interferon regulatory factor 8 ISO RGD PMID:20585039 RGD:11530030 NCBI chr16:66,568,370...66,591,949
Ensembl chr16:85,905,334...85,929,073
JBrowse link
G MGA MAX dimerization protein MGA ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr15:20,560,842...20,710,269
Ensembl chr15:38,839,708...38,948,847
JBrowse link
G MYB MYB proto-oncogene, transcription factor disease_progression ISO mRNA:splice variants:cds: RGD PMID:21853052 RGD:11532669 NCBI chr 6:132,952,728...132,990,560
Ensembl chr 6:137,048,812...137,086,194
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:22120021 RGD:7207416 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
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 chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295
JBrowse link
G PAX5 paired box 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24013638, PMID:30643249 NCBI chr 9:36,677,369...36,876,678
Ensembl chr 9:37,474,267...37,673,684
JBrowse link
G PBX1 PBX homeobox 1 ISO OMIM NCBI chr 1:139,985,392...140,311,845
Ensembl chr 1:143,778,701...144,104,797
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha treatment ISO RGD PMID:22447844 RGD:11075097 NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097
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 chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
JBrowse link
G RUNX1 RUNX family transcription factor 1 onset ISO DNA:amplification RGD PMID:21822204 RGD:6482828 NCBI chr21:21,159,586...21,423,946
Ensembl chr21:34,530,956...34,788,544
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19796711 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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 Ensembl chr19:1,188,537...1,210,677 JBrowse link
G TCF3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246562 Ensembl chr19:1,582,297...1,622,025 JBrowse link
G TFPI tissue factor pathway inhibitor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chr2B:74,744,154...74,834,338
Ensembl chr2B:192,541,881...192,581,384
JBrowse link
G TNFSF13 TNF superfamily member 13 ISO RGD PMID:15488762 RGD:1549466 NCBI chr17:7,589,931...7,593,527
Ensembl chr17:7,576,465...7,579,834
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822
JBrowse link
G TP53 tumor protein p53 disease_progression ISO DNA:mutations: : RGD PMID:22699455 RGD:11075072 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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 chr11:32,349,807...32,398,494 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 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
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 chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
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 chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
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 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
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 chr10:83,185,040...83,353,239
Ensembl chr10:86,837,469...86,912,912
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 chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
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 chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
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 chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
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 chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117
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 chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
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 chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961
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 chr2A:29,196,195...29,930,062
Ensembl chr2A:29,276,041...30,006,735
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 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
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 chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
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 chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
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 chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671
JBrowse link
G LOC100977025 dual specificity mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:25741868 NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933
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 chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
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 chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331
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 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
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 chr19:30,223,567...30,226,204 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 chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331
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 chr 5:192,786...234,089 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 chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
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 chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961
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 chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
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:snp:cds:p.E383G (human)
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (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 chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773
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 chr22:23,587,378...23,615,467
Ensembl chr22:41,739,062...41,740,123
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
JBrowse link
G BBC3 BCL2 binding component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18573879 NCBI chr19:44,203,517...44,215,860 JBrowse link
G CCT6B chaperonin containing TCP1 subunit 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr17:21,825,636...21,875,619
Ensembl chr17:22,117,492...22,152,205
JBrowse link
G CD40 CD40 molecule treatment ISO human cell line in a mouse model RGD PMID:9192773 RGD:11520790 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr21:32,481,042...32,501,932
Ensembl chr21:45,734,825...45,753,400
JBrowse link
G GNA13 G protein subunit alpha 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr17:58,957,682...59,005,182 JBrowse link
G ID3 inhibitor of DNA binding 3, HLH protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143595, PMID:23143597 NCBI chr 1:22,748,714...22,750,582
Ensembl chr 1:23,734,263...23,736,175
JBrowse link
G LOC100976787 mismatch repair endonuclease PMS2 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 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO OMIM NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
JBrowse link
G PBX1 PBX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982, PMID:17244677 NCBI chr 1:139,985,392...140,311,845
Ensembl chr 1:143,778,701...144,104,797
JBrowse link
G PC pyruvate carboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr11:62,205,644...62,317,917
Ensembl chr11:65,527,662...65,551,396
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960
JBrowse link
G RET ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331
JBrowse link
G SALL3 spalt like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr18:72,381,249...72,403,789 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 chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952
JBrowse link
G TCF3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982, PMID:17244677 Ensembl chr19:1,582,297...1,622,025 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 7:23,415,922...23,420,767 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 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
childhood acute lymphocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100976787 mismatch repair endonuclease PMS2 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 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984
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 9:4,541,984...4,576,341
Ensembl chr 9:4,732,847...4,762,900
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 chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
JBrowse link
G BTK Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:24869598, PMID:28492532 NCBI chr  X:90,551,874...90,588,786
Ensembl chr  X:100,684,017...100,725,187
JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:9450802 RGD:11522717 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202
JBrowse link
G CD86 CD86 molecule ISO DNA:hypermethylation (human) RGD PMID:23154584 RGD:11354975 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
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 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
JBrowse link
G HRAS HRas proto-oncogene, GTPase 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 chr11:537,488...540,810
Ensembl chr11:568,305...571,078
JBrowse link
G IL5 interleukin 5 ISO protein:increased expression:serum RGD PMID:21911837 RGD:11354912 NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675
JBrowse link
G IRF4 interferon regulatory factor 4 disease_progression ISO DNA:SNPs:3' utr:multiple
DNA:SNP: :rs872071 (human)
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 6:206,282...226,487
Ensembl chr 6:342,718...356,654
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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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 chr11:514,227...559,838
Ensembl chr11:575,495...588,750
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:20956327 RGD:11340590 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
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 chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572
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 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
JBrowse link
G PLCG2 phospholipase C gamma 2 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:24869598 NCBI chr16:62,383,270...62,561,579
Ensembl chr16:81,812,565...81,984,064
JBrowse link
G PON1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26254371 RGD:11073982 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
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 chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
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 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830
JBrowse link
G SF3B1 splicing factor 3b subunit 1 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:23634996, PMID:26619011 NCBI chr2B:84,633,272...84,678,602
Ensembl chr2B:202,530,200...202,573,346
JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr11:61,416,764...61,433,334
Ensembl chr11:64,743,629...64,759,772
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 chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar Annotator: match by term: Chronic lymphocytic 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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G XPO1 exportin 1 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr2A:61,562,372...61,622,841
Ensembl chr2A:62,698,935...62,757,793
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 7:68,230,804...68,251,369
Ensembl chr 7:82,221,846...82,242,874
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362
JBrowse link
G GFRA1 GDNF family receptor alpha 1 ISO RGD PMID:9853108 RGD:6218983 NCBI chr10:112,645,574...112,862,413
Ensembl chr10:116,079,063...116,295,164
JBrowse link
G IL5 interleukin 5 severity ISO RGD PMID:22772323 RGD:6892720 NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO RGD PMID:22772323 RGD:6892720 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
JBrowse link
G VTN vitronectin ISO RGD PMID:12126637 RGD:1580817 NCBI chr17:28,403,813...28,407,202
Ensembl chr17:28,906,508...28,909,583
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 Ensembl chr16:29,320,734...29,327,481 JBrowse link
G CD40LG CD40 ligand ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202
JBrowse link
G CD81 CD81 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:2,400,503...2,421,132
Ensembl chr11:2,437,991...2,449,308
JBrowse link
G CR2 complement C3d receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:183,052,798...183,088,385
Ensembl chr 1:187,330,483...187,366,069
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 chr10:14,901,335...14,956,947
Ensembl chr10:15,236,558...15,269,043
JBrowse link
G FCGR2A Fc fragment of IgG receptor IIa ISO protein:decreased expression:blood, monocyte RGD PMID:17900300 RGD:5147988 NCBI chr 1:136,892,311...136,906,450 JBrowse link
G ICOS inducible T cell costimulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr2B:91,168,998...91,193,808
Ensembl chr2B:209,307,938...209,332,734
JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:50,946,817...51,047,168
Ensembl chr 7:51,191,685...51,291,245
JBrowse link
G IL21 interleukin 21 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
JBrowse link
G IL21R interleukin 21 receptor ISO DNA:SNPs:exons: RGD PMID:18254984 RGD:6892941 Ensembl chr16:27,774,864...27,821,769 JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:polymorphisms (human) RGD PMID:10361244 RGD:5147864 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G LOC100978213 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 chr17:7,581,163...7,589,809
Ensembl chr17:7,567,766...7,575,575
JBrowse link
G MANBA mannosidase beta ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr 4:95,055,206...95,184,727
Ensembl chr 4:105,718,124...105,846,251
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 chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link
G MS4A1 membrane spanning 4-domains A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:55,691,750...55,706,697
Ensembl chr11:59,134,617...59,149,521
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar Annotator: match by term: Common variable agammaglobulinemia
CTD
ClinVar
PMID:25741868, PMID:29477724 NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098
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 chr10:98,997,604...99,006,407
Ensembl chr10:102,463,503...102,471,907
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:T cell (human) RGD PMID:22697005 RGD:6771226 NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067
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 chr11:36,558,419...36,564,997
Ensembl chr11:36,431,703...36,433,286
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 chr17:34,321,121...34,355,020
Ensembl chr17:39,252,858...39,292,053
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 chr22:22,816,504...22,819,584 JBrowse link
G TTC7A tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr2A:47,031,859...47,190,995
Ensembl chr2A:47,963,094...48,121,083
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 chr2B:91,168,998...91,193,808
Ensembl chr2B:209,307,938...209,332,734
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 1 ClinVar PMID:24140114 NCBI chr10:98,997,604...99,006,407
Ensembl chr10:102,463,503...102,471,907
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 chr10:98,997,604...99,006,407
Ensembl chr10:102,463,503...102,471,907
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 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
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 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098
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 7:50,946,817...51,047,168
Ensembl chr 7:51,191,685...51,291,245
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 chr 1:210,143,516...210,148,878 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 chr17:34,321,121...34,355,020
Ensembl chr17:39,252,858...39,292,053
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 Ensembl chr16:29,320,734...29,327,481 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 chr22:22,363,178...22,423,041
Ensembl chr22:40,450,276...40,510,200
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 chr22:22,692,503...22,724,871
Ensembl chr22:40,778,254...40,804,191
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 chr22:22,455,605...22,471,836
Ensembl chr22:40,542,255...40,558,513
JBrowse link
G DESI1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:22,493,114...22,516,191
Ensembl chr22:40,578,968...40,602,094
JBrowse link
G LOC100990934 centromere protein M ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:22,831,313...22,839,947
Ensembl chr22:40,915,404...40,923,765
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 chr22:22,592,508...22,692,370
Ensembl chr22:40,678,001...40,777,076
JBrowse link
G NAGA alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:22,951,723...22,964,278
Ensembl chr22:41,035,622...41,046,431
JBrowse link
G PHF5A PHD finger protein 5A ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:22,353,811...22,362,899
Ensembl chr22:40,441,275...40,450,174
JBrowse link
G PMM1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:22,472,067...22,485,029
Ensembl chr22:40,558,733...40,571,811
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 chr22:22,419,887...22,438,539
Ensembl chr22:40,507,026...40,525,927
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 chr22:22,142,644...22,199,268
Ensembl chr22:40,233,357...40,272,671
JBrowse link
G SEPTIN3 septin 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:22,860,671...22,890,643 JBrowse link
G SHISA8 shisa family member 8 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:22,802,111...22,807,652 JBrowse link
G SNU13 small nuclear ribonucleoprotein 13 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:22,567,285...22,582,257
Ensembl chr22:40,653,338...40,669,706
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 chr22:22,725,790...22,799,749
Ensembl chr22:40,811,459...40,884,947
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 chr22:22,263,607...22,295,750
Ensembl chr22:40,348,770...40,382,724
JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C ISO OMIM NCBI chr22:22,816,504...22,819,584 JBrowse link
G TOB2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:22,329,783...22,344,795 JBrowse link
G WBP2NL WBP2 N-terminal like ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:22,891,166...22,926,920
Ensembl chr22:40,974,715...41,004,007
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 chr22:22,516,281...22,557,379
Ensembl chr22:40,603,038...40,643,314
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 chr22:22,198,403...22,256,455
Ensembl chr22:40,286,098...40,343,159
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 chr11:55,691,750...55,706,697
Ensembl chr11:59,134,617...59,149,521
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 chr11:2,400,503...2,421,132
Ensembl chr11:2,437,991...2,449,308
JBrowse link
Common Variable Immunodeficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CR2 complement C3d receptor 2 ISO OMIM NCBI chr 1:183,052,798...183,088,385
Ensembl chr 1:187,330,483...187,366,069
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 4:142,597,002...143,388,115
Ensembl chr 4:154,247,287...155,006,875
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 4:142,913,376...142,916,001
Ensembl chr 4:154,563,939...154,565,018
JBrowse link
cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 susceptibility ISO associated with hepatitis C;DNA:SNP: :3435C>T(human) RGD PMID:28453396 RGD:14700902 NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
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 chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
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 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
JBrowse link
G TCN2 transcobalamin 2 ISO associated with Glomerulonephritis;protein:increased expression:serum: RGD PMID:3574578 RGD:11060121 NCBI chr22:11,635,107...11,655,137
Ensembl chr22:29,435,517...29,455,494
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum RGD PMID:19860001 RGD:10450529 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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 chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
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 5:106,440,136...106,446,849
Ensembl chr 5:112,242,490...112,250,130
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 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
JBrowse link
G ATM ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754746 NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
JBrowse link
G CARD11 caspase recruitment domain family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 7:3,166,788...3,304,729
Ensembl chr 7:3,258,736...3,332,999
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 chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
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 7:68,230,804...68,251,369
Ensembl chr 7:82,221,846...82,242,874
JBrowse link
G CCR6 C-C motif chemokine receptor 6 ISO mRNA, protein:increased expression:skin RGD PMID:22048239 RGD:7483601 NCBI chr 6:165,094,563...165,109,774
Ensembl chr 6:170,069,689...170,084,779
JBrowse link
G CD28 CD28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916, PMID:26258847 NCBI chr2B:90,938,795...90,971,438
Ensembl chr2B:209,076,388...209,111,213
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:deletion (human)
CTD
RGD
PMID:20118908, PMID:26192916 RGD:8552306 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B disease_progression ISO DNA:deletion (human) RGD PMID:20118908 RGD:8552306 NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156
JBrowse link
G CTCF CCCTC-binding factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr16:47,906,503...47,983,271
Ensembl chr16:67,302,952...67,372,041
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258847 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605
JBrowse link
G FAS Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:plasma RGD PMID:16428475 RGD:8655925 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL4 interleukin 4 ISO mRNA:increased expression:skin RGD PMID:7963654 RGD:7829823 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
JBrowse link
G IRF4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654
JBrowse link
G LOC100989105 signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr17:15,040,303...15,116,682
Ensembl chr17:15,306,418...15,336,463
JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754746 NCBI chr 1:125,918,760...125,923,952
Ensembl chr 1:129,566,827...129,572,086
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr10:98,997,604...99,006,407
Ensembl chr10:102,463,503...102,471,907
JBrowse link
G PLCG1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr20:37,477,077...37,515,854
Ensembl chr20:38,572,709...38,615,145
JBrowse link
G PRKCQ protein kinase C theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr10:6,458,138...6,610,781
Ensembl chr10:6,440,316...6,593,900
JBrowse link
G RHOA ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 3:49,282,009...49,339,887 JBrowse link
G TNFAIP3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 6:135,617,465...135,634,085
Ensembl chr 6:139,705,255...139,720,819
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G ZEB1 zinc finger E-box binding homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr10:31,449,202...31,659,534
Ensembl chr10:32,046,491...32,253,550
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 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21325069 NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
JBrowse link
G ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21625222 NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157
JBrowse link
G ALK ALK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr2A:29,196,195...29,930,062
Ensembl chr2A:29,276,041...30,006,735
JBrowse link
G B2M beta-2-microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7688627 NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991
JBrowse link
G BCAS2 BCAS2 pre-mRNA processing factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 1:87,972,721...87,986,819
Ensembl chr 1:123,024,910...123,039,068
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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 chr 3:184,748,135...184,772,375
Ensembl chr 3:193,308,296...193,332,124
JBrowse link
G CARD11 caspase recruitment domain family member 11 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exons:multiple (human)
CTD
RGD
PMID:18323416, PMID:25049379, PMID:26192916 RGD:11100036 NCBI chr 7:3,166,788...3,304,729
Ensembl chr 7:3,258,736...3,332,999
JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
JBrowse link
G CCDC86 coiled-coil domain containing 86 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23828858 NCBI chr11:56,105,239...56,114,322
Ensembl chr11:59,546,050...59,555,028
JBrowse link
G CD40 CD40 molecule susceptibility ISO DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) RGD PMID:20473910 RGD:5490541 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
JBrowse link
G CD79A CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:25049379 NCBI chr19:38,765,067...38,769,556
Ensembl chr19:47,270,377...47,274,711
JBrowse link
G CD79B CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335
JBrowse link
G CDK1 cyclin dependent kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19223503 NCBI chr10:57,314,692...57,331,261
Ensembl chr10:59,647,993...59,664,434
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21325069 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G CLTC clathrin heavy chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr17:53,685,865...53,761,008
Ensembl chr17:58,529,750...58,603,636
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20081860 NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
JBrowse link
G FAS Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G FCGR2A Fc fragment of IgG receptor IIa disease_progression ISO DNA:SNP: :rs1801274 (human) RGD PMID:27282998 RGD:11344967 NCBI chr 1:136,892,311...136,906,450 JBrowse link
G GLI1 GLI family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21625222 NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473
JBrowse link
G GSTM1 glutathione S-transferase mu 1 treatment ISO RGD PMID:20303013 RGD:10450835 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility ISO DNA:SNP: :(rs1695)(human) RGD PMID:19338043 RGD:8547939 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression ISO proteion:increased expression:serum: RGD PMID:12598355 RGD:11354982 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
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 Ensembl chr16:27,774,864...27,821,769 JBrowse link
G IMMP2L inner mitochondrial membrane peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 7:102,647,212...103,536,293 JBrowse link
G IRF4 interferon regulatory factor 4 disease_progression ISO RGD PMID:15701085 RGD:11530023 NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654
JBrowse link
G KMT2D lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804550 NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
JBrowse link
G MALT1 MALT1 paracaspase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr18:52,060,878...52,141,985
Ensembl chr18:55,395,462...55,473,574
JBrowse link
G MKI67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:20919850 RGD:6483541 NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555
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 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25049379 NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572
JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr19:41,794,037...41,837,047
Ensembl chr19:50,399,668...50,443,024
JBrowse link
G NFKBIA NFKB inhibitor alpha no_association ISO