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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


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acute leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified ClinVar PMID:7585650, PMID:9195225, PMID:22234153, PMID:23221806, PMID:23232694, PMID:24728327, PMID:25716912, PMID:25741868, PMID:30311386 NCBI chrNW_004955555:2,355,005...2,369,599 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 CTD Direct Evidence: marker/mechanism
DNA:snps, haplotype:multiple (human)
CTD
RGD
PMID:22674224 RGD:8657089 NCBI chrNW_004955432:4,911,774...5,085,349 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 chrNW_004955507:5,724,788...5,791,281 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 chrNW_004955474:12,365,903...12,408,715 JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11984797, PMID:21898527 NCBI chrNW_004955513:652,048...799,182 JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684603, PMID:19684604 NCBI chrNW_004955425:15,253,951...15,433,246 JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chrNW_004955588:159,462...233,047 JBrowse link
G Bax BCL2 associated X, apoptosis regulator susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chrNW_004955559:1,695,960...1,700,246 JBrowse link
G Bcl2 BCL2 apoptosis regulator severity ISO mRNA:increased expression:bone marrow (human) RGD PMID:25982455 RGD:11076595 NCBI chrNW_004955402:46,911,125...47,084,214 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 chrNW_004955422:29,254,440...29,307,104 JBrowse link
G Bcr BCR activator of RhoGEF and GTPase susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chrNW_004955455:7,598,794...7,727,386 JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: therapeutic CTD PMID:22010212 NCBI chrNW_004955403:322,082...348,591 JBrowse link
G Cast calpastatin ISO protein:increased expresssion:B cell RGD PMID:11264179 RGD:5509822 NCBI chrNW_004955418:15,859,951...15,974,141 JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:bone marrow (human) RGD PMID:22391157 RGD:11352824 NCBI chrNW_004955422:16,449,921...16,462,676 JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:9292526 RGD:11352271 NCBI chrNW_004955489:8,465,571...8,477,714 JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:16353080 RGD:11352810 NCBI chrNW_004955406:43,002,817...43,034,555 JBrowse link
G Cd79b CD79b molecule ISO protein:decreased expression:bone marrow, mononuclear cell (human) RGD PMID:21487112 RGD:11250414 NCBI chrNW_004955478:7,909,353...7,912,814 JBrowse link
G Cd86 CD86 molecule severity ISO protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human) RGD PMID:24283754 RGD:11354967 NCBI chrNW_004955427:21,375,820...21,436,767 JBrowse link
G Cdk6 cyclin dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24736461 NCBI chrNW_004955432:9,521,794...9,727,772 JBrowse link
G Cebpe CCAAT enhancer binding protein epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684604 NCBI chrNW_004955409:37,186,282...37,187,914 JBrowse link
G Cfb complement factor B ISO DNA:missense mutation:p.R32Q b(human) RGD PMID:6958349 RGD:11041155 NCBI chrNW_004955437:461,235...466,908 JBrowse link
G Crebbp CREB binding protein disease_progression ISO DNA:mutations:multiple RGD PMID:25917266 RGD:11060149 NCBI chrNW_004955442:13,559,496...13,691,913 JBrowse link
G Crlf2 cytokine receptor like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194 NCBI chrNW_004955499:940,250...955,458 JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:9250830 RGD:11039038 NCBI chrNW_004955451:14,688,181...14,690,126 JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 severity ISO RGD PMID:8562939 RGD:734840 NCBI chrNW_004955450:2,631,310...2,663,118 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 chrNW_004955418:29,274,170...29,283,028 JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha treatment ISO DNA:mutations:exon, intron:p.R882(human) RGD PMID:25242092 RGD:11041125 NCBI chrNW_004955469:7,264,431...7,367,059 JBrowse link
G Dntt DNA nucleotidylexotransferase ISO protein:increased activity:peripheral blood,bone marrow: RGD PMID:7020399 RGD:8694149 NCBI chrNW_004955507:2,494,074...2,551,326 JBrowse link
G Dpyd dihydropyrimidine dehydrogenase no_association
disease_progression
ISO DNA:SNPs: :2194G>A, 1156G>T (human)
DNA:splice-site mutation:intron:IVS14+1G>A (human)
DNA:SNP: :85T>C (human)
RGD PMID:26846104 RGD:11098453 NCBI chrNW_004955435:2,007,185...2,800,907 JBrowse link
G Eng endoglin disease_progression ISO RGD PMID:17572488 RGD:11041565 NCBI chrNW_004955419:818,797...853,319 JBrowse link
G Ephx1 epoxide hydrolase 1 no_association
susceptibility
ISO DNA:missense mutation, haplotype:exon:p.H139R (human)
DNA:missense mutation, haplotype:exon:p.Y113H (human)
DNA:SNPs:exon:rs1051740, rs2234922 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:exon
RGD
CTD
PMID:19593802, PMID:21983886, PMID:22200898, PMID:22930568 RGD:11252110, RGD:11252111, RGD:11252113, RGD:11252114 NCBI chrNW_004955520:116,363...142,983 JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human)
DNA:SNPs: :8092C>A, 19007G>A (human)
RGD PMID:16435384, PMID:16723154 RGD:11252160, RGD:11340204 NCBI chrNW_004955555:2,393,510...2,430,180 JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit no_association ISO DNA:missense mutations: :p.D312N, p.K751Q (human)
DNA:haplotype
RGD PMID:19101034, PMID:21987080 RGD:11252192, RGD:11340201 NCBI chrNW_004955555:2,355,005...2,369,599 JBrowse link
G Erg ETS transcription factor ERG ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776115 NCBI chrNW_004955407:37,372,471...37,613,674 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 chrNW_004955413:8,698,412...8,912,011 JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:8429686 RGD:11340211 NCBI chrNW_004955423:254,060...264,448 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 chrNW_004955425:3,961,671...3,987,513 JBrowse link
G Fga fibrinogen alpha chain ISO protein:increased expression:serum (human) RGD PMID:25317080 RGD:11040558 NCBI chrNW_004955471:8,806,964...8,814,671 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 chrNW_004955497:7,357,533...7,441,215 JBrowse link
G Fpgs folylpolyglutamate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25013492 NCBI chrNW_004955419:853,891...871,729 JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:blood: RGD PMID:19360458 RGD:11040460 NCBI chrNW_004955513:2,273,267...2,281,850 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 chrNW_004955486:9,165,850...9,192,306 JBrowse link
G Gpi glucose-6-phosphate isomerase ISO RGD PMID:6589021 RGD:11051848 NCBI chrNW_004955468:3,980,999...4,007,553 JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO RGD PMID:17317918, PMID:24698347 RGD:11352774, RGD:11352812 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:24191316 RGD:11059506 NCBI chrNW_004955463:7,130,459...7,153,631 JBrowse link
G Gstp1 glutathione S-transferase pi 1 no_association
disease_progression
susceptibility
ISO DNA:polymorphism: :1578 a>G(human)
DNA:haplotype:cds:
DNA:transition mutation:exon:
RGD PMID:10666194, PMID:15738600, PMID:23979883 RGD:10450829, RGD:10755321, RGD:10755417 NCBI chrNW_004955422:17,914,228...17,916,918 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 chrNW_004955483:961,317...962,727 JBrowse link
G Hck HCK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17344919 NCBI chrNW_004955422:28,934,512...28,986,998 JBrowse link
G Hdac1 histone deacetylase 1 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chrNW_004955452:10,636,366...10,668,873 JBrowse link
G Hdac2 histone deacetylase 2 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chrNW_004955526:2,739,099...2,759,640 JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO RGD PMID:23948281 RGD:9681454 NCBI chrNW_004955542:1,629,691...1,886,160 JBrowse link
G Hfe homeostatic iron regulator no_association ISO DNA:missense mutation: :p.H63D (human)
DNA:missense mutation:cds:p.C282Y (human)
DNA:missense mutation:cds:p.H63D (human)
RGD PMID:10627122, PMID:17107905 RGD:10755557, RGD:10755558 NCBI chrNW_004955483:933,269...941,070 JBrowse link
G Hk1 hexokinase 1 ISO protein:decreased activity:platelet RGD PMID:21921332 RGD:11353881 NCBI chrNW_004955437:21,733,314...21,824,303 JBrowse link
G Hlf HLF transcription factor, PAR bZIP family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chrNW_004955451:7,309,895...7,364,166 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 chrNW_004955403:20,510,364...20,526,564 JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chrNW_004955457:6,851,542...6,869,452 JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:SNP: :rs2069727(human) RGD PMID:21067287 RGD:10755691 NCBI chrNW_004955458:14,643,333...14,648,020 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 chrNW_004955456:3,617,988...3,721,791 JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chrNW_004955457:2,608,892...2,763,036 JBrowse link
G Ikzf3 IKAROS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chrNW_004955451:14,483,669...14,571,108 JBrowse link
G Il10 interleukin 10 treatment ISO protein:decreased expression:blood RGD PMID:15860861, PMID:21653647 RGD:11049158, RGD:11049169 NCBI chrNW_004955406:42,307,789...42,312,255 JBrowse link
G Irf4 interferon regulatory factor 4 ISO DNA:SNP:intron:rs12203592 (human) RGD PMID:19897031 RGD:11526162 NCBI chrNW_004955465:12,497,534...12,512,529 JBrowse link
G Itpa inosine triphosphatase treatment
no_association
ISO DNA:SNPs:exon:94C>A, 138G>A (human)
DNA:SNP:intron
RGD PMID:22009189 RGD:10766474 NCBI chrNW_004955415:14,106,786...14,121,975 JBrowse link
G Kdm2b lysine demethylase 2B ISO mRNA:increased expression:bone marrow (human) RGD PMID:21310926 RGD:9588255 NCBI chrNW_004955482:6,774,021...6,885,113 JBrowse link
G Kdm3b lysine demethylase 3B ISO protein:increased expression:bone marrow, mononuclear cell (human) RGD PMID:22615488 RGD:9586728 NCBI chrNW_004955418:2,026,254...2,098,223 JBrowse link
G Kdm6a lysine demethylase 6A severity ISO DNA:mutations:cds:multiple (human) RGD PMID:22377896 RGD:9684944 NCBI chrNW_004955516:3,151,350...3,346,832 JBrowse link
G Kmt2a lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24736461, PMID:25730765 NCBI chrNW_004955412:19,586,435...19,670,149 JBrowse link
G Kras KRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:17910045, PMID:25917266 RGD:11060148, RGD:11060149 NCBI chrNW_004955413:20,298,852...20,328,756 JBrowse link
G LOC102004641 cytochrome b-245 light chain ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:19222940 RGD:11040545 NCBI chrNW_004955541:2,570,843...2,573,822 JBrowse link
G LOC102009223 cytochrome P450 1B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chrNW_004955441:5,803,397...5,812,131 JBrowse link
G LOC102010322 cytochrome P450 1A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chrNW_004955450:3,165,107...3,171,894 JBrowse link
G LOC102010850 cytochrome P450 1A1 susceptibility
no_association
ISO DNA:polymorphism:cds:2452C>A(p.T461N)(human)
DNA:polymorphism:3"UTR:rs4646903(human)
DNA:polymorphism:3'UTR:3801T>C(human)
RGD PMID:16676594, PMID:22964275, PMID:23725389 RGD:11352714, RGD:11352725, RGD:11352728 NCBI chrNW_004955450:3,183,958...3,189,488 JBrowse link
G LOC102026028 cytochrome P450 2E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11774269 NCBI chrNW_004955507:6,293,162...6,303,255 JBrowse link
G Mefv MEFV innate immuity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M680I(human) RGD PMID:22942567 RGD:11531121 NCBI chrNW_004955442:14,068,436...14,093,889 JBrowse link
G Mthfr methylenetetrahydrofolate reductase treatment
disease_progression
ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:677C>T (human)
DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human)
CTD
RGD
PMID:16706930, PMID:19923983, PMID:21644011 RGD:10449398, RGD:10449407 NCBI chrNW_004955486:2,096,379...2,112,240 JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase disease_progression
no_association
susceptibility
ISO DNA:SNP::rs10925235(human)
DNA:polymorphism: :66A>G(human)
DNA:polymorphism: :2756A>G(human)
RGD PMID:15159311, PMID:21618417, PMID:22453148, PMID:26605150 RGD:11531136, RGD:11531137, RGD:11531140, RGD:11531141 NCBI chrNW_004955492:3,372,915...3,474,173 JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:SNP: :rs3776455(human)
DNA:haplotype:cds:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17136115, PMID:23940529 RGD:11531133, RGD:11531135 NCBI chrNW_004955504:5,412,290...5,435,409 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:25784651 RGD:11532748 NCBI chrNW_004955461:2,714,022...2,718,872 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 chrNW_004955417:6,840,916...6,880,479 JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility
disease_progression
ISO DNA:SNP: :rs3918186(human)
DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human)
RGD PMID:20510681, PMID:23922896 RGD:11533639, RGD:11533646 NCBI chrNW_004955491:5,438,228...5,457,308 JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO DNA:mutation: :609C>T (human)
DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11774269, PMID:17332311, PMID:18444911 RGD:10769347, RGD:10769359 NCBI chrNW_004955484:7,012,373...7,028,182 JBrowse link
G Nras NRAS proto-oncogene, GTPase disease_progression ISO DNA:missense mutation:cds: RGD PMID:25204082 RGD:11535045 NCBI chrNW_004955435:18,001,517...18,009,105 JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:24076604 NCBI chrNW_004955514:1,084,522...1,162,624 JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO CTD Direct Evidence: marker/mechanism CTD PMID:23377183 NCBI chrNW_004955485:7,318,006...7,394,448 JBrowse link
G Nup214 nucleoporin 214 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chrNW_004955513:955,639...1,038,912 JBrowse link
G P2ry8 P2Y receptor family member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194 NCBI chrNW_004955499:1,062,233...1,064,588 JBrowse link
G Pag1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chrNW_004955444:487,028...636,440 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 chrNW_004955419:29,395,631...29,577,272 JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:15887099, PMID:18602922, PMID:20205264, PMID:22120844, PMID:22577899, PMID:23012243, PMID:23652311, PMID:24033266, PMID:24362816, PMID:24728189, PMID:24728327, PMID:25512458, PMID:25741868, PMID:25856668, PMID:25980754, PMID:26116798, PMID:26318770, PMID:26467025, PMID:26681312, PMID:27017610, PMID:27037742, PMID:28492532, PMID:28562508, PMID:30155321 NCBI chrNW_004955460:13,762,854...13,791,462 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 chrNW_004955432:11,893,473...11,923,035 JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator severity ISO mRNA:increased expression:blood (human) RGD PMID:27275197 RGD:11535025 NCBI chrNW_004955455:6,921,420...6,930,453 JBrowse link
G Prdm14 PR/SET domain 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043588 NCBI chrNW_004955444:9,606,310...9,626,772 JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chrNW_004955431:1,960,765...2,124,576 JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chrNW_004955407:42,132,216...42,154,252 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 chrNW_004955406:39,725,841...39,732,527 JBrowse link
G Tal1 TAL bHLH transcription factor 1, erythroid differentiation factor susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chrNW_004955464:11,304,611...11,317,420 JBrowse link
G Tal2 TAL bHLH transcription factor 2 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chrNW_004955419:20,899,292...20,907,288 JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chrNW_004955495:6,337,311...6,365,193 JBrowse link
G Tcn2 transcobalamin 2 ISO protein:altered activity:plasma: RGD PMID:8754152 RGD:11059889 NCBI chrNW_004955455:4,827,030...4,849,810 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 chrNW_004955504:649,248...669,796 JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO mRNA:increased expression:bone marrow, mononuclear cells (human) RGD PMID:12730115 RGD:2317244 NCBI chrNW_004955404:11,071,716...11,128,758 JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chrNW_004955467:9,241,391...9,256,716 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: :multiple
DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human)
DNA:SNPs:multiple
RGD PMID:17164697, PMID:22009189, PMID:24499706 RGD:10766474, RGD:11038720, RGD:11038723 NCBI chrNW_004955483:8,052,867...8,072,235 JBrowse link
G Tyms thymidylate synthetase treatment ISO DNA:repeats: : rs347430033(human) RGD PMID:25007187 RGD:11080979 NCBI chrNW_004955402:9,295,862...9,304,952 JBrowse link
G Xrcc1 X-ray repair cross complementing 1 no_association
susceptibility
ISO DNA:missense mutation: :p.R194W (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.R399Q (human)
DNA:missense mutation, haplotype: :p.R399Q (human)
RGD
CTD
PMID:19101034, PMID:21983886 RGD:11252110, RGD:11252192 NCBI chrNW_004955555:1,293,416...1,315,839 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 chrNW_004955513:652,048...799,182 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 chrNW_004955499:940,250...955,458 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 chrNW_004955463:14,013,247...14,064,354 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 chrNW_004955426:20,785,896...20,818,512 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 chrNW_004955434:9,349,033...9,355,817 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 chrNW_004955423:25,501,989...25,581,826 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 chrNW_004955434:9,227,897...9,341,208 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 chrNW_004955524:3,399,895...3,412,018 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 chrNW_004955445:12,696,096...12,717,488 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 chrNW_004955422:9,891,878...9,928,569 JBrowse link
adult T-cell leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18688853 NCBI chrNW_004955465:6,053,600...6,201,254 JBrowse link
G Card11 caspase recruitment domain family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004955460:12,368,987...12,487,675 JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004955421:205,297...210,944 JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004955451:15,086,119...15,101,862 JBrowse link
G Cd28 CD28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004955457:11,159,769...11,253,099 JBrowse link
G Cd80 CD80 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chrNW_004955427:19,237,251...19,274,001 JBrowse link
G Cd86 CD86 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chrNW_004955427:21,375,820...21,436,767 JBrowse link
G Csnk1a1 casein kinase 1 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004955415:4,921,356...4,966,705 JBrowse link
G Csnk2a1 casein kinase 2 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004955597:326,601...397,112 JBrowse link
G Csnk2b casein kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004955437:210,541...215,725 JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004955457:11,028,707...11,034,898 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 chrNW_004955425:3,961,671...3,987,513 JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:23797717, PMID:23962110 RGD:38456007 NCBI chrNW_004955543:731,707...742,606 JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004955411:36,403,156...36,597,660 JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004955421:24,448,446...24,477,885 JBrowse link
G Gpr183 G protein-coupled receptor 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004955404:11,264,954...11,277,531 JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004955410:28,032,193...28,042,459 JBrowse link
G Icos inducible T cell costimulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004955457:10,934,390...10,952,318 JBrowse link
G Ifng interferon gamma treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:8800741, PMID:23962110 RGD:10755707 NCBI chrNW_004955458:14,643,333...14,648,020 JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004955457:2,608,892...2,763,036 JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:8704212, PMID:23962110 RGD:11049460 NCBI chrNW_004955406:42,307,789...42,312,255 JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chrNW_004955428:18,163,010...18,168,157 JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chrNW_004955408:4,058,052...4,065,999 JBrowse link
G Il5 interleukin 5 disease_progression ISO protein:increased expression:serum RGD PMID:16425276 RGD:11354942 NCBI chrNW_004955408:3,937,128...3,951,784 JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum (human) RGD PMID:10374863 RGD:11060275 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Irf4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004955465:12,497,534...12,512,529 JBrowse link
G Jak3 Janus kinase 3 ISO DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) RGD PMID:21821710 RGD:11531131 NCBI chrNW_004955524:3,399,895...3,412,018 JBrowse link
G Myb MYB proto-oncogene, transcription factor disease_progression ISO mRNA:splice variants:CD4+ T cell: RGD PMID:27307595 RGD:11532670 NCBI chrNW_004955439:1,523,516...1,560,185 JBrowse link
G Notch1 notch receptor 1 ISO DNA:mutations:multiple (human) RGD PMID:16707600 RGD:1580759 NCBI chrNW_004955513:4,225,939...4,264,875 JBrowse link
G Nras NRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:21586752 RGD:11535055 NCBI chrNW_004955435:18,001,517...18,009,105 JBrowse link
G Plcg1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004955445:15,787,496...15,823,859 JBrowse link
G Prkcb protein kinase C beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004955493:2,395,494...2,710,522 JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24090995 NCBI chrNW_004955451:16,320,326...16,348,505 JBrowse link
G Tal2 TAL bHLH transcription factor 2 ISO RGD PMID:1763056 RGD:1599285 NCBI chrNW_004955419:20,899,292...20,907,288 JBrowse link
G Terf2 telomeric repeat binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643074 NCBI chrNW_004955484:7,318,813...7,344,221 JBrowse link
G Tlx1 T cell leukemia homeobox 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:1683261, PMID:1717256 RGD:1599439 NCBI chrNW_004955485:9,070,601...9,076,063 JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chrNW_004955419:12,763,343...12,790,044 JBrowse link
G Tp73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004955486:7,914,608...7,961,992 JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004955495:2,697,508...2,755,468 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 DNA:splice-site mutation
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10583958 RGD:1600518 NCBI chrNW_004955507:2,398,694...2,466,461 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 chrNW_004955503:7,483,819...7,515,085 JBrowse link
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chrNW_004955493:6,540,160...6,544,077 JBrowse link
G Cd79a CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955555:961,522...965,605 JBrowse link
G Cd79b CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955478:7,909,353...7,912,814 JBrowse link
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:14660746 RGD:1599837 NCBI chrNW_004955570:1,270,710...1,295,658 JBrowse link
G Sec61a1 SEC61 translocon alpha 1 subunit ISO ClinVar Annotator: match by term: Hypogammaglobulinemia ClinVar PMID:25741868, PMID:28782633 NCBI chrNW_004955429:15,637,461...15,652,556 JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955495:6,337,311...6,365,193 JBrowse link
Agammaglobulinemia 3, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79a CD79a molecule ISO OMIM NCBI chrNW_004955555:961,522...965,605 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 chrNW_004955507:2,398,694...2,466,461 JBrowse link
G Znf518a zinc finger protein 518A ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955507:2,350,734...2,377,855 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 chrNW_004955570:1,270,710...1,295,658 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 chrNW_004955478:7,909,353...7,912,814 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 chrNW_004955446:1,020,707...1,098,327 JBrowse link
Agammaglobulinemia 8, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf3 transcription factor 3 ISO OMIM NCBI chrNW_004955495:6,337,311...6,365,193 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 chrNW_004955503:7,483,819...7,515,085 JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Agammaglobulinemia, non-Bruton type ClinVar PMID:25741868 NCBI chrNW_004955555:961,522...965,605 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 chrNW_004955469:11,049,373...11,751,235 JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157164 NCBI chrNW_004955538:1,469,544...1,475,010 JBrowse link
G Irf4 interferon regulatory factor 4 ISO DNA:translocation RGD PMID:18987657 RGD:11526155 NCBI chrNW_004955465:12,497,534...12,512,529 JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:12145210 RGD:1549449 NCBI chrNW_004955415:31,876,508...31,878,289 JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261581 NCBI chrNW_004955422:19,602,930...19,612,263 JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chrNW_004955451:16,320,326...16,348,505 JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10908157, PMID:17261581 NCBI chrNW_004955486:1,839,642...1,910,080 JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chrNW_004955410:22,003,981...22,005,483 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 chrNW_004955425:4,023,001...4,039,980 JBrowse link
G Ankrd22 ankyrin repeat domain 22 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chrNW_004955425:4,123,004...4,149,484 JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955403:322,082...348,591 JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chrNW_004955425:3,763,302...3,764,432 JBrowse link
G Fas Fas cell surface death receptor ISO OMIM NCBI chrNW_004955425:3,961,671...3,987,513 JBrowse link
G Faslg Fas ligand ISO OMIM NCBI chrNW_004955406:13,098,479...13,107,045 JBrowse link
G Ifit2 interferon induced protein with tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chrNW_004955425:3,685,626...3,692,482 JBrowse link
G Ifit3 interferon induced protein with tetratricopeptide repeats 3 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chrNW_004955425:3,671,303...3,692,478 JBrowse link
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chrNW_004955425:3,718,291...3,755,942 JBrowse link
G Lipm lipase family member M ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chrNW_004955425:4,150,780...4,170,912 JBrowse link
G Lipn lipase family member N ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chrNW_004955425:4,187,537...4,205,066 JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:21376533 RGD:13204846 NCBI chrNW_004955445:11,295,500...11,303,322 JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chrNW_004955435:18,001,517...18,009,105 JBrowse link
G Stambpl1 STAM binding protein like 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chrNW_004955425:4,045,789...4,091,942 JBrowse link
autoimmune lymphoproliferative syndrome type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casp8 caspase 8 ISO OMIM NCBI chrNW_004955403:322,082...348,591 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 chrNW_004955430:3,125,066...3,151,857 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 chrNW_004955413:20,298,852...20,328,756 JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO OMIM NCBI chrNW_004955435:18,001,517...18,009,105 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 chrNW_004955425:3,961,671...3,987,513 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 chrNW_004955406:13,098,479...13,107,045 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 chrNW_004955457:11,159,769...11,253,099 JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO OMIM NCBI chrNW_004955457:11,028,707...11,034,898 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 chrNW_004955457:10,934,390...10,952,318 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 chrNW_004955457:11,394,572...11,462,617 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 chrNW_004955402:46,242,329...46,298,157 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 chrNW_004955474:12,365,903...12,408,715 JBrowse link
G Acoxl acyl-CoA oxidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chrNW_004955470:2,788,249...3,077,277 JBrowse link
G Apoe apolipoprotein E disease_progression ISO RGD PMID:18784741 RGD:11040549 NCBI chrNW_004955555:1,998,170...2,002,003 JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17968022 NCBI chrNW_004955412:10,422,753...10,531,406 JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO DNA:translocation:5' utr: (human) RGD PMID:11719382 RGD:11100004 NCBI chrNW_004955424:23,233,523...23,330,679 JBrowse link
G Bcl2 BCL2 apoptosis regulator severity
treatment
no_association
ISO CTD Direct Evidence: marker/mechanism
DNA:snp:promoter:g.-938C>A (human)
protein:increased expression:B cell (human)
CTD
RGD
PMID:16960146, PMID:17296974, PMID:17959858, PMID:20001236, PMID:21750559, PMID:23770605 RGD:11522735, RGD:11526104, RGD:11526105, RGD:11526110 NCBI chrNW_004955402:46,911,125...47,084,214 JBrowse link
G Bmf Bcl2 modifying factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chrNW_004955416:7,048,654...7,068,917 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 chrNW_004955494:2,567,238...2,712,708 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 chrNW_004955503:7,483,819...7,515,085 JBrowse link
G Cbl Cbl proto-oncogene severity ISO DNA:hypophosphorylation:CD5+ B cell:
mRNA,protein:increased expression:CD5+ B cell:
RGD PMID:17804547 RGD:11038803 NCBI chrNW_004955412:20,307,011...20,388,539 JBrowse link
G Ccdc50 coiled-coil domain containing 50 ISO RGD PMID:19641524 RGD:9685139 NCBI chrNW_004955420:16,884,985...16,948,038 JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chrNW_004955445:11,191,817...11,202,156 JBrowse link
G Cd40lg CD40 ligand ISO mouse-human chimeric gene in human RGD PMID:20882050 RGD:11352235 NCBI chrNW_004955489:8,465,571...8,477,714 JBrowse link
G Cd5 CD5 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chrNW_004955511:5,656,333...5,670,510 JBrowse link
G Cd79b CD79b molecule ISO protein:decreased expression:B lymphocyte, cell surface (human) RGD PMID:9269755 RGD:11250403 NCBI chrNW_004955478:7,909,353...7,912,814 JBrowse link
G Cd86 CD86 molecule severity ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25179679 RGD:11354969 NCBI chrNW_004955427:21,375,820...21,436,767 JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chrNW_004955416:13,963,300...14,038,691 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 chrNW_004955457:11,028,707...11,034,898 JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO RGD PMID:18077792 RGD:11251735 NCBI chrNW_004955594:846,997...857,255 JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO mRNA:decreased expression: B cell RGD PMID:15467427 RGD:9589146 NCBI chrNW_004955422:28,380,595...28,427,012 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 chrNW_004955555:2,355,005...2,369,599 JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chrNW_004955542:279,489...395,524 JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO RGD PMID:12901972 RGD:11049461 NCBI chrNW_004955425:3,961,671...3,987,513 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 chrNW_004955471:6,852,459...7,026,590 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 chrNW_004955476:11,508,446...11,510,333 JBrowse link
G Icam1 intercellular adhesion molecule 1 severity ISO RGD PMID:7658704 RGD:11354983 NCBI chrNW_004955495:1,561,464...1,573,282 JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:polymorphism: :847A>T(human) RGD PMID:19757192 RGD:10755703 NCBI chrNW_004955458:14,643,333...14,648,020 JBrowse link
G Il10 interleukin 10 disease_progression
no_association
ISO DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)
protein:increased expression:serum
DNA:SNPs: :multiple
RGD PMID:10638947, PMID:19573080, PMID:22945689 RGD:11041895, RGD:11049165, RGD:11049174 NCBI chrNW_004955406:42,307,789...42,312,255 JBrowse link
G Il19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chrNW_004955406:42,376,102...42,384,902 JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:19074885 RGD:11051968 NCBI chrNW_004955470:1,527,710...1,538,418 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 chrNW_004955470:1,486,936...1,491,888 JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:plasma: RGD PMID:10870116 RGD:11522755 NCBI chrNW_004955470:1,145,022...1,159,413 JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma:
CTD
RGD
PMID:10870116, PMID:18006695 RGD:11522755 NCBI chrNW_004955410:25,079,835...25,084,390 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 chrNW_004955465:12,497,534...12,512,529 JBrowse link
G Itga4 integrin subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21093051 NCBI chrNW_004955403:15,726,296...15,807,055 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 chrNW_004955413:20,298,852...20,328,756 JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chrNW_004955496:1,728,840...1,827,749 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:12835555, PMID:16329078, PMID:16372351, PMID:16835863, PMID:17211612, PMID:17384584, PMID:18042262, PMID:19213030, PMID:19255327, PMID:19773371, PMID:20859122, PMID:21438134, PMID:21495179, PMID:21850009, PMID:22256804, PMID:22499344, PMID:22683711, PMID:22726224, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29493581, PMID:168335863 NCBI chrNW_004955476:11,493,299...11,507,022 JBrowse link
G Ms4a1 membrane spanning 4-domains A1 ISO RGD PMID:19911856 RGD:2316994 NCBI chrNW_004955511:5,252,934...5,263,961 JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16706930 NCBI chrNW_004955486:2,096,379...2,112,240 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 chrNW_004955435:18,001,517...18,009,105 JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11003599 NCBI chrNW_004955482:7,048,674...7,087,525 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 chrNW_004955478:7,448,584...7,531,860 JBrowse link
G Plcg2 phospholipase C gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27542411 NCBI chrNW_004955522:4,352,890...4,480,735 JBrowse link
G Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chrNW_004955402:44,005,517...44,010,722 JBrowse link
G Polb DNA polymerase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chrNW_004955536:542,179...595,198 JBrowse link
G Ppp2r5c protein phosphatase 2 regulatory subunit B'gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chrNW_004955538:1,233,511...1,363,956 JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO protein:increased expression:mononuclear cell (human) RGD PMID:16620968 RGD:11535021 NCBI chrNW_004955455:6,921,420...6,930,453 JBrowse link
G Prkd2 protein kinase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chrNW_004955574:723,933...750,794 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16314473 NCBI chrNW_004955406:25,077,988...25,086,259 JBrowse link
G Qpct glutaminyl-peptide cyclotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chrNW_004955441:5,138,477...5,168,056 JBrowse link
G Rbl2 RB transcriptional corepressor like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chrNW_004955433:11,185,726...11,237,645 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 chrNW_004955403:3,134,960...3,163,395 JBrowse link
G Sf3b2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chrNW_004955422:19,242,041...19,266,479 JBrowse link
G Sp140 SP140 nuclear body protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chrNW_004955453:4,864,812...4,911,699 JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO RGD PMID:17344921 RGD:11038662 NCBI chrNW_004955504:649,248...669,796 JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chrNW_004955420:12,348,392...12,372,714 JBrowse link
G Thbd thrombomodulin ISO RGD PMID:21812019 RGD:5685033 NCBI chrNW_004955415:30,222,830...30,226,406 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 chrNW_004955437:117,267...119,899 JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11a ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chrNW_004955402:46,242,329...46,298,157 JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chrNW_004955518:431,401...462,063 JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chrNW_004955419:12,763,343...12,790,044 JBrowse link
G Topbp1 DNA topoisomerase II binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chrNW_004955501:4,907,687...4,974,995 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 chrNW_004955467:9,241,391...9,256,716 JBrowse link
G Vdr vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12446453 NCBI chrNW_004955500:6,745,725...6,798,052 JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chrNW_004955424:22,370,006...22,420,568 JBrowse link
G Xrcc1 X-ray repair cross complementing 1 no_association
severity
ISO DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human)
DNA:SNP: :p.R399Q (rs25487) (human)
RGD PMID:19484764 RGD:11252204 NCBI chrNW_004955555:1,293,416...1,315,839 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 chrNW_004955402:46,911,125...47,084,214 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 chrNW_004955474:12,365,903...12,408,715 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 chrNW_004955420:19,998,960...20,021,200 JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chrNW_004955437:1,584,890...1,592,486 JBrowse link
G Btk Bruton tyrosine kinase treatment ISO RGD PMID:25662332 RGD:11040764 NCBI chrNW_004955503:7,483,819...7,515,085 JBrowse link
G Cbx7 chromobox 7 ISO RGD PMID:17374722 RGD:11352707 NCBI chrNW_004955413:25,079,627...25,100,039 JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chrNW_004955445:11,191,817...11,202,156 JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO RGD PMID:8469286 RGD:10450244 NCBI chrNW_004955408:3,452,009...3,454,255 JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11042651 NCBI chrNW_004955451:14,688,181...14,690,126 JBrowse link
G Eaf2 ELL associated factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20564326 NCBI chrNW_004955427:21,171,900...21,204,138 JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit severity ISO RGD PMID:23982173 RGD:10755356 NCBI chrNW_004955491:4,215,353...4,292,229 JBrowse link
G Il21r interleukin 21 receptor ISO diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region RGD PMID:11821949 RGD:1600111 NCBI chrNW_004955493:5,613,704...5,646,692 JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24837469 NCBI chrNW_004955524:3,399,895...3,412,018 JBrowse link
G Kat5 lysine acetyltransferase 5 severity ISO RGD PMID:17728759 RGD:9588481 NCBI chrNW_004955422:19,557,498...19,565,044 JBrowse link
G Lgals1 galectin 1 ISO protein:increased expression:primary tumor (rat) RGD PMID:16733672 RGD:2316550 NCBI chrNW_004955413:24,072,086...24,075,452 JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14633661 NCBI chrNW_004955435:18,001,517...18,009,105 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14654083 NCBI chrNW_004955406:25,077,988...25,086,259 JBrowse link
G Ptpn1 protein tyrosine phosphatase non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24531327 NCBI chrNW_004955445:7,754,313...7,819,229 JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chrNW_004955419:12,763,343...12,790,044 JBrowse link
G Tnfsf9 TNF superfamily member 9 ISO RGD PMID:10202049 RGD:2317349 NCBI chrNW_004955495:3,101,965...3,107,552 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 chrNW_004955513:652,048...799,182 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 chrNW_004955418:2,567,804...2,675,062 JBrowse link
G Atf7ip activating transcription factor 7 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chrNW_004955413:11,117,369...11,261,787 JBrowse link
G Bcl2l1 BCL2 like 1 severity ISO RGD PMID:18216295 RGD:11531108 NCBI chrNW_004955422:29,254,440...29,307,104 JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chrNW_004955437:1,584,890...1,592,486 JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24154679 NCBI chrNW_004955436:12,523,602...12,526,986 JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:B cell (mouse) RGD PMID:23169640 RGD:11353783 NCBI chrNW_004955422:16,449,921...16,462,676 JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chrNW_004955484:7,782,409...7,861,082 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 chrNW_004955455:2,969,113...3,008,004 JBrowse link
G Crlf2 cytokine receptor like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chrNW_004955499:940,250...955,458 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 chrNW_004955442:4,833,453...4,861,201 JBrowse link
G Etv6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15217836, PMID:24413735, PMID:25807284 NCBI chrNW_004955413:8,698,412...8,912,011 JBrowse link
G F13a1 coagulation factor XIII A chain ISO protein:increased expression:B lymphoblast: RGD PMID:16894461 RGD:11041855 NCBI chrNW_004955465:7,444,118...7,617,366 JBrowse link
G F3 coagulation factor III, tissue factor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chrNW_004955423:254,060...264,448 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 chrNW_004955406:10,535,801...10,558,649 JBrowse link
G Flt3 fms related receptor tyrosine kinase 3 ISO mRNA,protein:increased expression:bone marrow: RGD PMID:8562934 RGD:11049466 NCBI chrNW_004955497:7,357,533...7,441,215 JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chrNW_004955421:24,448,446...24,477,885 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 chrNW_004955456:3,617,988...3,721,791 JBrowse link
G Il5 interleukin 5 ISO RGD PMID:15368290 RGD:7241068 NCBI chrNW_004955408:3,937,128...3,951,784 JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:20585039, PMID:21818355, PMID:25006123 RGD:11526159, RGD:11530020, RGD:11530030 NCBI chrNW_004955465:12,497,534...12,512,529 JBrowse link
G Irf8 interferon regulatory factor 8 ISO RGD PMID:20585039 RGD:11530030 NCBI chrNW_004955541:973,004...988,493 JBrowse link
G Mga MAX dimerization protein MGA ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chrNW_004955416:8,416,236...8,566,371 JBrowse link
G Myb MYB proto-oncogene, transcription factor disease_progression ISO mRNA:splice variants:cds: RGD PMID:21853052 RGD:11532669 NCBI chrNW_004955439:1,523,516...1,560,185 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:22120021 RGD:7207416 NCBI chrNW_004955461:2,714,022...2,718,872 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 chrNW_004955481:6,145,855...6,404,179 JBrowse link
G Pax5 paired box 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24013638, PMID:30643249 NCBI chrNW_004955419:29,395,631...29,577,272 JBrowse link
G Pbx1 PBX homeobox 1 ISO OMIM NCBI chrNW_004955462:11,777,168...12,083,068 JBrowse link
G Pdgfra platelet derived growth factor receptor alpha treatment ISO RGD PMID:22447844 RGD:11075097 NCBI chrNW_004955447:16,570,652...16,613,410 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 chrNW_004955431:1,960,765...2,124,576 JBrowse link
G Runx1 RUNX family transcription factor 1 onset ISO DNA:amplification RGD PMID:21822204 RGD:6482828 NCBI chrNW_004955407:34,108,653...34,342,657 JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19796711 NCBI chrNW_004955451:16,320,326...16,348,505 JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868, PMID:26080840, PMID:26295973, PMID:28492532 NCBI chrNW_004955495:6,678,195...6,699,408 JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246562 NCBI chrNW_004955495:6,337,311...6,365,193 JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chrNW_004955403:10,925,155...11,004,229 JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chrNW_004955419:12,763,343...12,790,044 JBrowse link
G Tp53 tumor protein p53 disease_progression ISO DNA:mutations: : RGD PMID:22699455 RGD:11075072 NCBI chrNW_004955467:9,241,391...9,256,716 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 chrNW_004955476:10,464,688...10,504,473 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 chrNW_004955418:2,567,804...2,675,062 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 chrNW_004955441:14,451,207...14,471,316 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 chrNW_004955482:8,934,734...9,031,230 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 chrNW_004955418:2,567,804...2,675,062 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 chrNW_004955510:5,812,571...5,936,312 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 chrNW_004955431:13,449,287...13,526,878 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 chrNW_004955441:14,188,315...14,247,608 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 chrNW_004955441:14,451,207...14,471,316 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 chrNW_004955493:2,149,053...2,175,482 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 chrNW_004955431:1,960,765...2,124,576 JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:10678659, PMID:12734318, PMID:12838562, PMID:18716613, PMID:25741868 NCBI chrNW_004955454:3,136,097...3,142,525 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 chrNW_004955441:6,649,895...6,724,271 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 chrNW_004955469:11,049,373...11,751,235 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 chrNW_004955418:2,567,804...2,675,062 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 chrNW_004955451:16,819,463...16,870,780 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 chrNW_004955431:13,449,287...13,526,878 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 chrNW_004955412:20,307,011...20,388,539 JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:25741868 NCBI chrNW_004955495:4,695,239...4,718,380 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 chrNW_004955441:14,188,315...14,247,608 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 chrNW_004955546:1,221,995...1,252,147 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 chrNW_004955418:2,567,804...2,675,062 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 chrNW_004955468:3,046,544...3,049,217 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 chrNW_004955546:1,221,995...1,252,147 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 chrNW_004955504:36,939...66,507 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 chrNW_004955422:22,362,330...22,418,062 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 chrNW_004955441:6,649,895...6,724,271 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 chrNW_004955442:15,178,356...15,216,978 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 chrNW_004955433:8,746,213...8,780,119 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 chrNW_004955413:28,018,363...28,038,359 JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chrNW_004955452:6,068,631...6,120,759 JBrowse link
G Bbc3 BCL2 binding component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18573879 NCBI chrNW_004955574:1,167,790...1,174,966 JBrowse link
G Cct6b chaperonin containing TCP1 subunit 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chrNW_004955481:9,624,132...9,694,041 JBrowse link
G Cd40 CD40 molecule treatment ISO human cell line in a mouse model RGD PMID:9192773 RGD:11520790 NCBI chrNW_004955445:11,191,817...11,202,156 JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chrNW_004955407:42,608,249...42,617,167 JBrowse link
G Gna13 G protein subunit alpha 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chrNW_004955478:4,510,932...4,552,646 JBrowse link
G Id3 inhibitor of DNA binding 3, HLH protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143595, PMID:23143597 NCBI chrNW_004955452:3,537,352...3,538,921 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO OMIM NCBI chrNW_004955461:2,714,022...2,718,872 JBrowse link
G Pbx1 PBX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982, PMID:17244677 NCBI chrNW_004955462:11,777,168...12,083,068 JBrowse link
G Pc pyruvate carboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chrNW_004955422:18,421,100...18,536,591 JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chrNW_004955446:1,020,707...1,098,327 JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Burkitt lymphoma ClinVar PMID:15887099, PMID:18602922, PMID:20205264, PMID:22120844, PMID:22577899, PMID:23012243, PMID:23652311, PMID:24033266, PMID:24362816, PMID:24728189, PMID:24728327, PMID:25512458, PMID:25741868, PMID:25856668, PMID:25980754, PMID:26116798, PMID:26318770, PMID:26467025, PMID:26681312, PMID:27017610, PMID:27037742, PMID:28492532, PMID:28562508, PMID:30155321 NCBI chrNW_004955460:13,762,854...13,791,462 JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chrNW_004955546:1,221,995...1,252,147 JBrowse link
G Sall3 spalt like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chrNW_004955402:62,157,988...62,163,977 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 chrNW_004955495:2,021,671...2,105,155 JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982, PMID:17244677 NCBI chrNW_004955495:6,337,311...6,365,193 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 chrNW_004955410:25,079,835...25,084,390 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 chrNW_004955406:42,307,789...42,312,255 JBrowse link
childhood acute lymphocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Acute lymphoblastic leukemia, childhood ClinVar PMID:15887099, PMID:18602922, PMID:20205264, PMID:22120844, PMID:22577899, PMID:23012243, PMID:23652311, PMID:24033266, PMID:24362816, PMID:24728189, PMID:24728327, PMID:25512458, PMID:25741868, PMID:25856668, PMID:25980754, PMID:26116798, PMID:26318770, PMID:26467025, PMID:26681312, PMID:27017610, PMID:27037742, PMID:28492532, PMID:28562508, PMID:30155321 NCBI chrNW_004955460:13,762,854...13,791,462 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 chrNW_004955434:8,998,357...9,010,468 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 chrNW_004955494:2,567,238...2,712,708 JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:24869598, PMID:28492532 NCBI chrNW_004955503:7,483,819...7,515,085 JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:9450802 RGD:11522717 NCBI chrNW_004955489:8,465,571...8,477,714 JBrowse link
G Cd86 CD86 molecule ISO DNA:hypermethylation (human) RGD PMID:23154584 RGD:11354975 NCBI chrNW_004955427:21,375,820...21,436,767 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 chrNW_004955471:6,852,459...7,026,590 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 chrNW_004955476:11,508,446...11,510,333 JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:21911837 RGD:11354912 NCBI chrNW_004955408:3,937,128...3,951,784 JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression ISO DNA:missense mutation:exon:p.L116R (human)
DNA:SNPs:3' utr:multiple
DNA:SNP: :rs872071 (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 chrNW_004955465:12,497,534...12,512,529 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 chrNW_004955413:20,298,852...20,328,756 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 chrNW_004955476:11,493,299...11,507,022 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:20956327 RGD:11340590 NCBI chrNW_004955461:2,714,022...2,718,872 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 chrNW_004955427:25,553,589...25,557,654 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 chrNW_004955435:18,001,517...18,009,105 JBrowse link
G Plcg2 phospholipase C gamma 2 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:24869598 NCBI chrNW_004955522:4,352,890...4,480,735 JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26254371 RGD:11073982 NCBI chrNW_004955432:11,893,473...11,923,035 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 chrNW_004955482:8,934,734...9,031,230 JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 susceptibility ISO DNA:snp:cds:p.R620W (rs2476601) (human)
protein:increased expression:B cell (human)
RGD PMID:22569400, PMID:23287625 RGD:11533998, RGD:11535006 NCBI chrNW_004955435:17,082,762...17,139,067 JBrowse link
G Sf3b1 splicing factor 3b subunit 1 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:23634996, PMID:26619011 NCBI chrNW_004955403:3,134,960...3,163,395 JBrowse link
G Sf3b2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chrNW_004955422:19,242,041...19,266,479 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 chrNW_004955451:16,320,326...16,348,505 JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:1359493, PMID:1565143, PMID:1565144, PMID:1631137, PMID:1679237, PMID:1683921, PMID:1978757, PMID:2046748, PMID:2531845, PMID:2554494, PMID:2826609, PMID:7651740, PMID:7732013, PMID:7791795, PMID:7887414, PMID:8023157, PMID:8062826, PMID:8099841, PMID:8164043, PMID:8242631, PMID:8423216, PMID:8425176, PMID:8479749, PMID:8527048, PMID:8718514, PMID:8825920, PMID:9242456, PMID:9290701, PMID:9364015, PMID:9407971, PMID:9546439, PMID:9569050, PMID:9598730, PMID:9627118, PMID:9632751, PMID:9825943, PMID:9839505, PMID:10064694, PMID:10411893, PMID:10519380, PMID:10761705, PMID:10797439, PMID:10864200, PMID:11051239, PMID:11139324, PMID:11180592, PMID:11370630, PMID:11429705, PMID:11479205, PMID:11593407, PMID:11782540, PMID:11793474, PMID:11896595, PMID:11920959, PMID:12007217, PMID:12406399, PMID:12672316, PMID:12700230, PMID:12726864, PMID:12826609, PMID:12917626, PMID:14559903, PMID:14584079, PMID:14673037, PMID:15004724, PMID:15017592, PMID:15381368, PMID:15390294, PMID:15607980, PMID:15607981, PMID:15722483, PMID:15825182, PMID:15925506, PMID:15951970, PMID:16337994, PMID:16401470, PMID:16489069, PMID:16682957, PMID:16818505, PMID:16827139, PMID:16861262, PMID:17390010, PMID:17417627, PMID:17427234, PMID:17540308, PMID:17572079, PMID:17606709, PMID:17636407, PMID:17724467, PMID:18511570, PMID:18685109, PMID:19147582, PMID:19378321, PMID:19405127, PMID:19556618, PMID:19681600, PMID:19850740, PMID:19930417, PMID:20013323, PMID:20113312, PMID:20128691, PMID:20308654, PMID:20407015, PMID:20505364, PMID:20516128, PMID:20522432, PMID:20693561, PMID:20805372, PMID:20878954, PMID:21056685, PMID:21059199, PMID:21115975, PMID:21159183, PMID:21187651, PMID:21305319, PMID:21343334, PMID:21483000, PMID:21484931, PMID:21514416, PMID:21519010, PMID:21535297, PMID:21552135, PMID:21601526, PMID:21761402, PMID:22006311, PMID:22109999, PMID:22110706, PMID:22114072, PMID:22186996, PMID:22198284, PMID:22233476, PMID:22265402, PMID:22713868, PMID:22811390, PMID:22844452, PMID:22866089, PMID:22899716, PMID:22915647, PMID:22919068, PMID:23161690, PMID:23172776, PMID:23246812, PMID:23263379, PMID:23265383, PMID:23538418, PMID:23667202, PMID:23713777, PMID:23792586, PMID:23894400, PMID:23950206, PMID:24033266, PMID:24038938, PMID:24381225, PMID:24487413, PMID:24501221, PMID:24573247, PMID:24590827, PMID:24603336, PMID:24641375, PMID:24651012, PMID:24651015, PMID:24677579, PMID:24766216, PMID:24810334, PMID:25157968, PMID:25293557, PMID:25294809, PMID:25339994, PMID:25504633, PMID:25525159, PMID:25584008, PMID:25584637, PMID:25634208, PMID:25691460, PMID:25741868, PMID:25787918, PMID:25896519, PMID:25925845, PMID:25927356, PMID:25945745, PMID:25952993, PMID:26014290, PMID:26024390, PMID:26230955, PMID:26425688, PMID:26467025, PMID:26534844, PMID:26585234, PMID:26619011, PMID:26681312, PMID:26781615, PMID:26787237, PMID:26822237, PMID:26845104, PMID:27179933, PMID:27276561, PMID:27276934, PMID:27374712, PMID:27463065, PMID:27493922, PMID:27501770, PMID:27523101, PMID:27680515, PMID:27683180, PMID:27714481, PMID:27724982, PMID:27895058, PMID:27959731, PMID:28152038, PMID:28369373, PMID:28453743, PMID:28472496, PMID:28476805, PMID:28492532, PMID:28724667, PMID:28861920, PMID:29025599, PMID:29324801, PMID:29416011, PMID:29470806, PMID:29478780, PMID:29489754, PMID:29752822, PMID:29979965, PMID:30076369, PMID:30224644, PMID:30327374, PMID:30720243, PMID:30840781 NCBI chrNW_004955467:9,241,391...9,256,716 JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chrNW_004955424:22,370,006...22,420,568 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 chrNW_004955456:14,554,583...14,558,967 JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chrNW_004955426:22,386,613...22,412,324 JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO RGD PMID:9853108 RGD:6218983 NCBI chrNW_004955431:20,859,152...21,070,886 JBrowse link
G Il5 interleukin 5 severity ISO RGD PMID:22772323 RGD:6892720 NCBI chrNW_004955408:3,937,128...3,951,784 JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:22772323 RGD:6892720 NCBI chrNW_004955451:16,320,326...16,348,505 JBrowse link
G Vtn vitronectin ISO RGD PMID:12126637 RGD:1580817 NCBI chrNW_004955481:4,765,078...4,768,027 JBrowse link
common variable immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chrNW_004955493:6,540,160...6,544,077 JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chrNW_004955489:8,465,571...8,477,714 JBrowse link
G Cd81 CD81 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955422:14,155,682...14,175,181 JBrowse link
G Cr2 complement C3d receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955406:42,877,041...42,910,970 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 chrNW_004955429:19,461,446...19,501,908 JBrowse link
G Icos inducible T cell costimulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955457:10,934,390...10,952,318 JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955456:3,617,988...3,721,791 JBrowse link
G Il21 interleukin 21 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955428:18,057,096...18,065,492 JBrowse link
G Il21r interleukin 21 receptor ISO DNA:SNPs:exons: RGD PMID:18254984 RGD:6892941 NCBI chrNW_004955493:5,613,704...5,646,692 JBrowse link
G Manba mannosidase beta ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chrNW_004955496:5,744,374...5,837,974 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 chrNW_004955425:7,704,371...7,708,951 JBrowse link
G Ms4a1 membrane spanning 4-domains A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955511:5,252,934...5,263,961 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 chrNW_004955496:5,842,734...5,950,995 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 chrNW_004955485:7,994,730...8,001,776 JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:T cell (human) RGD PMID:22697005 RGD:6771226 NCBI chrNW_004955478:7,448,584...7,531,860 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 chrNW_004955422:9,867,307...9,869,732 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 Immune Deficiency, Dominant
ClinVar Annotator: match by term: Common variable immunodeficiency 2
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 chrNW_004955577:930,612...971,698 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 chrNW_004955413:27,341,977...27,344,009 JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chrNW_004955441:13,804,791...13,915,969 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 chrNW_004955457:10,934,390...10,952,318 JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 1 ClinVar PMID:24140114 NCBI chrNW_004955485:7,994,730...8,001,776 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 chrNW_004955485:7,994,730...8,001,776 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 chrNW_004955428:18,057,096...18,065,492 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 chrNW_004955496:5,842,734...5,950,995 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 chrNW_004955456:3,617,988...3,721,791 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 chrNW_004955492:4,889,878...4,895,508 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 chrNW_004955577:930,612...971,698 JBrowse link
Common Variable Immunodeficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd19 CD19 molecule ISO OMIM NCBI chrNW_004955493:6,540,160...6,544,077 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 chrNW_004955413:27,027,341...27,065,227 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 chrNW_004955413:27,248,879...27,265,635 JBrowse link
G Cenpm centromere protein M ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chrNW_004955413:27,349,283...27,360,052 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 chrNW_004955413:27,079,280...27,090,082 JBrowse link
G Desi1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chrNW_004955413:27,115,130...27,135,625 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 chrNW_004955413:27,188,013...27,247,608 JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chrNW_004955413:27,463,931...27,472,273 JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chrNW_004955413:27,018,730...27,026,937 JBrowse link
G Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chrNW_004955413:27,090,291...27,097,088 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 chrNW_004955413:27,065,785...27,072,432 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 chrNW_004955413:26,869,487...26,894,192 JBrowse link
G Septin3 septin 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chrNW_004955413:27,381,103...27,400,899 JBrowse link
G Shisa8 shisa family member 8 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chrNW_004955413:27,328,632...27,330,304 JBrowse link
G Snu13 small nuclear ribonucleoprotein 13 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chrNW_004955413:27,160,985...27,172,648 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 chrNW_004955413:27,271,717...27,326,655 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 chrNW_004955413:26,956,285...26,978,734 JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO OMIM NCBI chrNW_004955413:27,341,977...27,344,009 JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chrNW_004955413:26,999,955...27,010,091 JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chrNW_004955413:27,402,614...27,442,106 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 chrNW_004955413:27,135,785...27,158,344 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 chrNW_004955413:26,907,883...26,951,352 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 chrNW_004955511:5,252,934...5,263,961 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 chrNW_004955422:14,155,682...14,175,181 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 chrNW_004955406:42,877,041...42,910,970 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 chrNW_004955471:5,052,535...5,649,696 JBrowse link
G Mab21l2 mab-21 like 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity ClinVar PMID:28492532 NCBI chrNW_004955471:5,296,292...5,298,432 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 chrNW_004955432:4,911,774...5,085,349 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 chrNW_004955427:21,375,820...21,436,767 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 chrNW_004955433:748,392...750,890 JBrowse link
G Tcn2 transcobalamin 2 ISO associated with Glomerulonephritis;protein:increased expression:serum: RGD PMID:3574578 RGD:11060121 NCBI chrNW_004955455:4,827,030...4,849,810 JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:19860001 RGD:10450529 NCBI chrNW_004955437:117,267...119,899 JBrowse link
cryoglobulinemic vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tslp thymic stromal lymphopoietin ISO associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human) RGD PMID:25889007 RGD:38596329 NCBI chrNW_004955418:4,041,529...4,045,534 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 chrNW_004955452:6,068,631...6,120,759 JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004955412:10,422,753...10,531,406 JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754746 NCBI chrNW_004955559:1,695,960...1,700,246 JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
G Card11 caspase recruitment domain family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004955460:12,368,987...12,487,675 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 chrNW_004955453:6,846,625...6,850,007 JBrowse link
G Ccl26 C-C motif chemokine ligand 26 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:20505746 RGD:11087556 NCBI chrNW_004955456:14,554,583...14,558,967 JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO mRNA, protein:increased expression:skin RGD PMID:22048239 RGD:7483601 NCBI chrNW_004955439:14,921,524...14,949,493 JBrowse link
G Cd28 CD28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916, PMID:26258847 NCBI chrNW_004955457:11,159,769...11,253,099 JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B disease_progression ISO DNA:deletion (human) RGD PMID:20118908 RGD:8552306 NCBI chrNW_004955472:12,275,613...12,280,141 JBrowse link
G Ctcf CCCTC-binding factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004955484:9,041,226...9,092,924 JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258847 NCBI chrNW_004955457:11,028,707...11,034,898 JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004955469:7,264,431...7,367,059 JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004955425:3,961,671...3,987,513 JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma RGD PMID:16428475 RGD:8655925 NCBI chrNW_004955412:13,807,361...13,826,007 JBrowse link
G Il4 interleukin 4 ISO mRNA:increased expression:skin RGD PMID:7963654 RGD:7829823 NCBI chrNW_004955408:4,058,052...4,065,999 JBrowse link
G Irf4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004955465:12,497,534...12,512,529 JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754746 NCBI chrNW_004955413:238,043...243,317 JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004955485:7,994,730...8,001,776 JBrowse link
G Plcg1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004955445:15,787,496...15,823,859 JBrowse link
G Prkcq protein kinase C theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004955421:23,072,607...23,151,591 JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004955532:1,300,821...1,347,453 JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004955451:16,253,645...16,295,337 JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004955436:21,566,591...21,581,551 JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004955467:9,241,391...9,256,716 JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004955429:23,011,627...23,198,188 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 chrNW_004955432:4,911,774...5,085,349 JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21625222 NCBI chrNW_004955474:12,365,903...12,408,715 JBrowse link
G Alk ALK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chrNW_004955469:11,049,373...11,751,235 JBrowse link
G B2m beta-2-microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7688627 NCBI chrNW_004955416:11,205,503...11,211,325 JBrowse link
G Bcas2 BCAS2 pre-mRNA processing factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chrNW_004955435:17,830,532...17,857,360 JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chrNW_004955402:46,911,125...47,084,214 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 chrNW_004955420:19,998,960...20,021,200 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 chrNW_004955460:12,368,987...12,487,675 JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chrNW_004955422:11,783,973...11,826,970 JBrowse link
G Ccdc86 coiled-coil domain containing 86 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23828858 NCBI chrNW_004955511:5,533,895...5,535,984 JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) RGD PMID:20473910 RGD:5490541 NCBI chrNW_004955445:11,191,817...11,202,156 JBrowse link
G Cd79a CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:25049379 NCBI chrNW_004955555:961,522...965,605 JBrowse link
G Cd79b CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chrNW_004955478:7,909,353...7,912,814 JBrowse link
G Cdk1 cyclin dependent kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19223503 NCBI chrNW_004955425:14,210,681...14,226,474 JBrowse link
G Cltc clathrin heavy chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chrNW_004955451:3,380,304...3,445,973 JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20081860 NCBI chrNW_004955491:4,215,353...4,292,229 JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004955425:3,961,671...3,987,513 JBrowse link
G Gli1 GLI family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21625222 NCBI chrNW_004955458:5,181,761...5,193,500 JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:SNP: :(rs1695)(human) RGD PMID:19338043 RGD:8547939 NCBI chrNW_004955422:17,914,228...17,916,918 JBrowse link
G Icam1 intercellular adhesion molecule 1 disease_progression ISO proteion:increased expression:serum: RGD PMID:12598355 RGD:11354982 NCBI chrNW_004955495:1,561,464...1,573,282 JBrowse link
G Il21r interleukin 21 receptor ISO diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region RGD PMID:11821949 RGD:1600111 NCBI chrNW_004955493:5,613,704...5,646,692 JBrowse link
G Immp2l inner mitochondrial membrane peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chrNW_004955410:14,567,787...15,420,025 JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression ISO RGD PMID:15701085 RGD:11530023 NCBI chrNW_004955465:12,497,534...12,512,529 JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804550 NCBI chrNW_004955500:7,850,782...7,891,703 JBrowse link
G Malt1 MALT1 paracaspase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chrNW_004955402:42,919,480...42,968,873 JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:20919850 RGD:6483541 NCBI chrNW_004955477:5,847,288...5,875,970 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 chrNW_004955486:2,096,379...2,112,240 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chrNW_004955461:2,714,022...2,718,872 JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25049379 NCBI chrNW_004955427:25,553,589...25,557,654 JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chrNW_004955555:1,959,702...1,985,679 JBrowse link
G Nfkbia NFKB inhibitor alpha no_association ISO SNA:polymorphism(s) RGD PMID:15198731 RGD:2298905 NCBI chrNW_004955409:25,691,673...25,695,151 JBrowse link
G Nom1 nucleolar protein with MIF4G domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chrNW_004955579:27,206...42,137 JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chrNW_004955442:14,685,089...14,772,870 JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chrNW_004955420:8,355,415...8,427,024 JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chrNW_004955501:251,829...381,255 JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chrNW_004955486:3,813,923...3,837,563 JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chrNW_004955410:11,402,476...11,433,335 JBrowse link
G Prdx3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chrNW_004955431:23,640,775...23,651,738 JBrowse link
G Prdx4 peroxiredoxin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chrNW_004955509:4,111,501...4,132,529 JBrowse link
G Rangap1 Ran GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27150054 NCBI chrNW_004955413:26,869,487...26,894,192 JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19223503 NCBI chrNW_004955451:3,181,085...3,225,610 JBrowse link
G Sec31a SEC31 homolog A, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chrNW_004955433:6,830,732...6,891,259 JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18850583 NCBI chrNW_004955426:20,972,663...20,999,769 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chrNW_004955439:21,209,101...21,223,538 JBrowse link
G Sod3 superoxide dismutase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chrNW_004955480:257,716...263,149 JBrowse link
G Txnip thioredoxin interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chrNW_004955568:103,801...107,791 JBrowse link
Early-Onset Sarcoidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nod2 nucleotide binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SARCOIDOSIS, EARLY-ONSET
CTD
ClinVar
PMID:11385576, PMID:11385577, PMID:11425413, PMID:11875755, PMID:11910337, PMID:12019468, PMID:12512038, PMID:12557156, PMID:12577202, PMID:14765395, PMID:15024686, PMID:15190267, PMID:15198989, PMID:15459013, PMID:15571588, PMID:15770725, PMID:15967635, PMID:18240302, PMID:18489434, PMID:18541930, PMID:19467619, PMID:19713276, PMID:20959815, PMID:21274544, PMID:21335489, PMID:21548950, PMID:21830272, PMID:21914217, PMID:22684479, PMID:23102769, PMID:24033266, PMID:25741868, PMID:26070941, PMID:26500656, PMID:28492532 NCBI chrNW_004955433:8,746,213...8,780,119 JBrowse link
Enteropathy-Associated T-Cell Lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29200404 NCBI chrNW_004955451:16,253,645...16,295,337 JBrowse link
Familial Burkitt's Lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Familial Burkitt's 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 chrNW_004955460:13,762,854...13,791,462 JBrowse link
follicular lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691987 NCBI chrNW_004955580:927,546...934,633 JBrowse link
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691987 NCBI chrNW_004955403:43,860,811...43,886,398 JBrowse link
G Bcl10 BCL10 immune signaling adaptor ISO ClinVar Annotator: match by term: Follicular lymphoma ClinVar PMID:9989495 NCBI chrNW_004955423:8,710,231...8,720,530 JBrowse link
G Bcl2 BCL2 apoptosis regulator susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:translocation: ;t(14;18)(q32;q21)
RGD
CTD
PMID:3287162, PMID:12855623, PMID:16671111 RGD:1599473, RGD:734639 NCBI chrNW_004955402:46,911,125...47,084,214 JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) RGD PMID:20473910 RGD:5490541 NCBI chrNW_004955445:11,191,817...11,202,156 JBrowse link
G Cd40lg CD40 ligand ISO human gene in a mouse model RGD PMID:25582824 RGD:11344981 NCBI chrNW_004955489:8,465,571...8,477,714 JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chrNW_004955442:13,559,496...13,691,913 JBrowse link
G Ebf1 EBF transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chrNW_004955408:12,735,893...13,121,700 JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chrNW_004955491:4,215,353...4,292,229 JBrowse link
G Irf4 interferon regulatory factor 4 severity ISO RGD PMID:17296585 RGD:11530032 NCBI chrNW_004955465:12,497,534...12,512,529 JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:8417785, PMID:25526675 RGD:1598985 NCBI chrNW_004955402:47,092,779...47,130,131 JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chrNW_004955500:7,850,782...7,891,703 JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16410450 NCBI chrNW_004955486:2,096,379...2,112,240 JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16410450 NCBI chrNW_004955492:3,372,915...3,474,173 JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chrNW_004955427:25,553,589...25,557,654 JBrowse link
G Rragc Ras related GTP binding C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691987 NCBI chrNW_004955452:16,469,426...16,486,336 JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chrNW_004955436:21,566,591...21,581,551 JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16410450 NCBI chrNW_004955402:9,295,862...9,304,952 JBrowse link
Granuloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4 interleukin 4 treatment ISO RGD PMID:24372369 RGD:10402806 NCBI chrNW_004955408:4,058,052...4,065,999 JBrowse link
G Mif macrophage migration inhibitory factor ISO associated with Kidney Diseases RGD PMID:11126199 RGD:1642009 NCBI chrNW_004955455:8,367,566...8,368,460 JBrowse link
G Nod2 nucleotide binding oligomerization domain containing 2 ISO RGD PMID:20679225 RGD:5508736 NCBI chrNW_004955433:8,746,213...8,780,119 JBrowse link
Granuloma, Foreign-Body term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr9 toll like receptor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19797157 NCBI chrNW_004955532:3,828,645...3,832,699 JBrowse link
Granuloma, Plasma Cell 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:20979472, PMID:21030459, PMID:22920921 NCBI chrNW_004955469:11,049,373...11,751,235 JBrowse link
G Ranbp2 RAN binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21030459 NCBI chrNW_004955470:12,180,426...12,247,737 JBrowse link
hairy cell leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:8843970 RGD:11353776 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO RGD PMID:9613675 RGD:11522762 NCBI chrNW_004955470:1,145,022...1,159,413 JBrowse link
G Map2k1 mitogen-activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24241536 NCBI chrNW_004955450:9,181,851...9,205,277 JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chrNW_004955419:12,763,343...12,790,044 JBrowse link
Hodgkin's lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Hodgkin lymphoma ClinVar PMID:17924331, PMID:18424508, PMID:19370767, PMID:20104584, PMID:21523855, PMID:21990134, PMID:22505045, PMID:25741868, PMID:27495310, PMID:28492532, PMID:30311386 NCBI chrNW_004955451:16,819,463...16,870,780 JBrowse link
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:7621881 NCBI chrNW_004955445:11,191,817...11,202,156 JBrowse link
G Cd40lg CD40 ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:7621881, PMID:8656679 NCBI chrNW_004955489:8,465,571...8,477,714 JBrowse link
G Cflar CASP8 and FADD like apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17659339 NCBI chrNW_004955403:415,092...442,214 JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17562247 NCBI chrNW_004955451:14,688,181.