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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


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acute leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified ClinVar PMID:7585650, PMID:9195225, PMID:22234153, PMID:23221806, PMID:23232694, PMID:24728327, PMID:25716912, PMID:25741868, PMID:30311386 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
acute lymphoblastic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO DNA:snps, haplotype:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:22674224, PMID:22674224 RGD:8657089 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 treatment ISO DNA:SNP:5'UTR:rs717620(human)
DNA:SNPs: :rs717620(human)
RGD PMID:24404132, PMID:25007187 RGD:11080959, RGD:11080979 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 disease_progression ISO mRNA:increased expression:mononuclear cell: RGD PMID:15521915, PMID:12100141 RGD:11081076, RGD:11081143 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11984797, PMID:21898527 NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
JBrowse link
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase susceptibility ISO RGD PMID:17065136 RGD:11100012 NCBI chr 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
JBrowse link
G Aicda activation-induced cytidine deaminase treatment ISO RGD PMID:19759560 RGD:11039451 NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684603, PMID:19684604 NCBI chr20:21,713,900...21,881,193
Ensembl chr20:21,564,975...21,880,715
JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 2:196,594,178...196,651,486
Ensembl chr 2:196,594,303...196,651,179
JBrowse link
G Bax BCL2 associated X, apoptosis regulator susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator severity ISO mRNA:increased expression:bone marrow (human) RGD PMID:25982455 RGD:11076595 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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 chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Bcr BCR activator of RhoGEF and GTPase susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr20:14,421,250...14,546,406
Ensembl chr20:14,421,141...14,545,772
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: therapeutic CTD PMID:22010212 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Cast calpastatin ISO protein:increased expresssion:B cell RGD PMID:11264179 RGD:5509822 NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:bone marrow (human) RGD PMID:22391157 RGD:11352824 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:9292526 RGD:11352271 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:16353080 RGD:11352810 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cd79b CD79b molecule ISO protein:decreased expression:bone marrow, mononuclear cell (human) RGD PMID:21487112 RGD:11250414 NCBI chr10:94,497,445...94,500,591
Ensembl chr10:94,497,448...94,500,591
JBrowse link
G Cd86 CD86 molecule severity ISO protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human) RGD PMID:24283754 RGD:11354967 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24736461 NCBI chr 4:27,781,728...27,969,653
Ensembl chr 4:27,785,647...27,966,398
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A disease_progression
susceptibility
no_association
ISO DNA:deletion: :
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:
CTD PMID:20453839, PMID:10090949, PMID:26104880, PMID:25675863, PMID:9204978 RGD:11251764, RGD:11057958, RGD:11252082, RGD:11252081 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 disease_progression ISO RGD PMID:25675863 RGD:11252082
G Cebpe CCAAT/enhancer binding protein epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684604 NCBI chr15:33,356,119...33,357,517
Ensembl chr15:33,355,947...33,358,138
JBrowse link
G Cfb complement factor B ISO DNA:missense mutation:p.R32Q b(human) RGD PMID:6958349 RGD:11041155 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Crebbp CREB binding protein disease_progression ISO DNA:mutations:multiple RGD PMID:25917266 RGD:11060149 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Crlf2 cytokine receptor-like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194 NCBI chr14:1,456,843...1,461,543
Ensembl chr14:1,456,844...1,461,543
JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:9250830 RGD:11039038 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 severity ISO RGD PMID:8562939 RGD:734840 NCBI chr 8:61,532,465...61,567,510
Ensembl chr 8:61,532,465...61,567,510
JBrowse link
G Cyba cytochrome b-245 alpha chain ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:19222940 RGD:11040545 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 susceptibility
no_association
ISO DNA:polymorphism:3"UTR:rs4646903(human)
DNA:polymorphism:3'UTR:3801T>C(human)
DNA:polymorphism:cds:2452C>A(p.T461N)(human)
RGD PMID:22964275, PMID:16676594, PMID:23725389 RGD:11352714, RGD:11352728, RGD:11352725 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 8:62,451,360...62,458,244
Ensembl chr 8:62,451,329...62,458,301
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
G Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 1:147,236,480...147,307,988 JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 susceptibility ISO DNA:polymorphisms: :
DNA:SNP,deletion:splice junction,exon:1934G>A (human)
RGD PMID:11037802, PMID:19593802 RGD:11352820, RGD:11252111 NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11774269 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 disease_progression
susceptibility
ISO DNA:polymorphism: : RGD PMID:19650988, PMID:22215203 RGD:11353796, RGD:11353805 NCBI chr12:19,074,288...19,114,491
Ensembl chr12:19,074,583...19,114,399
JBrowse link
G Dhfr dihydrofolate reductase disease_progression ISO DNA:polymorphisms, haplotype:promoter:
DNA:polymorphisms: :-317A>G, 829C>T (human)
RGD PMID:19861437, PMID:12972803, PMID:22969948, PMID:9226157 RGD:11039542, RGD:11039545, RGD:11039544, RGD:11039543 NCBI chr 2:21,931,887...21,958,927
Ensembl chr 2:21,931,493...21,962,453
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha treatment ISO DNA:mutations:exon, intron:p.R882(human) RGD PMID:25242092 RGD:11041125 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Dntt DNA nucleotidylexotransferase ISO protein:increased activity:peripheral blood,bone marrow: RGD PMID:7020399 RGD:8694149 NCBI chr 1:260,289,626...260,321,174
Ensembl chr 1:260,289,589...260,321,320
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase no_association
disease_progression
ISO DNA:SNP: :85T>C (human)
DNA:SNPs: :2194G>A, 1156G>T (human)
DNA:splice-site mutation:intron:IVS14+1G>A (human)
RGD PMID:26846104, PMID:26846104, PMID:26846104 RGD:11098453, RGD:11098453, RGD:11098453 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Dux4 double homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776115 NCBI chr16:3,754,968...3,766,532
Ensembl chr16:3,754,968...3,765,917
JBrowse link
G Eng endoglin disease_progression ISO RGD PMID:17572488 RGD:11041565 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Ephx1 epoxide hydrolase 1 susceptibility
no_association
ISO DNA:missense mutation, haplotype:exon:p.Y113H (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:exon:rs1051740, rs2234922 (human)
DNA:polymorphisms:exon
DNA:missense mutation, haplotype:exon:p.H139R (human)
CTD PMID:21983886, PMID:21983886, PMID:22200898, PMID:22930568, PMID:19593802, PMID:21983886 RGD:11252110, RGD:11252114, RGD:11252113, RGD:11252111, RGD:11252110 NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:SNPs: :8092C>A, 19007G>A (human)
DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human)
RGD PMID:16723154, PMID:16435384 RGD:11252160, RGD:11340204 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
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 chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Erg ETS transcription factor ERG ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776115 NCBI chr11:35,645,317...35,749,637
Ensembl chr11:35,646,116...35,749,594
JBrowse link
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Acute lymphoid leukemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17255265 NCBI chr 4:167,754,684...167,992,370
Ensembl chr 4:167,754,525...167,992,168
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISS OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:8429686 RGD:11340211 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO protein:increased expression:CD34+ bone marrow cell RGD PMID:10500800, PMID:9711907 RGD:11049148, RGD:11049157 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fga fibrinogen alpha chain ISO protein:increased expression:serum (human) RGD PMID:25317080 RGD:11040558 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
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
ClinVar
CTD
OMIM
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 chr12:9,360,439...9,437,004
Ensembl chr12:9,360,672...9,436,570
JBrowse link
G Fpgs folylpolyglutamate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25013492 NCBI chr 3:11,717,667...11,729,694
Ensembl chr 3:11,717,667...11,723,327
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:blood: RGD PMID:19360458 RGD:11040460 NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:2494952 RGD:11352727 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Gnb1 G protein subunit beta 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute lymphoid leukemia
OMIM
CTD
ClinVar
PMID:25485910, PMID:27108799 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO RGD PMID:6589021 RGD:11051848 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO RGD PMID:17317918, PMID:24698347 RGD:11352774, RGD:11352812 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:24191316 RGD:11059506 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gstm1 glutathione S-transferase mu 1 disease_progression
susceptibility
no_association
ISO RGD PMID:10666194, PMID:14607752, PMID:12827651, PMID:15738600 RGD:10450829, RGD:10755410, RGD:10755409, RGD:10755321 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstp1 glutathione S-transferase pi 1 disease_progression
no_association
susceptibility
ISO DNA:haplotype:cds:
DNA:polymorphism: :1578 a>G(human)
DNA:transition mutation:exon:
RGD PMID:10666194, PMID:23979883, PMID:15738600 RGD:10450829, RGD:10755417, RGD:10755321 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 disease_progression
susceptibility
ISO RGD PMID:10666194, PMID:14607752 RGD:10450829, RGD:10755410 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G H1f2 H1.2 linker histone, cluster member susceptibility ISO DNA:SNP, haplotype:enhancer: (rs807212) (human) RGD PMID:19806355 RGD:10755490 NCBI chr17:43,638,938...43,640,445
Ensembl chr17:43,639,749...43,640,387
JBrowse link
G Hck HCK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17344919 NCBI chr 3:148,579,917...148,623,026
Ensembl chr 3:148,579,920...148,623,033
JBrowse link
G Hdac1 histone deacetylase 1 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
JBrowse link
G Hdac2 histone deacetylase 2 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO RGD PMID:23948281 RGD:9681454 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hfe homeostatic iron regulator no_association ISO DNA:missense mutation:cds:p.H63D (human)
DNA:missense mutation: :p.H63D (human)
DNA:missense mutation:cds:p.C282Y (human)
RGD PMID:10627122, PMID:17107905, PMID:10627122 RGD:10755557, RGD:10755558, RGD:10755557 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hk1 hexokinase 1 ISO protein:decreased activity:platelet RGD PMID:21921332 RGD:11353881 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Hlf HLF transcription factor, PAR bZIP family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr10:77,836,352...77,918,656
Ensembl chr10:77,840,568...77,918,191
JBrowse link
G Hoxd4 homeo box D4 ISO ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15776434 NCBI chr 3:61,634,005...61,653,581
Ensembl chr 3:61,634,005...61,651,056
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:SNP: :rs2069727(human) RGD PMID:21067287 RGD:10755691 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: LEUKEMIA, ACUTE LYMPHOCYTIC, SUSCEPTIBILITY TO, 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19684604 NCBI chr14:91,782,281...91,867,828
Ensembl chr14:91,782,354...91,867,424
JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr 9:76,621,230...76,771,017
Ensembl chr 9:76,621,230...76,768,806
JBrowse link
G Ikzf3 IKAROS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr10:86,420,757...86,509,454
Ensembl chr10:86,421,582...86,509,454
JBrowse link
G Il10 interleukin 10 treatment ISO protein:decreased expression:blood RGD PMID:21653647, PMID:15860861 RGD:11049158, RGD:11049169 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Irf4 interferon regulatory factor 4 ISO DNA:SNP:intron:rs12203592 (human) RGD PMID:19897031 RGD:11526162 NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
JBrowse link
G Itpa inosine triphosphatase treatment
no_association
ISO DNA:SNPs:exon:94C>A, 138G>A (human)
DNA:SNP:intron
RGD PMID:22009189, PMID:22009189 RGD:10766474, RGD:10766474 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
G Kdm2b lysine demethylase 2B ISO mRNA:increased expression:bone marrow (human) RGD PMID:21310926 RGD:9588255 NCBI chr12:39,021,924...39,161,954
Ensembl chr12:39,078,119...39,161,956
JBrowse link
G Kdm3b lysine demethylase 3B ISO protein:increased expression:bone marrow, mononuclear cell (human) RGD PMID:22615488 RGD:9586728 NCBI chr18:27,593,823...27,631,129
Ensembl chr18:27,576,129...27,631,088
JBrowse link
G Kdm6a lysine demethylase 6A severity ISO DNA:mutations:cds:multiple (human) RGD PMID:22377896 RGD:9684944 NCBI chr  X:4,805,493...4,945,788
Ensembl chr  X:4,806,277...4,945,944
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24736461, PMID:25730765 NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
JBrowse link
G Kras KRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:17910045, PMID:25917266 RGD:11060148, RGD:11060149 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Lmo2 LIM domain only 2 ISS OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr 3:93,909,156...93,931,888
Ensembl chr 3:93,909,156...93,931,871
JBrowse link
G Mefv MEFV innate immuity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M680I(human) RGD PMID:22942567 RGD:11531121 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Mthfr methylenetetrahydrofolate reductase disease_progression
treatment
ISO DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:677C>T (human)
CTD PMID:16706930, PMID:19923983, PMID:21644011 RGD:10449398, RGD:10449407 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase disease_progression
susceptibility
no_association
ISO DNA:SNP::rs10925235(human)
DNA:polymorphism: :66A>G(human)
DNA:polymorphism: :2756A>G(human)
RGD PMID:26605150, PMID:21618417, PMID:15159311, PMID:22453148 RGD:11531136, RGD:11531141, RGD:11531140, RGD:11531137 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:haplotype:cds:
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs3776455(human)
CTD PMID:17136115, PMID:17136115, PMID:23940529 RGD:11531133, RGD:11531135 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:25784651 RGD:11532748 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility
no_association
ISO DNA:polymorphisms: :
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms,haplotype: :
CTD PMID:22200898, PMID:25804798, PMID:22215203, PMID:21888617 RGD:11532767, RGD:11353805, RGD:11532769 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G Nbn nibrin susceptibility ISO ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute lymphoid leukemia
OMIM
ClinVar
CTD
PMID:11325820, PMID:14559852, PMID:15338273, PMID:16474176, PMID:16810201, PMID:17695489, PMID:17894553, PMID:17899368, PMID:18049891, PMID:18280732, PMID:19393249, PMID:19452044, PMID:19523210, PMID:19813148, PMID:19908051, PMID:21212067, PMID:21698754, PMID:22131123, PMID:22373003, PMID:23317186, PMID:23555315, PMID:24093751, PMID:24113799, PMID:24549055, PMID:24728327, PMID:24830725, PMID:25619955, PMID:25712764, PMID:25741868, PMID:26083025, PMID:26315354, PMID:26467025, PMID:26722329, PMID:27153395, PMID:27616075, PMID:27621404, PMID:28261280, PMID:28492532, PMID:29335925, PMID:30441849, PMID:32566746 NCBI chr 5:29,622,347...29,656,877
Ensembl chr 5:29,622,281...29,656,864
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:23922896, PMID:20510681 RGD:11533639, RGD:11533646 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Notch3 notch receptor 3 ISS OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO DNA:mutation: :609C>T (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human)
CTD PMID:11774269, PMID:17332311, PMID:18444911, PMID:11774269 RGD:10769347, RGD:10769359 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Nras NRAS proto-oncogene, GTPase disease_progression ISO DNA:missense mutation:cds: RGD PMID:25204082 RGD:11535045 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:24076604 NCBI chr14:82,119,210...82,196,501
Ensembl chr14:82,119,210...82,171,480
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO CTD Direct Evidence: marker/mechanism CTD PMID:23377183 NCBI chr 1:266,652,966...266,782,935
Ensembl chr 1:266,659,519...266,782,910
JBrowse link
G Nup214 nucleoporin 214 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 3:9,227,869...9,236,878
NCBI chr 3:10,993,584...11,070,638
Ensembl chr 3:9,227,823...9,236,736
Ensembl chr 3:9,227,823...9,236,736
JBrowse link
G Pag1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr 2:94,266,104...94,277,680
Ensembl chr 2:94,266,213...94,277,676
JBrowse link
G Pax5 paired box 5 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to, 3
ClinVar Annotator: match by term: Acute lymphoid leukemia
OMIM
CTD
ClinVar
PMID:24013638, PMID:25741868, PMID:26214592 NCBI chr 5:60,007,587...60,191,973
Ensembl chr 5:60,007,587...60,191,941
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M (rs854560), p.Q192R (rs662) (human) RGD PMID:22976839 RGD:11552580 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator severity ISO mRNA:increased expression:blood (human) RGD PMID:27275197 RGD:11535025 NCBI chr  X:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878
JBrowse link
G Prdm14 PR/SET domain 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043588 NCBI chr 5:5,710,076...5,730,560
Ensembl chr 5:5,710,392...5,730,560
JBrowse link
G Pten phosphatase and tensin homolog ISS OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphisms, haplotype:cds:HLA-DQA1*01 (human) RGD PMID:9744491 RGD:11041762 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms, haplotypes:cds:multiple
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human)
RGD PMID:22434102, PMID:9744491 RGD:11041749, RGD:11041762 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
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 chr13:50,252,707...50,258,951
Ensembl chr 8:129,371,556...129,371,973
JBrowse link
G Tal1 TAL bHLH transcription factor 1, erythroid differentiation factor susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 5:133,864,401...133,878,604
Ensembl chr 5:133,864,798...133,878,830
JBrowse link
G Tal2 TAL bHLH transcription factor 2 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 5:70,592,871...70,599,428
Ensembl chr 5:70,592,871...70,599,428
JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr 7:12,146,642...12,168,400
Ensembl chr 7:12,144,162...12,168,410
JBrowse link
G Tcn2 transcobalamin 2 ISO protein:altered activity:plasma: RGD PMID:8754152 RGD:11059889 NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
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:23066086, PMID:15621763 RGD:11038654, RGD:11038667 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO mRNA:increased expression:bone marrow, mononuclear cells (human) RGD PMID:12730115 RGD:2317244 NCBI chr15:108,526,341...108,579,268
Ensembl chr15:108,526,014...108,579,256
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tpmt thiopurine S-methyltransferase treatment
no_association
ISO DNA:SNPs:multiple
DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human)
DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human)
DNA:SNPs: :multiple
RGD PMID:17164697, PMID:22009189, PMID:22009189, PMID:24499706 RGD:11038720, RGD:10766474, RGD:10766474, RGD:11038723 NCBI chr17:18,029,090...18,047,716
Ensembl chr17:18,029,124...18,047,714
JBrowse link
G Tyms thymidylate synthetase treatment ISO DNA:repeats: : rs347430033(human) RGD PMID:25007187 RGD:11080979 NCBI chr 9:121,918,875...121,931,564
Ensembl chr 9:121,918,947...121,931,564
JBrowse link
G Uty ubiquitously transcribed tetratricopeptide repeat containing, Y-linked severity ISO DNA:mutations:cds:multiple (human) RGD PMID:22377896 RGD:9684944 NCBI chr  Y:1,065,274...1,206,127
Ensembl chr  Y:989,240...1,206,096
JBrowse link
G Vpreb1 V-set pre-B cell surrogate light chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr11:88,376,256...88,377,133
Ensembl chr11:88,376,256...88,377,133
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility
no_association
ISO DNA:missense mutation, haplotype: :p.R399Q (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.R399Q (human)
DNA:missense mutation: :p.R194W (human)
CTD PMID:21983886, PMID:21983886, PMID:19101034, PMID:19101034 RGD:11252110, RGD:11252192, RGD:11252192 NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
JBrowse link
Acute Lymphoblastic Leukemia, with Lymphomatous Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:10988075, PMID:11423618, PMID:11853795, PMID:11861307, PMID:11964322, PMID:12130516, PMID:12399961, PMID:12623848, PMID:14559829, PMID:14745431, PMID:15194504, PMID:15256422, PMID:15381060, PMID:18615627, PMID:19466505, PMID:19652056, PMID:20367437, PMID:20512393, PMID:20537386, PMID:20697894, PMID:20963643, PMID:21505103, PMID:21562040, PMID:21762985, PMID:21872826, PMID:21895409, PMID:22306673, PMID:22772060, PMID:22870928, PMID:23355941, PMID:23540562, PMID:23676790, PMID:24236021, PMID:24456693, PMID:25157968, PMID:25686603 NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
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 chr14:1,456,843...1,461,543
Ensembl chr14:1,456,844...1,461,543
JBrowse link
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 susceptibility ISO DNA:polymorphism:G15631T RGD PMID:19144407 RGD:6480472 NCBI chr 1:83,163,103...83,236,615
Ensembl chr 1:83,163,079...83,236,615
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: LYMPHOMATOUS ALL ClinVar PMID:25705862, PMID:26619011, PMID:26942290 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:22897847, PMID:22955920
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:18805579, PMID:19470474, PMID:20585391, PMID:22368270, PMID:22955920 NCBI chr 1:247,473,292...247,476,827
Ensembl chr 1:247,473,292...247,476,827
JBrowse link
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:16239216, PMID:19139102, PMID:19470474, PMID:19838194, PMID:20167706, PMID:21436584, PMID:21680795, PMID:22955920, PMID:25356970, PMID:28111307 NCBI chr 5:119,982,503...120,091,452
Ensembl chr 5:119,982,943...120,083,904
JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:18805579, PMID:19470474, PMID:20585391, PMID:22368270, PMID:22955920 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
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 chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
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 ClinVar Annotator: match by term: Severe combined immunodeficiency due to ADA deficiency
ClinVar Annotator: match by term: SCID DUE TO ADA DEFICIENCY, EARLY-ONSET
ClinVar Annotator: match by OMIM:102700
ClinVar Annotator: match by synonym: SCID due to ADA deficiency, delayed onset
OMIM
ClinVar
PMID:46025, PMID:498598, PMID:980079, PMID:1284479, PMID:1346349, PMID:1680289, PMID:1696926, PMID:1974554, PMID:2166947, PMID:2651461, PMID:2758612, PMID:2773932, PMID:2783588, PMID:3007108, PMID:3182793, PMID:3366897, PMID:3475710, PMID:3684597, PMID:3839802, PMID:6208479, PMID:7554472, PMID:7599635, PMID:8023852, PMID:8031011, PMID:8051429, PMID:8120281, PMID:8178821, PMID:8227344, PMID:8258146, PMID:8299233, PMID:8401541, PMID:8589684, PMID:8614422, PMID:8673127, PMID:9108404, PMID:9225964, PMID:9361033, PMID:9414266, PMID:9758612, PMID:9806422, PMID:10200056, PMID:11067872, PMID:11160213, PMID:11313286, PMID:11354825, PMID:11807006, PMID:14499267, PMID:16276484, PMID:16825284, PMID:17181544, PMID:17185467, PMID:18952502, PMID:19179314, PMID:19665771, PMID:19830125, PMID:20544538, PMID:21228398, PMID:21410451, PMID:21624848, PMID:21664875, PMID:21865538, PMID:22409989, PMID:22447032, PMID:22764473, PMID:22968453, PMID:23260757, PMID:24033266, PMID:25326637, PMID:25525159, PMID:25741868, PMID:25875700, PMID:25954555, PMID:26255240, PMID:26376800, PMID:27095930, PMID:27129325, PMID:27484032, PMID:27872624, PMID:28266921, PMID:28492532, PMID:29744787, PMID:30290665, PMID:30858051, PMID:31319225 NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410, PMID:10521296, PMID:11186938, PMID:11447480, PMID:15358028, PMID:16858239, PMID:17125710, PMID:18029407, PMID:19880069, PMID:20031618, PMID:22857948, PMID:23233322, PMID:23283745, PMID:24033266, PMID:24093860, PMID:24111713, PMID:24793961, PMID:25031304, PMID:25351510, PMID:25637381, PMID:25741868, PMID:26743238, PMID:26969327, PMID:27247418, PMID:27532257, PMID:27737317, PMID:27831900, PMID:28138913, PMID:28420666, PMID:28492532, PMID:28615295, PMID:28790153 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:11133745, PMID:21664875, PMID:24290284, PMID:24406074, PMID:26476733, PMID:26596586, PMID:28492532, PMID:30290665 NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
JBrowse link
adult T-cell leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc5 baculoviral IAP repeat-containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16497974 NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413
JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18688853 NCBI chr17:26,955,142...27,112,820
Ensembl chr17:26,955,142...27,112,820
JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr12:15,700,600...15,844,512
Ensembl chr12:15,700,825...15,844,512
JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 8:122,530,152...122,535,959
Ensembl chr 8:122,530,624...122,532,070
JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr10:87,057,335...87,067,444
Ensembl chr10:87,057,136...87,067,456
JBrowse link
G Cd28 Cd28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Cd80 Cd80 molecule IMP RGD PMID:10590132 RGD:6902938 NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
JBrowse link
G Cd86 CD86 molecule IMP RGD PMID:10590132 RGD:6902938 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Csnk1a1 casein kinase 1, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr18:56,887,722...56,910,610
Ensembl chr18:56,887,354...56,918,345
JBrowse link
G Csnk2a1 casein kinase 2 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 3:147,713,808...147,760,375
Ensembl chr 3:147,713,821...147,757,862
JBrowse link
G Csnk2b casein kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr20:5,108,692...5,113,675
Ensembl chr20:5,106,890...5,113,112
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:polymorphism:promoter: -670 G>A(human)
protein:increased expression:peripheral blood mononuclear cell:
RGD PMID:17962369, PMID:7513372 RGD:11049147, RGD:11049453 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110, PMID:23797717 RGD:38456007 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr20:44,436,354...44,630,316
Ensembl chr20:44,436,403...44,630,317
JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
JBrowse link
G Gpr183 G protein-coupled receptor 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr15:108,364,701...108,376,221
Ensembl chr15:108,364,701...108,376,221
JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 4:81,237,496...81,241,281
Ensembl chr 4:81,237,496...81,241,282
JBrowse link
G Icos inducible T-cell co-stimulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
JBrowse link
G Ifng interferon gamma treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110, PMID:8800741 RGD:10755707 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:76,621,230...76,771,017
Ensembl chr 9:76,621,230...76,768,806
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110, PMID:8704212 RGD:11049460 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il5 interleukin 5 disease_progression ISO protein:increased expression:serum RGD PMID:16425276 RGD:11354942 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum (human) RGD PMID:10374863 RGD:11060275 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Irf4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
JBrowse link
G Jak3 Janus kinase 3 ISO DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) RGD PMID:21821710 RGD:11531131 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
G Myb MYB proto-oncogene, transcription factor disease_progression ISO mRNA:splice variants:CD4+ T cell: RGD PMID:27307595 RGD:11532670 NCBI chr 1:16,658,178...16,690,135
Ensembl chr 1:16,659,442...16,687,817
JBrowse link
G Notch1 notch receptor 1 ISO DNA:mutations:multiple (human) RGD PMID:16707600 RGD:1580759 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Nras NRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:21586752 RGD:11535055 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 3:156,727,642...156,758,307
Ensembl chr 3:156,727,642...156,758,307
JBrowse link
G Prkcb protein kinase C, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 1:192,233,569...192,575,339
Ensembl chr 1:192,233,910...192,574,831
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24090995 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tal2 TAL bHLH transcription factor 2 ISO RGD PMID:1763056 RGD:1599285 NCBI chr 5:70,592,871...70,599,428
Ensembl chr 5:70,592,871...70,599,428
JBrowse link
G Terf2 telomeric repeat binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643074 NCBI chr19:39,271,992...39,301,506
Ensembl chr19:39,272,499...39,300,893
JBrowse link
G Tlx1 T-cell leukemia, homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1717256, PMID:1683261 RGD:1599439 NCBI chr 1:264,893,033...264,899,424
Ensembl chr 1:264,893,162...264,899,423
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
G Tp53 tumor protein p53 ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tp73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 5:171,355,876...171,415,354
Ensembl chr 5:171,355,876...171,415,354
JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:9,617,551...9,675,167
Ensembl chr 9:9,617,786...9,675,110
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
CTD PMID:10583958 RGD:1600518 NCBI chr 1:260,187,023...260,254,490
Ensembl chr 1:260,186,967...260,254,600
JBrowse link
G Btk Bruton tyrosine kinase susceptibility ISO DNA:insertions, point mutations
ClinVar Annotator: match by term: Agammaglobulinemia
CTD Direct Evidence: therapeutic
ClinVar
CTD
PMID:10352268, PMID:15142874, PMID:8162018 RGD:1600526 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
JBrowse link
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 1:197,815,422...197,822,123
Ensembl chr 1:197,815,413...197,821,936
JBrowse link
G Cd79a CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:81,763,609...81,768,039
Ensembl chr 1:81,763,614...81,767,980
JBrowse link
G Cd79b CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:94,497,445...94,500,591
Ensembl chr10:94,497,448...94,500,591
JBrowse link
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660746 RGD:1599837 NCBI chr 3:8,801,544...8,829,506
Ensembl chr 3:8,802,852...8,828,533
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISS OMIM:601495 | OMIM:612692 | OMIM:613500 | OMIM:613501 | OMIM:613502 | OMIM:613506 | OMIM:615214 MouseDO NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Hypogammaglobulinemia ClinVar PMID:25741868, PMID:28782633 NCBI chr 4:120,453,577...120,467,932
Ensembl chr 4:120,453,581...120,467,932
JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:12,146,642...12,168,400
Ensembl chr 7:12,144,162...12,168,410
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 ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive OMIM
ClinVar
PMID:10525050, PMID:11920841, PMID:24728327, PMID:28492532 NCBI chr 1:81,763,609...81,768,039
Ensembl chr 1:81,763,614...81,767,980
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 ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar Annotator: match by OMIM:613502
OMIM
ClinVar
PMID:10583958, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:260,187,023...260,254,490
Ensembl chr 1:260,186,967...260,254,600
JBrowse link
G Zfp518a zinc finger protein 518A ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:260,152,881...260,178,360
Ensembl chr 1:260,153,645...260,178,349
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 ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant OMIM
ClinVar
PMID:14660746, PMID:28492532 NCBI chr 3:8,801,544...8,829,506
Ensembl chr 3:8,802,852...8,828,533
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 ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive
ClinVar Annotator: match by OMIM:612692
OMIM
ClinVar
PMID:17675462, PMID:17709424, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr10:94,497,445...94,500,591
Ensembl chr10:94,497,448...94,500,591
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 ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive OMIM
ClinVar
PMID:22351933, PMID:25133428 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
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 ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant ClinVar
OMIM
PMID:21693761, PMID:24216514, PMID:25741868, PMID:28492532 NCBI chr 7:12,146,642...12,168,400
Ensembl chr 7:12,144,162...12,168,410
JBrowse link
Agammaglobulinemia, non-Bruton type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Agammaglobulinemia, non-Bruton type ClinVar PMID:7678697, PMID:7809124, PMID:7849697, PMID:7849721, PMID:7880320, PMID:8090769, PMID:8162056, PMID:8380905, PMID:8594569, PMID:8695804, PMID:8939985, PMID:9143921, PMID:9188445, PMID:9445504, PMID:9524120, PMID:9545398, PMID:9880544, PMID:10092645, PMID:11206059, PMID:11410123, PMID:11445810, PMID:11472359, PMID:11668622, PMID:11742281, PMID:12217331, PMID:14974089, PMID:15661032, PMID:16951917, PMID:17327079, PMID:17765309, PMID:18518992, PMID:19039656, PMID:19904586, PMID:20529312, PMID:23424595, PMID:25741868, PMID:27512878, PMID:27980540, PMID:28492532, PMID:29424453, PMID:29503650, PMID:30072168, PMID:30564228 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Agammaglobulinemia, non-Bruton type ClinVar PMID:25741868 NCBI chr 1:81,763,609...81,768,039
Ensembl chr 1:81,763,614...81,767,980
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, PMID:15659732 RGD:1600902 NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157164 NCBI chr 6:135,107,262...135,112,793
Ensembl chr 6:135,107,271...135,112,775
JBrowse link
G Irf4 interferon regulatory factor 4 ISO DNA:translocation RGD PMID:18987657 RGD:11526155 NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:12145210 RGD:1549449 NCBI chr19:26,092,972...26,094,756
Ensembl chr19:26,092,974...26,094,756
JBrowse link
G Npm1 nucleophosmin 1 ISO RGD PMID:15659732 RGD:1600902 NCBI chr10:18,080,949...18,091,062
Ensembl chr10:18,080,950...18,090,950
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261581 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10908157, PMID:17261581 NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
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 chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Ankrd22 ankyrin repeat domain 22 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,430,750...252,461,346
Ensembl chr 1:252,429,677...252,461,461
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,807,062...252,811,409
Ensembl chr 1:252,807,065...252,808,380
JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome
DNA:mutations:cds:555C>T,889A>G(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:601859
OMIM
ClinVar
CTD
PMID:4852259, PMID:7540117, PMID:9028321, PMID:9927496, PMID:10090885, PMID:10515860, PMID:10875918, PMID:12657942, PMID:15459303, PMID:15877736, PMID:16537120, PMID:17674358, PMID:20682655, PMID:20935634, PMID:21183795, PMID:21490157, PMID:21625619, PMID:22237435, PMID:23407489, PMID:24033266, PMID:24728327, PMID:25741868, PMID:26942442, PMID:28492532, PMID:10200300, PMID:9028321, PMID:10497009 RGD:12904015, RGD:12903983, RGD:12903956 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO ClinVar Annotator: match by OMIM:601859
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
OMIM
PMID:17605793, PMID:25741868, PMID:28492532 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Ifit2 interferon-induced protein with tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,894,663...252,900,727
Ensembl chr 1:252,894,663...252,900,726
JBrowse link
G Ifit3 interferon-induced protein with tetratricopeptide repeats 3 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,906,234...252,911,377
Ensembl chr 1:252,906,234...252,911,382
JBrowse link
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904
JBrowse link
G Lipm lipase, family member M ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,409,232...252,428,567
Ensembl chr 1:252,409,268...252,428,774
JBrowse link
G Lipn lipase, family member N ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,375,941...252,394,226
Ensembl chr 1:252,375,933...252,396,460
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:21376533 RGD:13204846 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Stambpl1 STAM binding protein-like 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,490,125...252,536,113
Ensembl chr 1:252,497,452...252,536,104
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 ClinVar Annotator: match by term: Caspase-8 deficiency
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
OMIM
PMID:12353035, PMID:15601643, PMID:15998955, PMID:17293864, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30267714 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
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 ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III OMIM
ClinVar
PMID:11976687, PMID:23319571, PMID:23430113, PMID:23666743, PMID:25741868, PMID:28492532, PMID:30257684 NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746
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 ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV
ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder
OMIM
ClinVar
PMID:2278970, PMID:3122217, PMID:3627975, PMID:7773929, PMID:8439212, PMID:12460918, PMID:15696205, PMID:15842656, PMID:16361624, PMID:16434492, PMID:16618717, PMID:17332249, PMID:17384584, PMID:17910045, PMID:18316791, PMID:18794081, PMID:19018267, PMID:19029981, PMID:19047918, PMID:19075190, PMID:19114683, PMID:19255327, PMID:19358724, PMID:19679400, PMID:19773371, PMID:20805368, PMID:20921462, PMID:20921465, PMID:20949522, PMID:20978259, PMID:21063026, PMID:21079152, PMID:21228335, PMID:21398618, PMID:21975775, PMID:22025163, PMID:22392911, PMID:22407852, PMID:22499344, PMID:22683711, PMID:22734028, PMID:23014527, PMID:23096712, PMID:23182985, PMID:23406027, PMID:24033266, PMID:24558511, PMID:25044103, PMID:25157968, PMID:25695684, PMID:25808193, PMID:26623049, PMID:28492532, PMID:29298116, PMID:31891627 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV OMIM
ClinVar
PMID:2407301, PMID:2674680, PMID:2989702, PMID:8120410, PMID:16291983, PMID:17332249, PMID:17517660, PMID:18375819, PMID:18390968, PMID:19657110, PMID:19775298, PMID:20130576, PMID:20179705, PMID:21079152, PMID:23414587, PMID:23431193, PMID:25157968, PMID:26619011 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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 chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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 chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
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 chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V
ClinVar Annotator: match by term: CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION
OMIM
ClinVar
PMID:25213377, PMID:25329329, PMID:25741868, PMID:26478010, PMID:26884280, PMID:27102614, PMID:27577878, PMID:27908448, PMID:28492532, PMID:28960754, PMID:29077208, PMID:29225858, PMID:29305966, PMID:29729943, PMID:30048690, PMID:30250467, PMID:30326257, PMID:30443250, PMID:30940614 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V ClinVar PMID:28492532, PMID:29729943, PMID:30326257 NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
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 chr 9:67,290,004...67,370,208
Ensembl chr 9:67,293,309...67,341,341
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 ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7
ClinVar Annotator: match by term: Osteopetrosis autosomal recessive 7
ClinVar Annotator: match by OMIM:612301
OMIM
ClinVar
PMID:15231021, PMID:18606301, PMID:19940926, PMID:28492532 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
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 susceptibility ISO DNA:SNPs,haplotype: :rs1481012,rs2231142(human) RGD PMID:21918980 RGD:11080977 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Acoxl acyl-CoA oxidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 3:120,414,311...120,724,809
Ensembl chr 3:120,414,291...120,726,336
JBrowse link
G Aicda activation-induced cytidine deaminase disease_progression ISO RGD PMID:21133730 RGD:11039455 NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Apoe apolipoprotein E disease_progression ISO RGD PMID:18784741 RGD:11040549 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17968022 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO DNA:translocation:5' utr: (human) RGD PMID:11719382 RGD:11100004 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment
severity
no_association
ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:B cell (human)
DNA:snp:promoter:g.-938C>A (human)
CTD PMID:21750559, PMID:23770605, PMID:17296974, PMID:20001236, PMID:17959858, PMID:16960146 RGD:11522735, RGD:11526110, RGD:11526105, RGD:11526104 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bmf Bcl2 modifying factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 3:110,303,515...110,324,125
Ensembl chr 3:110,306,067...110,324,084
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar PMID:12068308, PMID:14612909, PMID:14679157, PMID:14688025, PMID:17096326, PMID:17119447, PMID:17311103, PMID:18368129, PMID:18794803, PMID:19383316, PMID:19537845, PMID:19913317, PMID:20350999, PMID:20619739, PMID:21129611, PMID:22310681, PMID:23352452, PMID:24033266, PMID:25157968, PMID:26619011, PMID:28492532, PMID:29595366 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Btk Bruton tyrosine kinase treatment ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:24869598, PMID:28492532, PMID:23045577 RGD:11040699 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
JBrowse link
G Cbl Cbl proto-oncogene severity ISO mRNA,protein:increased expression:CD5+ B cell:
DNA:hypophosphorylation:CD5+ B cell:
RGD PMID:17804547, PMID:17804547 RGD:11038803, RGD:11038803 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Ccdc50 coiled-coil domain containing 50 ISO RGD PMID:19641524 RGD:9685139 NCBI chr11:76,742,179...76,804,695
Ensembl chr11:76,747,865...76,804,510
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO mouse-human chimeric gene in human RGD PMID:20882050 RGD:11352235 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd5 Cd5 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 1:226,770,912...226,791,861
Ensembl chr 1:226,770,744...226,791,879
JBrowse link
G Cd79b CD79b molecule ISO protein:decreased expression:B lymphocyte, cell surface (human) RGD PMID:9269755 RGD:11250403 NCBI chr10:94,497,445...94,500,591
Ensembl chr10:94,497,448...94,500,591
JBrowse link
G Cd86 CD86 molecule severity ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25179679 RGD:11354969 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr 1:143,171,457...143,278,485
Ensembl chr 1:143,171,264...143,278,485
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO protein:increased expression:T cell RGD PMID:16094420, PMID:15914560 RGD:11344923, RGD:11352246 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO RGD PMID:18077792 RGD:11251735 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO mRNA:decreased expression: B cell RGD PMID:15467427 RGD:9589146 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit severity ISO DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:22739018, PMID:19484764 RGD:11252203, RGD:11252204 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr 9:100,660,366...100,767,940
Ensembl chr 9:100,660,394...100,767,940
JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO RGD PMID:12901972 RGD:11049461 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:25741868, PMID:26619011 NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa no_association ISO DNA:SNP:exon:p.F158V (rs396991) (human) RGD PMID:14563637 RGD:11352260 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Gnas GNAS complex locus disease_progression ISO DNA:polymorphism:393T>C (human) RGD PMID:17020971 RGD:1601379 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
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:31775759, PMID:168335863 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Icam1 intercellular adhesion molecule 1 severity ISO RGD PMID:7658704 RGD:11354983 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:polymorphism: :847A>T(human) RGD PMID:19757192 RGD:10755703 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il10 interleukin 10 disease_progression
no_association
ISO protein:increased expression:serum
DNA:SNPs: :multiple
DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)
RGD PMID:22945689, PMID:10638947, PMID:19573080, PMID:19573080 RGD:11041895, RGD:11049174, RGD:11049165, RGD:11049165 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr13:47,663,592...47,677,869
Ensembl chr13:47,664,080...47,670,407
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:19074885 RGD:11051968 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta severity ISO DNA:SNP:promoter:-511C>T (human)
protein:decreased expression:plasma:
RGD PMID:18271063, PMID:10870116 RGD:11051967, RGD:11522755 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:plasma: RGD PMID:10870116 RGD:11522755 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:plasma:
CTD Direct Evidence: marker/mechanism
CTD PMID:18006695, PMID:10870116 RGD:11522755 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461, PMID:12393648, PMID:12079517 RGD:11526160, RGD:11530024 NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
JBrowse link
G Itga4 integrin subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21093051 NCBI chr 3:66,178,745...66,265,547
Ensembl chr 3:66,193,059...66,263,960
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:2278970, PMID:3122217, PMID:12460918, PMID:15696205, PMID:16361624, PMID:16434492, PMID:16618717, PMID:18316791, PMID:18794081, PMID:19075190, PMID:19114683, PMID:19679400, PMID:20921462, PMID:20921465, PMID:21228335, PMID:22407852, PMID:22722830, PMID:23325582, PMID:25157968, PMID:26619011 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 2:236,232,115...236,345,061
Ensembl chr 2:236,233,239...236,345,056
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: Leukemia, B-cell, chronic
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:31775759, PMID:168335863 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Mir143 microRNA 143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:56,971,273...56,971,377
Ensembl chr18:56,971,273...56,971,377
JBrowse link
G Mir145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:56,969,907...56,969,994
Ensembl chr18:56,969,907...56,969,994
JBrowse link
G Ms4a1 membrane spanning 4-domains A1 ISO RGD PMID:19911856 RGD:2316994 NCBI chr 1:227,429,241...227,441,492
Ensembl chr 1:227,429,596...227,441,442
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16706930 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:1654209, PMID:2278970, PMID:2674680, PMID:3122217, PMID:6587382, PMID:8120410, PMID:10821536, PMID:12460918, PMID:12727991, PMID:14508525, PMID:15899789, PMID:16273091, PMID:16291983, PMID:16434492, PMID:17699718, PMID:18390968, PMID:18633438, PMID:18668139, PMID:18948947, PMID:19075190, PMID:19657110, PMID:19880792, PMID:20130576, PMID:20149136, PMID:20179705, PMID:20406486, PMID:20619739, PMID:20736745, PMID:21107323, PMID:21305640, PMID:21576590, PMID:21729679, PMID:21829508, PMID:22407852, PMID:22499344, PMID:22718121, PMID:22761467, PMID:22773810, PMID:23076151, PMID:23392294, PMID:23400451, PMID:23414587, PMID:23515407, PMID:23538902, PMID:23569304, PMID:23614898, PMID:24006476, PMID:24033266, PMID:24148783, PMID:24370118, PMID:24671188, PMID:25157968, PMID:25348872, PMID:25695684, PMID:26619011, PMID:26821351, PMID:27050078, PMID:28492532, PMID:28780248 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11003599 NCBI chr12:39,353,613...39,396,042
Ensembl chr12:39,353,613...39,396,042
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 chr10:94,850,971...94,913,202 JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27542411 NCBI chr19:50,039,410...50,173,543
Ensembl chr19:50,045,020...50,173,220
JBrowse link
G Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr18:62,159,128...62,179,635
Ensembl chr18:62,174,670...62,181,102
JBrowse link
G Polb DNA polymerase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr16:74,237,001...74,260,272
Ensembl chr16:74,237,001...74,260,271
JBrowse link
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr 6:134,804,128...134,941,912
Ensembl chr 6:134,804,141...134,939,358
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO protein:increased expression:mononuclear cell (human) RGD PMID:16620968 RGD:11535021 NCBI chr  X:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878
JBrowse link
G Prkd2 protein kinase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr 1:78,767,911...78,796,223
Ensembl chr 1:78,767,911...78,796,231
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16314473 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Qpct glutaminyl-peptide cyclotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 6:1,657,110...1,689,575
Ensembl chr 6:1,657,331...1,689,559
JBrowse link
G Rbl2 RB transcriptional corepressor like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr19:17,300,088...17,346,865
Ensembl chr19:17,300,089...17,346,808
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 chr 9:61,594,620...61,634,510
Ensembl chr 9:61,594,620...61,634,510
JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr 1:220,645,685...220,665,611
Ensembl chr 1:220,645,672...220,665,603
JBrowse link
G Sp140 SP140 nuclear body protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr 9:92,618,088...92,665,431
Ensembl chr 9:92,618,352...92,665,430
JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO RGD PMID:17344921 RGD:11038662 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:21812019 RGD:5685033 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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 chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b susceptibility ISO DNA:missense mutation:cds:p.E228A (c.683A>C) (human)
DNA:SNP: :1322A>G (human)
RGD PMID:16217763, PMID:15531454 RGD:11038717, RGD:11038718 NCBI chr15:51,433,853...51,464,215 JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO protein:increased expression:serum RGD PMID:15488762 RGD:1549466 NCBI chr10:56,286,964...56,290,680
Ensembl chr10:56,286,887...56,289,952
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
G Topbp1 DNA topoisomerase II binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 8:111,790,655...111,835,224
Ensembl chr 8:111,790,678...111,827,151
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
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: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, PMID:31775759, PMID:10867151 RGD:11075074 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Vdr vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12446453 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr14:108,007,421...108,049,088
Ensembl chr14:108,007,724...108,049,660
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 severity
no_association
ISO DNA:SNP: :p.R399Q (rs25487) (human)
DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human)
RGD PMID:19484764, PMID:19484764 RGD:11252204, RGD:11252204 NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
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 chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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 susceptibility ISO DNA:SNP: :rs6857600(human) RGD PMID:21918980 RGD:11080977 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Aicda activation-induced cytidine deaminase ISO RGD PMID:17251349 RGD:11039449 NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Bcl2l2 Bcl2-like 2 disease_progression ISO RGD PMID:28094768 RGD:14394511 NCBI chr15:33,543,774...33,549,165
Ensembl chr15:33,544,312...33,549,164
JBrowse link
G Bcl6 BCL6, transcription repressor ISO diffuse large B-cell lymphoma RGD PMID:11821949 RGD:1600111 NCBI chr11:80,255,790...80,279,075
Ensembl chr11:80,255,790...80,279,075
JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426
Ensembl chr20:3,910,555...3,917,426
JBrowse link
G Btk Bruton tyrosine kinase treatment ISO RGD PMID:25662332 RGD:11040764 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
JBrowse link
G Cbx7 chromobox 7 ISO RGD PMID:17374722 RGD:11352707 NCBI chr 7:121,136,067...121,153,503
Ensembl chr 7:121,136,058...121,153,383
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO RGD PMID:8469286 RGD:10450244 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11042651 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Eaf2 ELL associated factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20564326 NCBI chr11:66,878,658...66,923,092
Ensembl chr11:66,878,658...66,923,092
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit severity ISO
ISS
MouseDO PMID:23982173 RGD:10755356 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Il21r interleukin 21 receptor ISO diffuse large B-cell lymphoma RGD PMID:11821949 RGD:1600111 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24837469 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
G Kat5 lysine acetyltransferase 5 severity ISO RGD PMID:17728759 RGD:9588481 NCBI chr 1:220,967,795...220,974,596
Ensembl chr 1:220,967,796...220,974,597
JBrowse link
G Lgals1 galectin 1 IEP protein:increased expression:primary tumor (rat) RGD PMID:16733672 RGD:2316550 NCBI chr 7:120,153,184...120,156,290
Ensembl chr 7:120,153,184...120,156,289
JBrowse link
G Mir143 microRNA 143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:56,971,273...56,971,377
Ensembl chr18:56,971,273...56,971,377
JBrowse link
G Mir145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:56,969,907...56,969,994
Ensembl chr18:56,969,907...56,969,994
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14633661 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14654083 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24531327 NCBI chr 3:164,665,462...164,711,936
Ensembl chr 3:164,665,532...164,711,848
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
G Tnfsf9 TNF superfamily member 9 ISO RGD PMID:10202049 RGD:2317349 NCBI chr 9:9,909,942...9,912,276
Ensembl chr 9:9,909,948...9,912,276
JBrowse link
B-lymphoblastic leukemia/lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase treatment ISO RGD PMID:21481795 RGD:11038814 NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 treatment ISO RGD PMID:26116659 RGD:11541128 NCBI chr17:69,761,126...69,778,021
Ensembl chr17:69,761,118...69,778,021
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 chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Atf7ip activating transcription factor 7 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr 4:170,476,998...170,563,063
Ensembl chr 4:170,518,673...170,559,532
JBrowse link
G Bcl2l1 Bcl2-like 1 severity ISO RGD PMID:18216295 RGD:11531108 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426
Ensembl chr20:3,910,555...3,917,426
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24154679 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:B cell (mouse) RGD PMID:23169640 RGD:11353783 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment
susceptibility
ISO DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human) RGD PMID:16618932, PMID:26104880, PMID:21622646 RGD:11251751, RGD:11057958, RGD:11251772 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 treatment ISO RGD PMID:21622646, PMID:16618932 RGD:11251772, RGD:11251751
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 chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Crlf2 cytokine receptor-like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr14:1,456,843...1,461,543
Ensembl chr14:1,456,844...1,461,543
JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 treatment ISO DNA:polymorphisms: : RGD PMID:21225912 RGD:11353807 NCBI chr12:19,074,288...19,114,491
Ensembl chr12:19,074,583...19,114,399
JBrowse link
G Dux4 double homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27019113 NCBI chr16:3,754,968...3,766,532
Ensembl chr16:3,754,968...3,765,917
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 chr10:2,010,140...2,037,953
Ensembl chr10:2,010,648...2,037,891
JBrowse link
G Etv6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15217836, PMID:24413735, PMID:25807284 NCBI chr 4:167,754,684...167,992,370
Ensembl chr 4:167,754,525...167,992,168
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO protein:increased expression:B lymphoblast: RGD PMID:16894461 RGD:11041855 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G F3 coagulation factor III, tissue factor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
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 chr13:93,651,486...93,677,371
Ensembl chr13:93,651,484...93,677,377
JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO mRNA,protein:increased expression:bone marrow: RGD PMID:8562934 RGD:11049466 NCBI chr12:9,360,439...9,437,004
Ensembl chr12:9,360,672...9,436,570
JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 disease_progression ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism
CTD PMID:24141364, PMID:22699455 RGD:11075072 NCBI chr14:91,782,281...91,867,828
Ensembl chr14:91,782,354...91,867,424
JBrowse link
G Il5 interleukin 5 ISO RGD PMID:15368290 RGD:7241068 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:25006123, PMID:20585039, PMID:21818355 RGD:11526159, RGD:11530030, RGD:11530020 NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
JBrowse link
G Irf8 interferon regulatory factor 8 ISO RGD PMID:20585039 RGD:11530030 NCBI chr19:54,314,859...54,336,643
Ensembl chr19:54,314,865...54,336,640
JBrowse link
G Mga MAX dimerization protein MGA ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr 3:111,669,645...111,760,822
Ensembl chr 3:111,699,021...111,759,911
JBrowse link
G Myb MYB proto-oncogene, transcription factor disease_progression ISO mRNA:splice variants:cds: RGD PMID:21853052 RGD:11532669 NCBI chr 1:16,658,178...16,690,135
Ensembl chr 1:16,659,442...16,687,817
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:22120021 RGD:7207416 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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 chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Pax5 paired box 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24013638, PMID:30643249 NCBI chr 5:60,007,587...60,191,973
Ensembl chr 5:60,007,587...60,191,941
JBrowse link
G Pbx1 PBX homeobox 1 ISO OMIM NCBI chr13:86,390,741...86,671,460
Ensembl chr13:86,390,741...86,451,002
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha treatment ISO RGD PMID:22447844 RGD:11075097 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
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 chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Runx1 RUNX family transcription factor 1 onset ISO DNA:amplification
CTD Direct Evidence: marker/mechanism
CTD PMID:15217836, PMID:24413735, PMID:21822204 RGD:6482828 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19796711 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868, PMID:26080840, PMID:26295973, PMID:28492532 NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246562 NCBI chr 7:12,146,642...12,168,400
Ensembl chr 7:12,144,162...12,168,410
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO RGD PMID:15488762 RGD:1549466 NCBI chr10:56,286,964...56,290,680
Ensembl chr10:56,286,887...56,289,952
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO DNA:mutations: : RGD PMID:22699455 RGD:11075072 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:8621495, PMID:12640141, PMID:16987884, PMID:25741868, PMID:28492532, PMID:28811308 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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 chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
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 chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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 chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
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 chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:21520333, PMID:23104009, PMID:23621914, PMID:25741868, PMID:26689913, PMID:28492532 NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:192,064,586...192,088,547
Ensembl chr 1:192,064,589...192,088,520
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 chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:10678659, PMID:12734318, PMID:12838562, PMID:18716613, PMID:25741868 NCBI chr 7:117,765,892...117,773,128
Ensembl chr 7:117,763,783...117,773,134
JBrowse link
B-lymphoblastic leukemia/lymphoma with hyperdiploidy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
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 chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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 chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
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 chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:24033266, PMID:25741868 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
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 chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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 chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
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 chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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 chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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 ClinVar Annotator: match by term: Blau syndrome
ClinVar Annotator: match by term: Jabs syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sarcoidosis, early-onset
ClinVar Annotator: match by OMIM:186580
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snp:cds:p.E383K (human)
DNA:snp:cds:p.E383G (human)
DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
OMIM
ClinVar
CTD
PMID:7825454, PMID:9124059, PMID:11087742, PMID:11385576, PMID:11385577, PMID:11425413, PMID:11528384, PMID:11875755, PMID:11910337, PMID:12019468, PMID:12115249, PMID:12512038, PMID:12557156, PMID:12577202, PMID:12626759, PMID:12630966, PMID:14508222, PMID:14522785, PMID:14765395, PMID:15024686, PMID:15044951, PMID:15086578, PMID:15190267, PMID:15198989, PMID:15320482, PMID:15459013, PMID:15554080, PMID:15571588, PMID:15712650, PMID:15770725, PMID:15812565, PMID:15967635, PMID:15998797, PMID:16278823, PMID:16485124, PMID:16804397, PMID:17157607, PMID:17207093, PMID:17393391, PMID:17941079, PMID:17968944, PMID:18056399, PMID:18240302, PMID:18419343, PMID:18489434, PMID:18507017, PMID:18541930, PMID:18718560, PMID:18955195, PMID:19116920, PMID:19467619, PMID:19479836, PMID:19479837, PMID:19713276, PMID:20032092, PMID:20039400, PMID:20084402, PMID:20199415, PMID:20230816, PMID:20565245, PMID:20959815, PMID:21274544, PMID:21335489, PMID:21548950, PMID:21830272, PMID:21914217, PMID:21983784, PMID:22319155, PMID:22470564, PMID:22509093, PMID:22684479, PMID:22926499, PMID:22942351, PMID:23102769, PMID:23334666, PMID:24033266, PMID:24391456, PMID:24583628, PMID:24595243, PMID:24713464, PMID:24803813, PMID:24876985, PMID:24960071, PMID:25093298, PMID:25136265, PMID:25416713, PMID:25429073, PMID:25741868, PMID:25829188, PMID:26070941, PMID:26164256, PMID:26316104, PMID:26500656, PMID:26606664, PMID:27306066, PMID:27339507, PMID:28492532, PMID:28639104, PMID:28814775, PMID:29248579, PMID:29503906, PMID:29697845, PMID:30166421, PMID:19479837, PMID:15812565, PMID:19116920, PMID:11528384 RGD:8547518, RGD:8547515, RGD:8158051, RGD:8158040 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
Burkitt lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4galt alpha 1,4-galactosyltransferase (P blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:11482875 NCBI chr 7:124,085,832...124,110,440
Ensembl chr 7:124,085,834...124,089,385
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Bbc3 Bcl-2 binding component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18573879 NCBI chr 1:78,261,491...78,267,802 JBrowse link
G Bcl2l2 Bcl2-like 2 ISO mRNA:increased expression:lymph node RGD PMID:28094768 RGD:14394511 NCBI chr15:33,543,774...33,549,165
Ensembl chr15:33,544,312...33,549,164
JBrowse link
G Cct6b chaperonin containing TCP1 subunit 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr10:70,069,479...70,118,194
Ensembl chr10:70,069,491...70,118,194
JBrowse link
G Cd40 CD40 molecule treatment ISO human cell line in a mouse model RGD PMID:9192773 RGD:11520790 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr20:12,806,957...12,820,466
Ensembl chr20:12,806,957...12,820,466
JBrowse link
G Gna13 G protein subunit alpha 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr10:97,647,196...97,680,030
Ensembl chr10:97,647,111...97,684,730
JBrowse link
G Id3 inhibitor of DNA binding 3, HLH protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143595, PMID:23143597 NCBI chr 5:154,489,603...154,491,172
Ensembl chr 5:154,489,590...154,491,223
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Burkitt lymphoma
DNA:mutations:exons:multiple (human)
ClinVar Annotator: match by OMIM:113970
ClinVar
OMIM
PMID:8220424, PMID:25157968, PMID:8220424, PMID:8397370 RGD:1601453, RGD:10059619 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Pbx1 PBX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982, PMID:17244677 NCBI chr13:86,390,741...86,671,460
Ensembl chr13:86,390,741...86,451,002
JBrowse link
G Pc pyruvate carboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G Sall3 spalt-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr18:77,572,200...77,591,710
Ensembl chr18:77,573,702...77,579,969
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982, PMID:17244677 NCBI chr 7:12,146,642...12,168,400
Ensembl chr 7:12,144,162...12,168,410
JBrowse link
Castleman disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15182131 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
chronic lymphocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak3 adenylate kinase 3 ISO protein:increased expression:peripheral blood mononuclear cell RGD PMID:27078856 RGD:13842476 NCBI chr 1:247,144,486...247,169,690
Ensembl chr 1:247,144,491...247,169,693
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:12068308, PMID:12198537, PMID:12692057, PMID:12960123, PMID:14612909, PMID:14679157, PMID:14688025, PMID:15035987, PMID:16187918, PMID:17096326, PMID:17119447, PMID:17311103, PMID:17704260, PMID:18039235, PMID:18060073, PMID:18368129, PMID:18413255, PMID:18794803, PMID:19206169, PMID:19383316, PMID:19537845, PMID:19913317, PMID:20350999, PMID:20619739, PMID:21129611, PMID:21639808, PMID:22048237, PMID:22310681, PMID:22495831, PMID:22663011, PMID:22972589, PMID:23352452, PMID:23680146, PMID:24033266, PMID:24451042, PMID:25155755, PMID:25157968, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29595366 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:24869598, PMID:28492532 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:9450802 RGD:11522717 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd86 CD86 molecule ISO DNA:hypermethylation (human) RGD PMID:23154584 RGD:11354975 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:25741868, PMID:26619011 NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
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:31775759, PMID:168335863 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:21911837 RGD:11354912 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression ISO DNA:SNPs:3' utr:multiple
DNA:SNP: :rs872071 (human)
DNA:missense mutation:exon:p.L116R (human)
RGD PMID:23897826, PMID:20123861, PMID:20731705, PMID:23926303, PMID:20090783, PMID:21791429 RGD:11526156, RGD:11530031, RGD:11530029, RGD:11530026, RGD:11530021, RGD:11526158 NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:2278970, PMID:3122217, PMID:12460918, PMID:15696205, PMID:16361624, PMID:16434492, PMID:16618717, PMID:18316791, PMID:18794081, PMID:19075190, PMID:19114683, PMID:19679400, PMID:20921462, PMID:20921465, PMID:21228335, PMID:22407852, PMID:22722830, PMID:23325582, PMID:25157968, PMID:26619011 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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:31775759, PMID:168335863 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:29658610 RGD:21081544 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir21 microRNA 21 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:29658610 RGD:21081544 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:20956327 RGD:11340590 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:21179087, PMID:22931316, PMID:23215570, PMID:26619011, PMID:28492532 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:1654209, PMID:2278970, PMID:2674680, PMID:3122217, PMID:6587382, PMID:8120410, PMID:10821536, PMID:12460918, PMID:12727991, PMID:14508525, PMID:15899789, PMID:16273091, PMID:16291983, PMID:16434492, PMID:17699718, PMID:18390968, PMID:18633438, PMID:18668139, PMID:18948947, PMID:19075190, PMID:19657110, PMID:19880792, PMID:20130576, PMID:20149136, PMID:20179705, PMID:20406486, PMID:20619739, PMID:20736745, PMID:21107323, PMID:21305640, PMID:21576590, PMID:21729679, PMID:21829508, PMID:22407852, PMID:22499344, PMID:22718121, PMID:22761467, PMID:22773810, PMID:23076151, PMID:23392294, PMID:23400451, PMID:23414587, PMID:23515407, PMID:23538902, PMID:23569304, PMID:23614898, PMID:24006476, PMID:24033266, PMID:24148783, PMID:24370118, PMID:24671188, PMID:25157968, PMID:25348872, PMID:25695684, PMID:26619011, PMID:26821351, PMID:27050078, PMID:28492532, PMID:28780248 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:24869598 NCBI chr19:50,039,410...50,173,543
Ensembl chr19:50,045,020...50,173,220
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26254371 RGD:11073982 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:12717436, PMID:14644997, PMID:15385933, PMID:15710330, PMID:15928039, PMID:16358218, PMID:17972951, PMID:19047918, PMID:19179468, PMID:24033266, PMID:25097206, PMID:25395418, PMID:26619011, PMID:27069254, PMID:28098151, PMID:30868567 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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:23287625, PMID:22569400 RGD:11533998, RGD:11535006 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:23634996, PMID:26619011 NCBI chr 9:61,594,620...61,634,510
Ensembl chr 9:61,594,620...61,634,510
JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr 1:220,645,685...220,665,611
Ensembl chr 1:220,645,672...220,665,603
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 chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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, PMID:31775759 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr14:108,007,421...108,049,088
Ensembl chr14:108,007,724...108,049,660
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 chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO RGD PMID:9853108 RGD:6218983 NCBI chr 1:279,203,046...279,572,789 JBrowse link
G Il5 interleukin 5 severity ISO RGD PMID:22772323 RGD:6892720 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:22772323 RGD:6892720 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Vtn vitronectin ISO RGD PMID:12126637 RGD:1580817 NCBI chr10:65,767,960...65,771,040
Ensembl chr10:65,767,053...65,771,038
JBrowse link
common variable immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 1:197,815,422...197,822,123
Ensembl chr 1:197,815,413...197,821,936
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd81 Cd81 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:216,237,663...216,253,460
Ensembl chr 1:216,237,697...216,253,311
JBrowse link
G Cr2 complement C3d receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:113,890,274...113,927,824
Ensembl chr13:113,890,272...113,927,877
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 chr17:78,782,512...78,812,140
Ensembl chr17:78,783,437...78,812,111
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO protein:decreased expression:blood, monocyte RGD PMID:17900300 RGD:5147988 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Icos inducible T-cell co-stimulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:91,782,281...91,867,828
Ensembl chr14:91,782,354...91,867,424
JBrowse link
G Il21 interleukin 21 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:123,965,021...123,972,356
Ensembl chr 2:123,965,021...123,972,356
JBrowse link
G Il21r interleukin 21 receptor ISO DNA:SNPs:exons: RGD PMID:18254984 RGD:6892941 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
G Lrba LPS responsive beige-like anchor protein ISS OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767 MouseDO NCBI chr 2:185,590,983...186,110,491
Ensembl chr 2:185,524,774...186,110,495
JBrowse link
G Manba mannosidase beta ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr 2:240,668,213...240,760,264
Ensembl chr 2:240,668,195...240,760,261
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 chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Ms4a1 membrane spanning 4-domains A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:227,429,241...227,441,492
Ensembl chr 1:227,429,596...227,441,442
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar Annotator: match by term: Common variable agammaglobulinemia
CTD
ClinVar
PMID:25741868, PMID:29477724 NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
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 chr 1:266,050,634...266,059,277
Ensembl chr 1:266,053,002...266,059,256
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:T cell (human) RGD PMID:22697005 RGD:6771226 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:18463379, PMID:24331380, PMID:25741868, PMID:26457731, PMID:28492532 NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms (human) RGD PMID:10361244 RGD:5147864 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by OMIM:240500
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant
ClinVar Annotator: match by term: Common variable agammaglobulinemia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable immunodeficiency 2
ClinVar
CTD
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:18200502, 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 chr10:47,399,834...47,422,907
Ensembl chr10:47,412,582...47,420,951
JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 7:123,453,799...123,456,289
Ensembl chr 7:123,453,788...123,456,268
JBrowse link
G Tnfsf12 TNF superfamily member 12 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:56,290,780...56,300,137
Ensembl chr10:56,290,780...56,300,077
JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr 6:10,912,383...11,014,279
Ensembl chr 6:10,912,383...11,014,278
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 co-stimulator ISO ClinVar Annotator: match by term: Common variable immunodeficiency 1
ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT
OMIM
ClinVar
PMID:11343122, PMID:12577056, PMID:15507387, PMID:19380800, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 1 ClinVar PMID:24140114 NCBI chr 1:266,050,634...266,059,277
Ensembl chr 1:266,053,002...266,059,256
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 ClinVar Annotator: match by term: Common variable immunodeficiency 10 OMIM
ClinVar
PMID:16303288, PMID:22013103, PMID:24033266, PMID:24140114, PMID:24702956, PMID:24888602, PMID:25237204, PMID:25524009, PMID:25605273, PMID:25741868, PMID:28472507, PMID:28492532, PMID:28778864, PMID:29225085, PMID:29921932, PMID:30941118 NCBI chr 1:266,050,634...266,059,277
Ensembl chr 1:266,053,002...266,059,256
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 ClinVar Annotator: match by OMIM:615767 ClinVar
OMIM
PMID:24746753 NCBI chr 2:123,965,021...123,972,356
Ensembl chr 2:123,965,021...123,972,356
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 ClinVar Annotator: match by term: Immunodeficiency, common variable, 12
ClinVar Annotator: match by term: NFKB1 DEFICIENCY
ClinVar
OMIM
PMID:11583829, PMID:16639407, PMID:25741868, PMID:26279205, PMID:29077208, PMID:29477724 NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
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 ClinVar Annotator: match by term: Immunodeficiency, common variable, 13 ClinVar
OMIM
PMID:21548011, PMID:25741868, PMID:26981933, PMID:27939403, PMID:28927821, PMID:31057532, PMID:31089937 NCBI chr14:91,782,281...91,867,828
Ensembl chr14:91,782,354...91,867,424
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 ClinVar Annotator: match by term: IMMUNODEFICIENCY, COMMON VARIABLE, 14 ClinVar
OMIM
PMID:27016798, PMID:28492532 NCBI chr19:59,497,021...59,502,298
Ensembl chr19:59,499,876...59,502,161
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 ClinVar Annotator: match by term: Common variable immunodeficiency 2 OMIM
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:18200502, PMID:18496551, PMID:18509552, PMID:18954329, PMID:18978466, PMID:18981294, PMID:19210517, PMID:19392801, PMID:19605846, PMID:19629655, PMID:19779048, PMID:20006554, PMID:20156508, PMID:20652909, 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:25569260, PMID:25741868, PMID:25959671, PMID:26046366, PMID:26100089, PMID:26122175, PMID:26727773, PMID:27123465, PMID:27577878, PMID:28492532, PMID:29077208, PMID:29114388, PMID:29146883, PMID:29531467, PMID:29555771, PMID:29867916, PMID:29921932, PMID:30290665, PMID:30311386 NCBI chr10:47,399,834...47,422,907
Ensembl chr10:47,412,582...47,420,951
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 ClinVar Annotator: match by term: Common variable immunodeficiency 3 OMIM
ClinVar
PMID:16672701, PMID:17882224, PMID:21159371, PMID:21330302, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:197,815,422...197,822,123
Ensembl chr 1:197,815,413...197,821,936
JBrowse link
Common Variable Immunodeficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
JBrowse link
G Ccdc134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:123,362,471...123,376,930
Ensembl chr 7:123,364,312...123,376,221
JBrowse link
G Cenpm centromere protein M ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:123,464,615...123,476,336
Ensembl chr 7:123,464,490...123,476,238
JBrowse link
G Csdc2 cold shock domain containing C2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:123,168,811...123,183,336
Ensembl chr 7:123,168,811...123,183,335
JBrowse link
G Desi1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:123,238,332...123,259,636
Ensembl chr 7:123,238,333...123,259,636
JBrowse link
G Mei1 meiotic double-stranded break formation protein 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:123,308,041...123,361,391
Ensembl chr 7:123,308,041...123,361,391
JBrowse link
G Mir33 microRNA 33 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:123,431,612...123,431,680
Ensembl chr 7:123,431,612...123,431,680
JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:123,563,047...123,572,074
Ensembl chr 7:123,563,059...123,572,082
JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:123,095,286...123,101,851
Ensembl chr 7:123,095,288...123,101,869
JBrowse link
G Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:123,183,504...123,193,874
Ensembl chr 7:123,183,506...123,193,761
JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:123,146,248...123,156,558
Ensembl chr 7:123,146,249...123,156,558
JBrowse link
G Rangap1 RAN GTPase activating protein 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:122,939,266...122,967,178
Ensembl chr 7:122,940,376...122,967,178
JBrowse link
G Septin3 septin 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:123,506,535...123,526,542
Ensembl chr 7:123,510,804...123,526,542
JBrowse link
G Shisa8 shisa family member 8 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:123,440,163...123,445,613
Ensembl chr 7:123,440,163...123,445,613
JBrowse link
G Snu13 small nuclear ribonucleoprotein 13 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:123,282,754...123,287,721
Ensembl chr 7:123,282,754...123,287,721
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
JBrowse link
G Tef TEF transcription factor, PAR bZIP family member ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:123,033,971...123,058,606
Ensembl chr 7:123,043,503...123,058,604
JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT
ClinVar Annotator: match by term: Common variable immunodeficiency 4
OMIM
ClinVar
PMID:19666484, PMID:21041452, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 7:123,453,799...123,456,289
Ensembl chr 7:123,453,788...123,456,268
JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:123,079,520...123,088,240
Ensembl chr 7:123,079,537...123,088,279
JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:123,531,657...123,548,574
Ensembl chr 7:123,531,682...123,548,081
JBrowse link
G Xrcc6 X-ray repair cross complementing 6 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:123,259,881...123,280,613
Ensembl chr 7:123,259,761...123,280,612
JBrowse link
G Zc3h7b zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr 7:122,978,999...123,027,166
Ensembl chr 7:122,979,021...123,027,150
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 ClinVar Annotator: match by term: Common variable immunodeficiency 5 OMIM
ClinVar
PMID:25741868 NCBI chr 1:227,429,241...227,441,492
Ensembl chr 1:227,429,596...227,441,442
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 ClinVar Annotator: match by term: Common variable immunodeficiency 6
ClinVar Annotator: match by term: IMMUNODEFICIENCY, COMMON VARIABLE, 6
OMIM
ClinVar
PMID:20237408, PMID:25741868 NCBI chr 1:216,237,663...216,253,460
Ensembl chr 1:216,237,697...216,253,311
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 ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar
OMIM
PMID:22035880, PMID:24033266, PMID:25741868, PMID:26325596, PMID:28492532, PMID:29867916 NCBI chr13:113,890,274...113,927,824
Ensembl chr13:113,890,272...113,927,877
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 ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity OMIM
ClinVar
PMID:22608502, PMID:24033266, PMID:25468195, PMID:25741868, PMID:25931386, PMID:26206937, PMID:26768763, PMID:27379089, PMID:28197149, PMID:28473463, PMID:28492532, PMID:29867916, PMID:30363934 NCBI chr 2:185,590,983...186,110,491
Ensembl chr 2:185,524,774...186,110,495
JBrowse link
G Mab21l2 mab-21 like 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity ClinVar PMID:28492532 NCBI chr 2:185,849,749...185,852,833
Ensembl chr 2:185,850,232...185,852,759
JBrowse link
cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO associated with hepatitis C;DNA:SNP: :3435C>T(human) RGD PMID:28453396 RGD:14700902 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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 chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
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 chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Ifnl3 interferon, lambda 3 susceptibility
severity
ISO associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) RGD PMID:24293567, PMID:24293567 RGD:11528546, RGD:11528546 NCBI chr 1:85,236,243...85,237,775
Ensembl chr 1:85,236,243...85,237,775
JBrowse link
G Tcn2 transcobalamin 2 ISO associated with Glomerulonephritis;protein:increased expression:serum: RGD PMID:3574578 RGD:11060121 NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:19860001 RGD:10450529 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tslp thymic stromal lymphopoietin ISS MouseDO NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
JBrowse link
cryoglobulinemic vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO associated with Chronic Hepatitis C; mRNA:increased expression:B cell RGD PMID:26219420 RGD:30296664 NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Tslp thymic stromal lymphopoietin ISO associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human) RGD PMID:25889007 RGD:38596329 NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
JBrowse link
cutaneous T cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754746 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr12:15,700,600...15,844,512
Ensembl chr12:15,700,825...15,844,512
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 chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ccl26 C-C motif chemokine ligand 26 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:20505746 RGD:11087556 NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO mRNA, protein:increased expression:skin RGD PMID:22048239 RGD:7483601 NCBI chr 1:53,063,380...53,087,519
Ensembl chr 1:53,065,025...53,087,474
JBrowse link
G Cd28 Cd28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916, PMID:26258847 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A disease_progression ISO DNA:deletion (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:26192916, PMID:20118908 RGD:8552306 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B disease_progression ISO DNA:deletion (human) RGD PMID:20118908 RGD:8552306 NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104
JBrowse link
G Ctcf CCCTC-binding factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr19:37,600,151...37,649,674
Ensembl chr19:37,600,148...37,649,673
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258847 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma RGD PMID:16428475 RGD:8655925 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il4 interleukin 4 ISO mRNA:increased expression:skin RGD PMID:7963654 RGD:7829823 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Irf4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754746 NCBI chr 2:197,786,212...197,788,992 JBrowse link
G Mir22 microRNA 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26244872 NCBI chr10:62,299,592...62,299,686
Ensembl chr10:62,299,592...62,299,686
JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 1:266,050,634...266,059,277
Ensembl chr 1:266,053,002...266,059,256
JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 3:156,727,642...156,758,307
Ensembl chr 3:156,727,642...156,758,307
JBrowse link
G Prkcq protein kinase C, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr17:70,971,915...71,105,286
Ensembl chr17:70,971,915...71,105,286
JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr10:88,686,207...88,712,313
Ensembl chr10:88,686,207...88,754,829
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 1:14,401,103...14,416,369
Ensembl chr 1:14,402,913...14,412,807
JBrowse link
G Tp53 tumor protein p53