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

RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


show annotations for term's descendants           Sort by:
 
acute leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 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 7:19,382,017...19,395,694
Ensembl chr 7:19,382,010...19,395,694
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, sub-family B (MDR/TAP), member 1A susceptibility ISO DNA:snps, haplotype:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:22674224, PMID:22674224 RGD:8657089 NCBI chr 5:8,567,091...8,748,575
Ensembl chr 5:8,660,077...8,748,575
JBrowse link
G Abcc2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 treatment ISO DNA:SNP:5'UTR:rs717620(human)
DNA:SNPs: :rs717620(human)
RGD PMID:24404132, PMID:25007187 RGD:11080959, RGD:11080979 NCBI chr19:43,782,308...43,838,332
Ensembl chr19:43,782,192...43,840,740
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group) disease_progression ISO mRNA:increased expression:mononuclear cell: RGD PMID:15521915, PMID:12100141 RGD:11081076, RGD:11081143 NCBI chr 6:58,584,491...58,692,451
Ensembl chr 6:58,584,523...58,695,676
JBrowse link
G Abl1 c-abl oncogene 1, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11984797, PMID:21898527 NCBI chr 2:31,688,244...31,807,093
Ensembl chr 2:31,688,376...31,804,227
JBrowse link
G Abo ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase, transferase B, alpha 1-3-galactosyltransferase) susceptibility ISO RGD PMID:17065136 RGD:11100012 NCBI chr 2:26,842,496...26,864,995
Ensembl chr 2:26,842,503...26,864,979
JBrowse link
G Aicda activation-induced cytidine deaminase treatment ISO RGD PMID:19759560 RGD:11039451 NCBI chr 6:122,553,809...122,564,180
Ensembl chr 6:122,553,801...122,564,180
JBrowse link
G Arid5b AT rich interactive domain 5B (MRF1-like) ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684603, PMID:19684604 NCBI chr10:68,092,523...68,279,355
Ensembl chr10:68,092,520...68,278,740
JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 3:95,434,367...95,497,240
Ensembl chr 3:95,434,388...95,497,240
JBrowse link
G Bax BCL2-associated X protein susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 7:45,461,695...45,466,903
Ensembl chr 7:45,461,697...45,466,898
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 severity ISO mRNA:increased expression:bone marrow (human) RGD PMID:25982455 RGD:11076595 NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
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 2:152,758,732...152,833,803
Ensembl chr 2:152,780,668...152,831,728
JBrowse link
G Bcr BCR activator of RhoGEF and GTPase susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr10:75,060,560...75,184,923
Ensembl chr10:75,060,592...75,184,921
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: therapeutic CTD PMID:22010212 NCBI chr 1:58,795,233...58,847,503
Ensembl chr 1:58,795,374...58,847,503
JBrowse link
G Cast calpastatin ISO protein:increased expresssion:B cell RGD PMID:11264179 RGD:5509822 NCBI chr13:74,692,366...74,808,874
Ensembl chr13:74,692,368...74,808,810
JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:bone marrow (human) RGD PMID:22391157 RGD:11352824 NCBI chr 7:144,929,931...144,939,831
Ensembl chr 7:144,929,931...144,939,925
JBrowse link
G Cd40lg CD40 ligand IMP RGD PMID:9292526 RGD:11352271 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G Cd46 CD46 antigen, complement regulatory protein ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:16353080 RGD:11352810 NCBI chr 1:195,038,971...195,098,784
Ensembl chr 1:195,036,826...195,092,249
JBrowse link
G Cd79b CD79B antigen ISO protein:decreased expression:bone marrow, mononuclear cell (human) RGD PMID:21487112 RGD:11250414 NCBI chr11:106,311,341...106,314,562
Ensembl chr11:106,311,341...106,314,762
JBrowse link
G Cd86 CD86 antigen severity ISO protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human) RGD PMID:24283754 RGD:11354967 NCBI chr16:36,568,956...36,666,158
Ensembl chr16:36,603,869...36,666,081
JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24736461 NCBI chr 5:3,341,004...3,531,008
Ensembl chr 5:3,341,485...3,531,008
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 4:89,274,473...89,294,619
Ensembl chr 4:89,274,471...89,294,653
JBrowse link
G Cebpe CCAAT/enhancer binding protein (C/EBP), epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684604 NCBI chr14:54,710,363...54,712,174
Ensembl chr14:54,710,360...54,712,174
JBrowse link
G Cfb complement factor B ISO DNA:missense mutation:p.R32Q b(human) RGD PMID:6958349 RGD:11041155 NCBI chr17:34,856,374...34,862,514
Ensembl chr17:34,856,374...34,862,518
JBrowse link
G Crebbp CREB binding protein disease_progression ISO DNA:mutations:multiple RGD PMID:25917266 RGD:11060149 NCBI chr16:4,081,334...4,213,957
Ensembl chr16:4,081,328...4,213,997
JBrowse link
G Crlf2 cytokine receptor-like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194 NCBI chr 5:109,554,709...109,559,128
Ensembl chr 5:109,554,709...109,558,993
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) treatment ISO RGD PMID:9250830 RGD:11039038 NCBI chr11:98,700,183...98,703,631
Ensembl chr11:98,701,263...98,703,629
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 severity ISO RGD PMID:8562939 RGD:734840 NCBI chr 9:56,865,104...56,899,870
Ensembl chr 9:56,865,033...56,899,870
JBrowse link
G Cyba cytochrome b-245, alpha polypeptide ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:19222940 RGD:11040545 NCBI chr 8:122,424,771...122,432,940
Ensembl chr 8:122,424,776...122,432,930
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 9:57,687,928...57,703,824
Ensembl chr 9:57,687,928...57,703,824
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 9:57,676,937...57,683,655
Ensembl chr 9:57,676,937...57,683,703
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr17:79,706,940...79,715,061
Ensembl chr17:79,701,537...79,715,061
JBrowse link
G Cyp2c29 cytochrome P450, family 2, subfamily c, polypeptide 29 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr19:39,287,044...39,330,713
Ensembl chr19:39,269,405...39,330,713
JBrowse link
G Cyp2d22 cytochrome P450, family 2, subfamily d, polypeptide 22 susceptibility ISO DNA:polymorphisms: :
DNA:SNP,deletion:splice junction,exon:1934G>A(human)
RGD PMID:11037802, PMID:19593802 RGD:11352820, RGD:11252111 NCBI chr15:82,370,527...82,380,260
Ensembl chr15:82,370,527...82,380,260
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11774269 NCBI chr 7:140,763,819...140,774,990
Ensembl chr 7:140,763,739...140,774,987
JBrowse link
G Cyp3a13 cytochrome P450, family 3, subfamily a, polypeptide 13 disease_progression
susceptibility
ISO DNA:polymorphism: : RGD PMID:19650988, PMID:22215203 RGD:11353796, RGD:11353805 NCBI chr 5:137,892,933...137,925,610
Ensembl chr 5:137,892,932...137,921,619
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 chr13:92,354,783...92,389,053
Ensembl chr13:92,354,726...92,389,053
JBrowse link
G Dnmt3a DNA methyltransferase 3A treatment ISO DNA:mutations:exon, intron:p.R882(human) RGD PMID:25242092 RGD:11041125 NCBI chr12:3,801,559...3,914,443
Ensembl chr12:3,806,007...3,914,443
JBrowse link
G Dntt deoxynucleotidyltransferase, terminal ISO protein:increased activity:peripheral blood,bone marrow: RGD PMID:7020399 RGD:8694149 NCBI chr19:41,029,275...41,059,525
Ensembl chr19:41,029,275...41,059,525
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 3:118,562,109...119,432,924
Ensembl chr 3:118,562,129...119,432,924
JBrowse link
G Duxbl1 double homeobox B-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776115 NCBI chr14:25,978,560...25,990,166
Ensembl chr14:26,257,962...26,269,436
Ensembl chr14:26,257,962...26,269,436
Ensembl chr14:26,257,962...26,269,436
JBrowse link
G Eng endoglin disease_progression ISO RGD PMID:17572488 RGD:11041565 NCBI chr 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
JBrowse link
G Ephx1 epoxide hydrolase 1, microsomal 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 chr 1:180,989,556...181,017,569
Ensembl chr 1:180,976,210...181,020,904
JBrowse link
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 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 7:19,344,067...19,356,524
Ensembl chr 7:19,344,778...19,356,524
JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 no_association ISO DNA:missense mutations: :p.D312N, p.K751Q (human)
DNA:haplotype
RGD PMID:19101034, PMID:21987080 RGD:11252192, RGD:11340201 NCBI chr 7:19,382,017...19,395,694
Ensembl chr 7:19,382,010...19,395,694
JBrowse link
G Erg ETS transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776115 NCBI chr16:95,359,169...95,586,600
Ensembl chr16:95,359,169...95,586,593
JBrowse link
G Etv6 ets variant 6 ISO ClinVar Annotator: match by term: Acute lymphoid leukemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17255265 NCBI chr 6:134,035,700...134,270,158
Ensembl chr 6:134,035,700...134,270,158
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit IEA OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr 6:47,530,274...47,595,270
Ensembl chr 6:47,530,139...47,595,341
JBrowse link
G F3 coagulation factor III ISO RGD PMID:8429686 RGD:11340211 NCBI chr 3:121,723,537...121,735,052
Ensembl chr 3:121,723,537...121,735,048
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) disease_progression ISO protein:increased expression:CD34+ bone marrow cell RGD PMID:10500800, PMID:9711907 RGD:11049148, RGD:11049157 NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Fga fibrinogen alpha chain ISO protein:increased expression:serum (human) RGD PMID:25317080 RGD:11040558 NCBI chr 3:83,026,153...83,033,627
Ensembl chr 3:83,026,076...83,033,627
JBrowse link
G Flt3 FMS-like 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 chr 5:147,330,741...147,400,489
Ensembl chr 5:147,330,741...147,400,489
JBrowse link
G Fpgs folylpolyglutamyl synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25013492 NCBI chr 2:32,682,609...32,704,196
Ensembl chr 2:32,682,609...32,704,145
JBrowse link
G Gfi1b growth factor independent 1B ISO mRNA:increased expression:blood: RGD PMID:19360458 RGD:11040460 NCBI chr 2:28,609,450...28,621,982
Ensembl chr 2:28,609,450...28,621,982
JBrowse link
G Gh growth hormone treatment ISO RGD PMID:2494952 RGD:11352727 NCBI chr11:106,300,261...106,303,703
Ensembl chr11:106,300,271...106,301,865
JBrowse link
G Gnb1 guanine nucleotide binding protein (G protein), 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 4:155,491,300...155,559,269
Ensembl chr 4:155,491,361...155,559,269
JBrowse link
G Gpi1 glucose-6-phosphate isomerase 1 ISO RGD PMID:6589021 RGD:11051848 NCBI chr 7:34,201,327...34,230,336
Ensembl chr 7:34,201,330...34,230,336
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO RGD PMID:17317918, PMID:24698347 RGD:11352774, RGD:11352812 NCBI chr 9:108,339,080...108,340,342
Ensembl chr 9:108,338,903...108,340,343
JBrowse link
G Gsr glutathione reductase ISO RGD PMID:24191316 RGD:11059506 NCBI chr 8:33,653,238...33,698,162
Ensembl chr 8:33,652,523...33,698,163
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 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
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 chr19:4,035,411...4,037,912
Ensembl chr19:4,035,407...4,037,985
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 disease_progression
susceptibility
ISO RGD PMID:10666194, PMID:14607752 RGD:10450829, RGD:10755410 NCBI chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
JBrowse link
G H1f2 H1.2 linker histone, cluster member susceptibility ISO DNA:SNP, haplotype:enhancer: (rs807212) (human) RGD PMID:19806355 RGD:10755490 NCBI chr13:23,738,807...23,739,531
Ensembl chr13:23,738,808...23,740,367
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha ISO DNA:polymorphisms, haplotype:cds:HLA-DQA1*01 (human) RGD PMID:9744491 RGD:11041762 NCBI chr17:34,282,744...34,287,823
Ensembl chr17:34,282,744...34,287,823
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphisms, haplotypes:cds:multiple
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human)
RGD PMID:22434102, PMID:9744491 RGD:11041749, RGD:11041762 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G Hck hemopoietic cell kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17344919 NCBI chr 2:153,108,468...153,151,441
Ensembl chr 2:153,108,468...153,151,441
JBrowse link
G Hdac1 histone deacetylase 1 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr 4:129,516,104...129,542,646
Ensembl chr 4:129,516,104...129,542,713
JBrowse link
G Hdac2 histone deacetylase 2 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr10:36,974,297...37,001,889
Ensembl chr10:36,974,544...37,001,889
JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO RGD PMID:23948281 RGD:9681454 NCBI chr 1:91,928,779...92,195,702
Ensembl chr 1:91,928,779...92,195,699
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 chr13:23,702,034...23,710,854
Ensembl chr13:23,702,034...23,710,854
JBrowse link
G Hk1 hexokinase 1 ISO protein:decreased activity:platelet RGD PMID:21921332 RGD:11353881 NCBI chr10:62,268,855...62,379,920
Ensembl chr10:62,268,855...62,379,908
JBrowse link
G Hlf hepatic leukemia factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr11:90,336,535...90,390,917
Ensembl chr11:90,336,536...90,390,895
JBrowse link
G Hoxd4 homeobox D4 ISO ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15776434 NCBI chr 2:74,721,978...74,729,160
Ensembl chr 2:74,711,929...74,729,160
JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 1:65,158,616...65,186,479
Ensembl chr 1:65,158,616...65,186,500
JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:SNP: :rs2069727(human) RGD PMID:21067287 RGD:10755691 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
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 chr11:11,684,962...11,772,930
Ensembl chr11:11,685,003...11,772,926
JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr 1:69,531,207...69,687,351
Ensembl chr 1:69,531,214...69,687,245
JBrowse link
G Ikzf3 IKAROS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr11:98,464,610...98,546,031
Ensembl chr11:98,464,902...98,546,031
JBrowse link
G Il10 interleukin 10 treatment ISO protein:decreased expression:blood RGD PMID:21653647, PMID:15860861 RGD:11049158, RGD:11049169 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Irf4 interferon regulatory factor 4 ISO DNA:SNP:intron:rs12203592 (human) RGD PMID:19897031 RGD:11526162 NCBI chr13:30,749,233...30,766,981
Ensembl chr13:30,749,226...30,766,976
JBrowse link
G Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase) 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 2:130,664,692...130,681,614
Ensembl chr 2:130,667,610...130,681,614
JBrowse link
G Kdm2b lysine (K)-specific demethylase 2B ISO mRNA:increased expression:bone marrow (human) RGD PMID:21310926 RGD:9588255 NCBI chr 5:122,870,664...122,989,270
Ensembl chr 5:122,870,665...122,989,823
JBrowse link
G Kdm3b KDM3B lysine (K)-specific demethylase 3B ISO protein:increased expression:bone marrow, mononuclear cell (human) RGD PMID:22615488 RGD:9586728 NCBI chr18:34,777,008...34,839,370
Ensembl chr18:34,777,047...34,838,660
JBrowse link
G Kdm6a lysine (K)-specific demethylase 6A severity ISO DNA:mutations:cds:multiple (human) RGD PMID:22377896 RGD:9684944 NCBI chr  X:18,160,862...18,279,936
Ensembl chr  X:18,162,575...18,279,936
JBrowse link
G Kmt2a lysine (K)-specific methyltransferase 2A IEA
ISO
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545
CTD Direct Evidence: marker/mechanism
MouseDO
CTD
PMID:24736461, PMID:25730765 NCBI chr 9:44,803,355...44,881,352
Ensembl chr 9:44,803,355...44,881,296
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog disease_progression ISO RGD PMID:17910045, PMID:25917266 RGD:11060148, RGD:11060149 NCBI chr 6:145,216,699...145,250,420
Ensembl chr 6:145,216,699...145,250,239
JBrowse link
G Lmo2 LIM domain only 2 IEA OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr 2:103,957,903...103,981,878
Ensembl chr 2:103,957,986...103,981,878
JBrowse link
G Mefv Mediterranean fever susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M680I(human) RGD PMID:22942567 RGD:11531121 NCBI chr16:3,706,974...3,718,211
Ensembl chr16:3,707,218...3,718,097
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 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
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 chr13:12,181,331...12,258,199
Ensembl chr13:12,182,712...12,258,113
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 chr13:68,560,780...68,582,169
Ensembl chr13:68,560,780...68,582,149
JBrowse link
G Myc myelocytomatosis oncogene disease_progression ISO RGD PMID:25784651 RGD:11532748 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
JBrowse link
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) 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 chr 8:67,494,875...67,502,644
Ensembl chr 8:67,494,858...67,502,584
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 4:15,957,587...15,992,589
Ensembl chr 4:15,957,925...15,992,589
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell 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 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Notch3 notch 3 IEA OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr17:32,120,820...32,166,896
Ensembl chr17:32,120,820...32,166,852
JBrowse link
G Nqo1 NAD(P)H dehydrogenase, quinone 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 chr 8:107,388,225...107,403,205
Ensembl chr 8:107,388,225...107,403,206
JBrowse link
G Nras neuroblastoma ras oncogene disease_progression ISO DNA:missense mutation:cds: RGD PMID:25204082 RGD:11535045 NCBI chr 3:103,058,285...103,067,914
Ensembl chr 3:103,058,285...103,067,914
JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:24076604 NCBI chr 5:33,820,676...33,897,966
Ensembl chr 5:33,820,725...33,897,975
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO CTD Direct Evidence: marker/mechanism CTD PMID:23377183 NCBI chr19:46,885,390...47,015,174
Ensembl chr19:46,883,317...47,015,153
JBrowse link
G Nup214 nucleoporin 214 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 2:31,974,408...32,053,975
Ensembl chr 2:31,974,436...32,053,975
JBrowse link
G Pag1 phosphoprotein associated with glycosphingolipid microdomains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr 3:9,687,479...9,833,684
Ensembl chr 3:9,687,479...9,833,679
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 4:44,524,748...44,710,694
Ensembl chr 4:44,524,757...44,710,487
JBrowse link
G Pms2 PMS1 homolog2, mismatch repair system component ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:15887099, PMID:18602922, PMID:20205264, PMID:22120844, PMID:22577899, PMID:23012243, PMID:23652311, PMID:24033266, PMID:24362816, PMID:24728189, PMID:24728327, PMID:25512458, PMID:25741868, PMID:25856668, PMID:25980754, PMID:26116798, PMID:26318770, PMID:26467025, PMID:26681312, PMID:27017610, PMID:27037742, PMID:28492532, PMID:28562508, PMID:30155321 NCBI chr 5:143,909,901...143,972,745
Ensembl chr 5:143,909,964...143,933,968
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 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Pramex1 PRAME like, X-linked 1 severity ISO mRNA:increased expression:blood (human) RGD PMID:27275197 RGD:11535025 NCBI chr  X:135,612,954...135,627,705
Ensembl chr  X:135,613,002...135,627,705
JBrowse link
G Prdm14 PR domain containing 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043588 NCBI chr 1:13,113,428...13,127,163
Ensembl chr 1:13,113,457...13,127,163
JBrowse link
G Pten phosphatase and tensin homolog IEA OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
G Runx1 runt related transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr16:92,601,466...92,826,074
Ensembl chr16:92,601,466...92,826,149
JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr10:77,032,269...77,050,432
Ensembl chr10:77,032,241...77,061,002
JBrowse link
G Snrpe small nuclear ribonucleoprotein E severity ISO mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) RGD PMID:23915977 RGD:10768836 NCBI chr 1:133,603,871...133,610,280
Ensembl chr 1:133,603,871...133,610,291
JBrowse link
G Tal1 T cell acute lymphocytic leukemia 1 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 4:115,056,426...115,071,755
Ensembl chr 4:115,056,426...115,071,755
JBrowse link
G Tal2 T cell acute lymphocytic leukemia 2 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 4:53,779,701...53,788,712
Ensembl chr 4:53,779,705...53,788,712
JBrowse link
G Tas2r103 taste receptor, type 2, member 103 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194 NCBI chr 6:133,036,163...133,037,101
Ensembl chr 6:133,036,163...133,037,101
JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr10:80,409,541...80,433,976
Ensembl chr10:80,409,514...80,433,647
JBrowse link
G Tcn2 transcobalamin 2 ISO protein:altered activity:plasma: RGD PMID:8754152 RGD:11059889 NCBI chr11:3,917,077...3,932,078
Ensembl chr11:3,917,192...3,932,159
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 chr13:73,626,911...73,649,843
Ensembl chr13:73,626,911...73,649,843
JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO mRNA:increased expression:bone marrow, mononuclear cells (human) RGD PMID:12730115 RGD:2317244 NCBI chr14:122,107,082...122,159,603
Ensembl chr14:122,107,038...122,159,604
JBrowse link
G Tpmt thiopurine 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 chr13:47,021,987...47,043,338
Ensembl chr13:47,022,482...47,044,737
JBrowse link
G Trp53 transformation related protein 53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Tyms thymidylate synthase treatment ISO DNA:repeats: : rs347430033(human) RGD PMID:25007187 RGD:11080979 NCBI chr 5:30,038,546...30,073,645
Ensembl chr 5:30,058,202...30,073,617
JBrowse link
G Vpreb1 pre-B lymphocyte gene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr16:16,868,401...16,869,255
Ensembl chr16:16,868,403...16,870,843
JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 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 7:24,546,699...24,573,438
Ensembl chr 7:24,546,289...24,573,440
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 c-abl 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 2:31,688,244...31,807,093
Ensembl chr 2:31,688,376...31,804,227
JBrowse link
G Crlf2 cytokine receptor-like factor 2 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:19907440, PMID:19965641, PMID:20018760, PMID:22368272 NCBI chr 5:109,554,709...109,559,128
Ensembl chr 5:109,554,709...109,558,993
JBrowse link
G Cyp2b10 cytochrome P450, family 2, subfamily b, polypeptide 10 susceptibility ISO DNA:polymorphism:G15631T RGD PMID:19144407 RGD:6480472 NCBI chr 7:25,897,658...25,926,624
Ensembl chr 7:25,897,620...25,926,624
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 chr 8:25,518,759...25,575,718
Ensembl chr 8:25,513,654...25,575,718
JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:22897847, PMID:22955920 NCBI chr15:9,506,159...9,529,941
Ensembl chr15:9,505,788...9,530,176
JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:18805579, PMID:19470474, PMID:20585391, PMID:22368270, PMID:22955920 NCBI chr19:29,321,354...29,325,318
Ensembl chr19:29,321,344...29,325,356
JBrowse link
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:16239216, PMID:19139102, PMID:19470474, PMID:19838194, PMID:20167706, PMID:21436584, PMID:21680795, PMID:22955920, PMID:25356970 NCBI chr 4:101,151,974...101,265,282
Ensembl chr 4:101,152,367...101,265,282
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 chr19:29,251,803...29,313,095
Ensembl chr19:29,251,828...29,313,080
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:10982185, PMID:16843266, PMID:18270328, PMID:20132407, PMID:20372971, PMID:21599579, PMID:21821710, PMID:24728327, PMID:25157968, PMID:28492532 NCBI chr 8:71,676,383...71,690,577
Ensembl chr 8:71,676,296...71,690,575
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
IEA
ClinVar Annotator: match by term: Severe combined immunodeficiency due to ADA deficiency
OMIM:102700
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
MouseDO
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 2:163,726,571...163,750,239
Ensembl chr 2:163,726,584...163,750,239
JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410, PMID:10521296, PMID:11186938, PMID:11447480, PMID:15358028, PMID:16858239, PMID:17125710, PMID:18029407, PMID:19880069, PMID:20031618, PMID:22857948, PMID:23233322, PMID:23283745, PMID:24033266, PMID:24093860, PMID:24111713, PMID:24793961, PMID:25031304, PMID:25351510, PMID:25637381, PMID:25741868, PMID:26743238, PMID:26969327, PMID:27247418, PMID:27532257, PMID:27737317, PMID:27831900, PMID:28138913, PMID:28420666, PMID:28492532, PMID:28615295, PMID:28790153 NCBI chr14:54,970,684...54,994,626
Ensembl chr14:54,970,684...54,994,626
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:11133745, PMID:21664875, PMID:24290284, PMID:24406074, PMID:26476733, PMID:26596586, PMID:28492532, PMID:30290665 NCBI chr 2:101,638,252...101,649,532
Ensembl chr 2:101,638,282...101,649,501
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 chr11:117,849,237...117,855,743
Ensembl chr11:117,849,251...117,855,743
JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18688853 NCBI chr13:38,345,716...38,500,314
Ensembl chr13:38,345,107...38,500,302
JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 5:140,872,999...141,000,596
Ensembl chr 5:140,872,990...141,000,582
JBrowse link
G Ccr4 chemokine (C-C motif) receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:114,490,316...114,505,476
Ensembl chr 9:114,490,316...114,504,916
JBrowse link
G Ccr7 chemokine (C-C motif) receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr11:99,144,199...99,155,077
Ensembl chr11:99,144,196...99,155,077
JBrowse link
G Cd28 CD28 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 1:60,746,388...60,773,359
Ensembl chr 1:60,716,800...60,773,359
JBrowse link
G Cd80 CD80 antigen ISO RGD PMID:10590132 RGD:6902938 NCBI chr16:38,457,430...38,495,958
Ensembl chr16:38,455,561...38,496,335
JBrowse link
G Cd86 CD86 antigen ISO RGD PMID:10590132 RGD:6902938 NCBI chr16:36,568,956...36,666,158
Ensembl chr16:36,603,869...36,666,081
JBrowse link
G Csnk1a1 casein kinase 1, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr18:61,554,236...61,590,320
Ensembl chr18:61,555,274...61,590,061
JBrowse link
G Csnk2a1 casein kinase 2, alpha 1 polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 2:152,226,535...152,281,856
Ensembl chr 2:152,226,839...152,281,852
JBrowse link
G Csnk2b casein kinase 2, beta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr17:35,116,195...35,122,053
Ensembl chr17:35,116,196...35,122,053
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 1:60,909,025...60,915,832
Ensembl chr 1:60,887,000...60,915,832
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) 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 chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
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:7,579,676...7,595,243
Ensembl chr  X:7,573,644...7,595,245
JBrowse link
G Fyn Fyn proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr10:39,369,743...39,565,381
Ensembl chr10:39,368,855...39,565,381
JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 2:9,857,078...9,887,953
Ensembl chr 2:9,857,078...9,890,034
JBrowse link
G Gpr183 G protein-coupled receptor 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr14:121,952,331...121,965,193
Ensembl chr14:121,952,551...121,965,195
JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 6:51,460,434...51,470,048
Ensembl chr 6:51,460,932...51,469,894
JBrowse link
G Icos inducible T cell co-stimulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 1:60,960,773...61,000,322
Ensembl chr 1:60,977,927...61,000,320
JBrowse link
G Ifng interferon gamma treatment IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:23962110, PMID:8800741 RGD:10755707 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 1:69,531,207...69,687,351
Ensembl chr 1:69,531,214...69,687,245
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110, PMID:8704212 RGD:11049460 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr11:53,612,460...53,618,665
Ensembl chr11:53,602,982...53,618,669
JBrowse link
G Il5 interleukin 5 disease_progression ISO protein:increased expression:serum RGD PMID:16425276 RGD:11354942 NCBI chr11:53,720,794...53,725,103
Ensembl chr11:53,720,794...53,725,106
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum (human) RGD PMID:10374863 RGD:11060275 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Irf4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr13:30,749,233...30,766,981
Ensembl chr13:30,749,226...30,766,976
JBrowse link
G Jak3 Janus kinase 3 ISO DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) RGD PMID:21821710 RGD:11531131 NCBI chr 8:71,676,383...71,690,577
Ensembl chr 8:71,676,296...71,690,575
JBrowse link
G Myb myeloblastosis oncogene disease_progression ISO mRNA:splice variants:CD4+ T cell: RGD PMID:27307595 RGD:11532670 NCBI chr10:21,124,930...21,160,984
Ensembl chr10:21,124,935...21,160,984
JBrowse link
G Notch1 notch 1 ISO DNA:mutations:multiple (human) RGD PMID:16707600 RGD:1580759 NCBI chr 2:26,457,902...26,503,822
Ensembl chr 2:26,457,903...26,516,663
JBrowse link
G Nras neuroblastoma ras oncogene disease_progression IMP RGD PMID:21586752 RGD:11535055 NCBI chr 3:103,058,285...103,067,914
Ensembl chr 3:103,058,285...103,067,914
JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 2:160,731,310...160,775,760
Ensembl chr 2:160,731,300...160,775,760
JBrowse link
G Prkcb protein kinase C, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 7:122,289,104...122,634,402
Ensembl chr 7:122,288,751...122,634,402
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24090995 NCBI chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540
JBrowse link
G Tal2 T cell acute lymphocytic leukemia 2 ISO RGD PMID:1763056 RGD:1599285 NCBI chr 4:53,779,701...53,788,712
Ensembl chr 4:53,779,705...53,788,712
JBrowse link
G Terf2 telomeric repeat binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643074 NCBI chr 8:107,069,400...107,096,548
Ensembl chr 8:107,069,400...107,096,547
JBrowse link
G Tlx1 T cell leukemia, homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1717256 NCBI chr19:45,150,092...45,156,943
Ensembl chr19:45,150,680...45,156,943
JBrowse link
G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 4:63,831,202...63,861,508
Ensembl chr 4:63,831,308...63,861,347
JBrowse link
G Trp53 transformation related protein 53 ISO GAD PMID:15118671 RGD:1331525 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Trp73 transformation related protein 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 4:154,056,249...154,139,875
Ensembl chr 4:154,056,253...154,140,208
Ensembl chr 4:154,056,253...154,140,208
JBrowse link
G Vav1 vav 1 oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr17:57,279,100...57,329,236
Ensembl chr17:57,279,100...57,328,031
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 chr19:40,928,927...40,994,221
Ensembl chr19:40,928,927...40,994,535
JBrowse link
G Btk Bruton agammaglobulinemia 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:134,542,334...134,583,628
Ensembl chr  X:134,542,336...134,583,570
JBrowse link
G Cd19 CD19 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 7:126,408,448...126,415,148
Ensembl chr 7:126,408,450...126,414,889
JBrowse link
G Cd79a CD79A antigen (immunoglobulin-associated alpha) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:24,897,497...24,901,858
Ensembl chr 7:24,897,381...24,902,197
JBrowse link
G Cd79b CD79B antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:106,311,341...106,314,562
Ensembl chr11:106,311,341...106,314,762
JBrowse link
G Ighm immunoglobulin heavy constant mu ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:113,418,826...113,422,730
Ensembl chr12:113,418,558...113,422,730
JBrowse link
G Lrrc8a leucine rich repeat containing 8A VRAC subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660746 RGD:1599837 NCBI chr 2:30,237,769...30,263,790
Ensembl chr 2:30,237,715...30,263,790
Ensembl chr 2:30,237,715...30,263,790
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 chr13:101,680,761...101,768,217
Ensembl chr13:101,680,563...101,768,217
JBrowse link
G Sec61a1 Sec61 alpha 1 subunit (S. cerevisiae) ISO ClinVar Annotator: match by term: Hypogammaglobulinemia ClinVar PMID:25741868, PMID:28782633 NCBI chr 6:88,503,607...88,518,800
Ensembl chr 6:88,503,579...88,518,905
JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:80,409,541...80,433,976
Ensembl chr10:80,409,514...80,433,647
JBrowse link
Agammaglobulinemia 1, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ighm immunoglobulin heavy constant mu ISO OMIM NCBI chr12:113,418,826...113,422,730
Ensembl chr12:113,418,558...113,422,730
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 antigen (immunoglobulin-associated alpha) ISO ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive OMIM
ClinVar
PMID:10525050, PMID:11920841, PMID:24728327, PMID:28492532 NCBI chr 7:24,897,497...24,901,858
Ensembl chr 7:24,897,381...24,902,197
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 chr19:40,928,927...40,994,221
Ensembl chr19:40,928,927...40,994,535
JBrowse link
G Zfp518a zinc finger protein 518A ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr19:40,894,031...40,917,947
Ensembl chr19:40,894,705...40,917,947
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 8A VRAC subunit A ISO ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant OMIM
ClinVar
PMID:14660746, PMID:28492532 NCBI chr 2:30,237,769...30,263,790
Ensembl chr 2:30,237,715...30,263,790
Ensembl chr 2:30,237,715...30,263,790
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 antigen 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 chr11:106,311,341...106,314,562
Ensembl chr11:106,311,341...106,314,762
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 chr13:101,680,761...101,768,217
Ensembl chr13:101,680,563...101,768,217
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 chr10:80,409,541...80,433,976
Ensembl chr10:80,409,514...80,433,647
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 agammaglobulinemia 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:134,542,334...134,583,628
Ensembl chr  X:134,542,336...134,583,570
JBrowse link
G Cd79a CD79A antigen (immunoglobulin-associated alpha) ISO ClinVar Annotator: match by term: Agammaglobulinemia, non-Bruton type ClinVar PMID:25741868 NCBI chr 7:24,897,497...24,901,858
Ensembl chr 7:24,897,381...24,902,197
JBrowse link
G Ighm immunoglobulin heavy constant mu ISO ClinVar Annotator: match by term: Agammaglobulinemia, non-Bruton type ClinVar PMID:2115996, PMID:8890099, PMID:12370281 NCBI chr12:113,418,826...113,422,730
Ensembl chr12:113,418,558...113,422,730
JBrowse link
anaplastic large cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk anaplastic lymphoma 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 chr17:71,868,988...72,604,702
Ensembl chr17:71,868,972...72,604,627
JBrowse link
G Hsp90aa1 heat shock protein 90, alpha (cytosolic), class A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157164 NCBI chr12:110,691,036...110,696,395
Ensembl chr12:110,690,605...110,702,728
JBrowse link
G Irf4 interferon regulatory factor 4 ISO DNA:translocation RGD PMID:18987657 RGD:11526155 NCBI chr13:30,749,233...30,766,981
Ensembl chr13:30,749,226...30,766,976
JBrowse link
G Junb jun B proto-oncogene ISO RGD PMID:12145210 RGD:1549449 NCBI chr 8:84,976,909...84,978,748
Ensembl chr 8:84,974,484...84,978,718
Ensembl chr 8:84,974,484...84,978,718
JBrowse link
G Npm1 nucleophosmin 1 ISO RGD PMID:15659732 RGD:1600902 NCBI chr11:33,152,498...33,164,142
Ensembl chr11:33,152,287...33,163,206
JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261581 NCBI chr19:5,637,442...5,648,134
Ensembl chr19:5,637,483...5,648,130
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540
JBrowse link
G Tnfrsf8 tumor necrosis factor receptor superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10908157, PMID:17261581 NCBI chr 4:145,267,132...145,315,164
Ensembl chr 4:145,267,137...145,315,164
JBrowse link
G Twist1 twist basic helix-loop-helix transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr12:33,957,671...33,959,831
Ensembl chr12:33,957,671...33,959,829
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, aorta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr19:34,240,336...34,255,585
Ensembl chr19:34,241,090...34,255,590
JBrowse link
G Ankrd22 ankyrin repeat domain 22 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr19:34,122,549...34,166,041
Ensembl chr19:34,121,469...34,166,053
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:58,795,233...58,847,503
Ensembl chr 1:58,795,374...58,847,503
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr19:34,473,783...34,475,148
Ensembl chr19:34,473,778...34,475,164
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) ISO
IEA
IMP
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome
OMIM:601859
DNA:mutations:cds:555C>T,889A>G(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:601859
OMIM
ClinVar
MouseDO
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 chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Fasl Fas ligand (TNF superfamily, member 6) ISO
IEA
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
MouseDO
OMIM
PMID:17605793, PMID:25741868, PMID:28492532 NCBI chr 1:161,780,691...161,788,495
Ensembl chr 1:161,780,689...161,788,495
JBrowse link
G Ifit2 interferon-induced protein with tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr19:34,550,550...34,576,534
Ensembl chr19:34,550,694...34,576,419
JBrowse link
G Ifit3 interferon-induced protein with tetratricopeptide repeats 3 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr19:34,583,119...34,588,982
Ensembl chr19:34,583,531...34,588,731
JBrowse link
G Lipa lysosomal acid lipase A ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr19:34,492,316...34,527,474
Ensembl chr19:34,492,318...34,527,474
JBrowse link
G Lipm lipase, family member M ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr19:34,100,943...34,122,687
Ensembl chr19:34,100,933...34,122,687
JBrowse link
G Lipn lipase, family member N ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr19:34,067,058...34,085,946
Ensembl chr19:34,067,358...34,084,918
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression IMP RGD PMID:21376533 RGD:13204846 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Nras neuroblastoma ras oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chr 3:103,058,285...103,067,914
Ensembl chr 3:103,058,285...103,067,914
JBrowse link
G Stambpl1 STAM binding protein like 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr19:34,190,378...34,240,333
Ensembl chr19:34,192,229...34,240,333
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
IEA
ClinVar Annotator: match by term: Caspase-8 deficiency
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
OMIM:607271
ClinVar
MouseDO
OMIM
PMID:12353035, PMID:15601643, PMID:15998955, PMID:17293864, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30267714 NCBI chr 1:58,795,233...58,847,503
Ensembl chr 1:58,795,374...58,847,503
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 chr14:30,595,353...30,626,414
Ensembl chr14:30,595,354...30,626,210
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 Kirsten rat sarcoma viral oncogene homolog 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 6:145,216,699...145,250,420
Ensembl chr 6:145,216,699...145,250,239
JBrowse link
G Nras neuroblastoma ras oncogene 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 3:103,058,285...103,067,914
Ensembl chr 3:103,058,285...103,067,914
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 (TNF receptor superfamily member 6) 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 chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fasl Fas ligand (TNF superfamily, member 6) ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1b ClinVar PMID:8787672, PMID:25741868 NCBI chr 1:161,780,691...161,788,495
Ensembl chr 1:161,780,689...161,788,495
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 antigen ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V ClinVar PMID:28492532, PMID:29729943, PMID:30326257 NCBI chr 1:60,746,388...60,773,359
Ensembl chr 1:60,716,800...60,773,359
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 1:60,909,025...60,915,832
Ensembl chr 1:60,887,000...60,915,832
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 1:60,960,773...61,000,322
Ensembl chr 1:60,977,927...61,000,320
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 1:60,471,180...60,567,074
Ensembl chr 1:60,482,292...60,567,104
JBrowse link
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11a tumor necrosis factor receptor superfamily, member 11a, NFKB activator 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 chr 1:105,780,673...105,849,444
Ensembl chr 1:105,780,718...105,847,981
JBrowse link
B-Cell Chronic Lymphocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group) susceptibility ISO DNA:SNPs,haplotype: :rs1481012,rs2231142(human) RGD PMID:21918980 RGD:11080977 NCBI chr 6:58,584,491...58,692,451
Ensembl chr 6:58,584,523...58,695,676
JBrowse link
G Acoxl acyl-Coenzyme A oxidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 2:127,838,797...128,126,252
Ensembl chr 2:127,838,876...128,123,873
JBrowse link
G Aicda activation-induced cytidine deaminase disease_progression ISO RGD PMID:21133730 RGD:11039455 NCBI chr 6:122,553,809...122,564,180
Ensembl chr 6:122,553,801...122,564,180
JBrowse link
G Apoe apolipoprotein E disease_progression ISO RGD PMID:18784741 RGD:11040549 NCBI chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
G Atm ataxia telangiectasia mutated ISO CTD Direct Evidence: marker/mechanism CTD PMID:17968022 NCBI chr 9:53,437,122...53,536,828
Ensembl chr 9:53,439,149...53,536,740
JBrowse link
G Bcl11a B cell CLL/lymphoma 11A (zinc finger protein) ISO DNA:translocation:5' utr: (human) RGD PMID:11719382 RGD:11100004 NCBI chr11:24,076,564...24,173,558
Ensembl chr11:24,078,056...24,174,123
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 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 chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
JBrowse link
G Bmf BCL2 modifying factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 2:118,528,757...118,549,686
Ensembl chr 2:118,528,757...118,549,687
JBrowse link
G Braf Braf transforming gene 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 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
G Btk Bruton agammaglobulinemia 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:134,542,334...134,583,628
Ensembl chr  X:134,542,336...134,583,570
JBrowse link
G Cbl Casitas B-lineage lymphoma 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 9:44,142,976...44,234,259
Ensembl chr 9:44,142,976...44,234,049
JBrowse link
G Ccdc50 coiled-coil domain containing 50 ISO RGD PMID:19641524 RGD:9685139 NCBI chr16:27,387,065...27,452,218
Ensembl chr16:27,388,869...27,452,218
JBrowse link
G Cd40 CD40 antigen ISO RGD PMID:20616215 RGD:5490532 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948
JBrowse link
G Cd40lg CD40 ligand IMP mouse-human chimeric gene in human RGD PMID:20882050 RGD:11352235 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G Cd5 CD5 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr19:10,718,107...10,739,026
Ensembl chr19:10,717,116...10,739,002
JBrowse link
G Cd79b CD79B antigen ISO protein:decreased expression:B lymphocyte, cell surface (human) RGD PMID:9269755 RGD:11250403 NCBI chr11:106,311,341...106,314,562
Ensembl chr11:106,311,341...106,314,762
JBrowse link
G Cd86 CD86 antigen severity ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25179679 RGD:11354969 NCBI chr16:36,568,956...36,666,158
Ensembl chr16:36,603,869...36,666,081
JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr 7:81,347,026...81,458,001
Ensembl chr 7:81,347,026...81,455,465
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 1:60,909,025...60,915,832
Ensembl chr 1:60,887,000...60,915,832
JBrowse link
G Dkc1 dyskeratosis congenita 1, dyskerin ISO RGD PMID:18077792 RGD:11251735 NCBI chr  X:75,095,854...75,109,776
Ensembl chr  X:75,095,854...75,109,777
JBrowse link
G Dnmt3b DNA methyltransferase 3B ISO mRNA:decreased expression: B cell RGD PMID:15467427 RGD:9589146 NCBI chr 2:153,649,411...153,687,730
Ensembl chr 2:153,649,450...153,687,730
JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 severity ISO DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:22739018, PMID:19484764 RGD:11252203, RGD:11252204 NCBI chr 7:19,382,017...19,395,694
Ensembl chr 7:19,382,010...19,395,694
JBrowse link
G Farp2 FERM, RhoGEF and pleckstrin domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr 1:93,512,104...93,621,976
Ensembl chr 1:93,512,079...93,621,976
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) disease_progression ISO RGD PMID:12901972 RGD:11049461 NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Fbxw7 F-box and WD-40 domain protein 7 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:25741868, PMID:26619011 NCBI chr 3:84,814,990...84,979,198
Ensembl chr 3:84,815,268...84,979,198
JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV no_association ISO DNA:SNP:exon:p.F158V (rs396991) (human) RGD PMID:14563637 RGD:11352260 NCBI chr 1:171,018,926...171,029,761
Ensembl chr 1:171,018,920...171,029,761
JBrowse link
G Gm14548 predicted gene 14548 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 7:3,884,201...3,898,159
Ensembl chr 7:3,884,242...3,898,120
JBrowse link
G Gnas GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus disease_progression ISO DNA:polymorphism:393T>C (human) RGD PMID:17020971 RGD:1601379 NCBI chr 2:174,284,320...174,346,744
Ensembl chr 2:174,284,320...174,346,744
JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:12835555, PMID:16329078, PMID:16372351, PMID:16835863, PMID:17211612, PMID:17384584, PMID:18042262, PMID:19213030, PMID:19255327, PMID:19773371, PMID:20859122, PMID:21438134, PMID:21495179, PMID:21850009, PMID:22256804, PMID:22499344, PMID:22683711, PMID:22726224, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29493581, PMID:168335863 NCBI chr 7:141,189,934...141,194,019
Ensembl chr 7:141,189,105...141,194,005
JBrowse link
G Icam1 intercellular adhesion molecule 1 severity ISO RGD PMID:7658704 RGD:11354983 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:polymorphism: :847A>T(human) RGD PMID:19757192 RGD:10755703 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
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 chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 1:130,932,656...130,945,457
Ensembl chr 1:130,932,656...130,940,115
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:19074885 RGD:11051968 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
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 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:plasma: RGD PMID:10870116 RGD:11522755 NCBI chr 2:24,336,860...24,351,491
Ensembl chr 2:24,336,853...24,351,494
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 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
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 chr13:30,749,233...30,766,981
Ensembl chr13:30,749,226...30,766,976
JBrowse link
G Itga4 integrin alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21093051 NCBI chr 2:79,255,426...79,333,114
Ensembl chr 2:79,255,426...79,333,123
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog 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 6:145,216,699...145,250,420
Ensembl chr 6:145,216,699...145,250,239
JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 3:131,110,297...131,224,357
Ensembl chr 3:131,110,471...131,224,356
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:12835555, PMID:16329078, PMID:16372351, PMID:16835863, PMID:17211612, PMID:17384584, PMID:18042262, PMID:19213030, PMID:19255327, PMID:19773371, PMID:20859122, PMID:21438134, PMID:21495179, PMID:21850009, PMID:22256804, PMID:22499344, PMID:22683711, PMID:22726224, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29493581, PMID:168335863 NCBI chr 7:141,194,111...141,210,055
Ensembl chr 7:141,194,157...141,210,055
JBrowse link
G Mir143 microRNA 143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:61,649,196...61,649,258
Ensembl chr18:61,649,196...61,649,258
JBrowse link
G Mir145a microRNA 145a ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:61,647,825...61,647,894
Ensembl chr18:61,647,825...61,647,894
JBrowse link
G Ms4a1 membrane-spanning 4-domains, subfamily A, member 1 ISO RGD PMID:19911856 RGD:2316994 NCBI chr19:11,249,679...11,266,149
Ensembl chr19:11,249,675...11,266,241
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16706930 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Nras neuroblastoma ras oncogene 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 3:103,058,285...103,067,914
Ensembl chr 3:103,058,285...103,067,914
JBrowse link
G P2rx7 purinergic receptor P2X, ligand-gated ion channel, 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11003599 NCBI chr 5:122,643,927...122,692,336
Ensembl chr 5:122,643,911...122,691,432
JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 severity ISO protein:increased expression:B cell (human) RGD PMID:12673718 RGD:11541127 NCBI chr11:106,654,213...106,715,281
Ensembl chr11:106,654,217...106,750,628
JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27542411 NCBI chr 8:117,498,275...117,635,142
Ensembl chr 8:117,498,291...117,635,142
JBrowse link
G Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr18:66,458,604...66,465,558
Ensembl chr18:66,458,533...66,465,565
JBrowse link
G Polb polymerase (DNA directed), beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 8:22,628,119...22,653,464
Ensembl chr 8:22,628,126...22,653,435
JBrowse link
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr12:110,447,144...110,583,075
Ensembl chr12:110,447,120...110,583,062
JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO protein:increased expression:mononuclear cell (human) RGD PMID:16620968 RGD:11535021 NCBI chr  X:135,612,954...135,627,705
Ensembl chr  X:135,613,002...135,627,705
JBrowse link
G Prkd2 protein kinase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr 7:16,842,902...16,870,461
Ensembl chr 7:16,842,902...16,870,464
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16314473 NCBI chr 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
JBrowse link
G Qpct glutaminyl-peptide cyclotransferase (glutaminyl cyclase) ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr17:79,051,906...79,090,378
Ensembl chr17:79,051,906...79,090,378
JBrowse link
G Rbl2 RB transcriptional corepressor like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr 8:91,070,057...91,123,844
Ensembl chr 8:91,070,057...91,123,844
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 1:54,985,169...55,027,501
Ensembl chr 1:54,985,169...55,027,481
JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr19:5,273,921...5,295,457
Ensembl chr19:5,273,932...5,295,455
JBrowse link
G Sp140 Sp140 nuclear body protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr 1:85,587,491...85,645,040
Ensembl chr 1:85,600,378...85,645,037
JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO RGD PMID:17344921 RGD:11038662 NCBI chr13:73,626,911...73,649,843
Ensembl chr13:73,626,911...73,649,843
JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chr16:32,608,896...32,632,794
Ensembl chr16:32,608,920...32,632,794
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:21812019 RGD:5685033 NCBI chr 2:148,404,471...148,408,188
Ensembl chr 2:148,404,466...148,408,188
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 chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfrsf10b tumor necrosis factor 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 chr14:69,767,472...69,784,411
Ensembl chr14:69,767,472...69,784,411
JBrowse link
G Tnfrsf11a tumor necrosis factor receptor superfamily, member 11a, NFKB activator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr 1:105,780,673...105,849,444
Ensembl chr 1:105,780,718...105,847,981
JBrowse link
G Tnfsf11 tumor necrosis factor (ligand) superfamily, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr14:78,277,446...78,308,043
Ensembl chr14:78,277,445...78,308,043
JBrowse link
G Tnfsf13 tumor necrosis factor (ligand) superfamily, member 13 ISO protein:increased expression:serum RGD PMID:15488762 RGD:1549466 NCBI chr11:69,682,577...69,685,554
Ensembl chr11:69,682,846...69,685,784
JBrowse link
G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 4:63,831,202...63,861,508
Ensembl chr 4:63,831,308...63,861,347
JBrowse link
G Topbp1 topoisomerase (DNA) II binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 9:103,305,167...103,350,428
Ensembl chr 9:103,305,215...103,350,428
JBrowse link
G Trp53 transformation related protein 53 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:10867151 RGD:11075074 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12446453 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr11:23,255,909...23,297,597
Ensembl chr11:23,256,041...23,298,249
JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 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 7:24,546,699...24,573,438
Ensembl chr 7:24,546,289...24,573,440
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 B cell leukemia/lymphoma 2 ISO OMIM NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
JBrowse link
B-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group) susceptibility ISO DNA:SNP: :rs6857600(human) RGD PMID:21918980 RGD:11080977 NCBI chr 6:58,584,491...58,692,451
Ensembl chr 6:58,584,523...58,695,676
JBrowse link
G Aicda activation-induced cytidine deaminase IMP RGD PMID:17251349 RGD:11039449 NCBI chr 6:122,553,809...122,564,180
Ensembl chr 6:122,553,801...122,564,180
JBrowse link
G Bcl2l2 BCL2-like 2 disease_progression IMP RGD PMID:28094768 RGD:14394511 NCBI chr14:54,883,366...54,890,858
Ensembl chr14:54,892,500...54,898,169
Ensembl chr14:54,892,500...54,898,169
JBrowse link
G Bcl6 B cell leukemia/lymphoma 6 ISO diffuse large B-cell lymphoma RGD PMID:11821949 RGD:1600111 NCBI chr16:23,965,050...23,988,866
Ensembl chr16:23,965,052...23,988,852
JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr17:34,112,019...34,122,814
Ensembl chr17:34,112,023...34,122,634
JBrowse link
G Btk Bruton agammaglobulinemia tyrosine kinase treatment IMP RGD PMID:25662332 RGD:11040764 NCBI chr  X:134,542,334...134,583,628
Ensembl chr  X:134,542,336...134,583,570
JBrowse link
G Cbx7 chromobox 7 IMP RGD PMID:17374722 RGD:11352707 NCBI chr15:79,915,804...79,971,143
Ensembl chr15:79,915,807...79,971,119
JBrowse link
G Cd40 CD40 antigen ISO RGD PMID:20616215 RGD:5490532 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948
JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) treatment IDA RGD PMID:8469286 RGD:10450244 NCBI chr11:54,247,270...54,249,899
Ensembl chr11:54,247,271...54,249,667
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: therapeutic CTD PMID:11042651 NCBI chr11:98,700,183...98,703,631
Ensembl chr11:98,701,263...98,703,629
JBrowse link
G Eaf2 ELL associated factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20564326 NCBI chr16:36,792,884...36,875,068
Ensembl chr16:36,792,884...36,875,003
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit severity IMP
IEA
MouseDO PMID:23982173 RGD:10755356 NCBI chr 6:47,530,274...47,595,270
Ensembl chr 6:47,530,139...47,595,341
JBrowse link
G Il21r interleukin 21 receptor ISO diffuse large B-cell lymphoma RGD PMID:11821949 RGD:1600111 NCBI chr 7:125,603,252...125,634,397
Ensembl chr 7:125,603,429...125,633,570
JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24837469 NCBI chr 8:71,676,383...71,690,577
Ensembl chr 8:71,676,296...71,690,575
JBrowse link
G Kat5 K(lysine) acetyltransferase 5 severity IMP RGD PMID:17728759 RGD:9588481 NCBI chr19:5,603,014...5,611,556
Ensembl chr19:5,603,014...5,610,237
JBrowse link
G Lgals1 lectin, galactose binding, soluble 1 ISO protein:increased expression:primary tumor (rat) RGD PMID:16733672 RGD:2316550 NCBI chr15:78,926,725...78,930,465
Ensembl chr15:78,926,725...78,930,465
JBrowse link
G Mir143 microRNA 143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:61,649,196...61,649,258
Ensembl chr18:61,649,196...61,649,258
JBrowse link
G Mir145a microRNA 145a ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:61,647,825...61,647,894
Ensembl chr18:61,647,825...61,647,894
JBrowse link
G Nras neuroblastoma ras oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:14633661 NCBI chr 3:103,058,285...103,067,914
Ensembl chr 3:103,058,285...103,067,914
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14654083 NCBI chr 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24531327 NCBI chr 2:167,930,750...167,979,385
Ensembl chr 2:167,932,057...167,979,385
JBrowse link
G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 4:63,831,202...63,861,508
Ensembl chr 4:63,831,308...63,861,347
JBrowse link
G Tnfsf9 tumor necrosis factor (ligand) superfamily, member 9 IDA RGD PMID:10202049 RGD:2317349 NCBI chr17:57,105,287...57,107,758
Ensembl chr17:57,105,325...57,107,757
JBrowse link
B-lymphoblastic leukemia/lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 c-abl oncogene 1, non-receptor tyrosine kinase treatment ISO RGD PMID:21481795 RGD:11038814 NCBI chr 2:31,688,244...31,807,093
Ensembl chr 2:31,688,376...31,804,227
JBrowse link
G Akr1c18 aldo-keto reductase family 1, member C18 treatment ISO RGD PMID:26116659 RGD:11541128 NCBI chr13:4,132,615...4,150,646
Ensembl chr13:4,132,615...4,150,654
JBrowse link
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Atf7ip activating transcription factor 7 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr 6:136,518,789...136,610,850
Ensembl chr 6:136,506,167...136,610,862
JBrowse link
G Bcl2l1 BCL2-like 1 severity IMP RGD PMID:18216295 RGD:11531108 NCBI chr 2:152,758,732...152,833,803
Ensembl chr 2:152,780,668...152,831,728
JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr17:34,112,019...34,122,814
Ensembl chr17:34,112,023...34,122,634
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24154679 NCBI chr10:24,595,442...24,598,683
Ensembl chr10:24,595,442...24,598,683
JBrowse link
G Ccnd1 cyclin D1 IEP mRNA:increased expression:B cell (mouse) RGD PMID:23169640 RGD:11353783 NCBI chr 7:144,929,931...144,939,831
Ensembl chr 7:144,929,931...144,939,925
JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 8:106,603,350...106,670,247
Ensembl chr 8:106,603,351...106,670,246
JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A treatment
susceptibility
IMP
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 4:89,274,473...89,294,619
Ensembl chr 4:89,274,471...89,294,653
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:10617473, PMID:11053450, PMID:11479205, PMID:11719428, PMID:11967536, PMID:12094328, PMID:12533788, PMID:12690581, PMID:14648717, PMID:14648718, PMID:14648719, PMID:15122511, PMID:15488637, PMID:15492928, PMID:15520402, PMID:16257342, PMID:16492927, PMID:16880452, PMID:17085682, PMID:18172190, PMID:19338683, PMID:19805189, PMID:21807500, PMID:21956126, PMID:22006311, PMID:22058428, PMID:22419737, PMID:22811390, PMID:22994785, PMID:23469205, PMID:24033266, PMID:24884479, PMID:25431674, PMID:25741868, PMID:26084796, PMID:26467025, PMID:26641009, PMID:26681312, PMID:26822237, PMID:26845104, PMID:26884562, PMID:27083775, PMID:27153395, PMID:27269948, PMID:27433846, PMID:27751358, PMID:27798748, PMID:28125075, PMID:28135145, PMID:28195393, PMID:28492532, PMID:28503720, PMID:28514723, PMID:28727877, PMID:28734145, PMID:28779002, PMID:28802053, PMID:28874143, PMID:29351919, PMID:29489754, PMID:30311386 NCBI chr 5:110,839,800...110,874,140
Ensembl chr 5:110,839,979...110,874,145
JBrowse link
G Crlf2 cytokine receptor-like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr 5:109,554,709...109,559,128
Ensembl chr 5:109,554,709...109,558,993
JBrowse link
G Cyp3a13 cytochrome P450, family 3, subfamily a, polypeptide 13 treatment ISO DNA:polymorphisms: : RGD PMID:21225912 RGD:11353807 NCBI chr 5:137,892,933...137,925,610
Ensembl chr 5:137,892,932...137,921,619
JBrowse link
G Duxbl1 double homeobox B-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27019113 NCBI chr14:25,978,560...25,990,166
Ensembl chr14:26,257,962...26,269,436
Ensembl chr14:26,257,962...26,269,436
Ensembl chr14:26,257,962...26,269,436
JBrowse link
G Ercc4 excision repair cross-complementing rodent repair deficiency, complementation group 4 ISO ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:23623386, PMID:25741868 NCBI chr16:13,109,366...13,152,009
Ensembl chr16:13,109,684...13,150,617
JBrowse link
G Etv6 ets variant 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15217836, PMID:24413735, PMID:25807284 NCBI chr 6:134,035,700...134,270,158
Ensembl chr 6:134,035,700...134,270,158
JBrowse link
G F13a1 coagulation factor XIII, A1 subunit ISO protein:increased expression:B lymphoblast: RGD PMID:16894461 RGD:11041855 NCBI chr13:36,867,178...37,050,244
Ensembl chr13:36,867,178...37,050,244
JBrowse link
G F3 coagulation factor III treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chr 3:121,723,537...121,735,052
Ensembl chr 3:121,723,537...121,735,048
JBrowse link
G Fh1 fumarate hydratase 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:175,601,378...175,625,635
Ensembl chr 1:175,600,374...175,625,635
JBrowse link
G Flt3 FMS-like tyrosine kinase 3 ISO mRNA,protein:increased expression:bone marrow: RGD PMID:8562934 RGD:11049466 NCBI chr 5:147,330,741...147,400,489
Ensembl chr 5:147,330,741...147,400,489
JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr 2:9,857,078...9,887,953
Ensembl chr 2:9,857,078...9,890,034
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 chr11:11,684,962...11,772,930
Ensembl chr11:11,685,003...11,772,926
JBrowse link
G Il5 interleukin 5 IMP RGD PMID:15368290 RGD:7241068 NCBI chr11:53,720,794...53,725,103
Ensembl chr11:53,720,794...53,725,106
JBrowse link
G Irf4 interferon regulatory factor 4 IMP RGD PMID:25006123, PMID:20585039, PMID:21818355 RGD:11526159, RGD:11530030, RGD:11530020 NCBI chr13:30,749,233...30,766,981
Ensembl chr13:30,749,226...30,766,976
JBrowse link
G Irf8 interferon regulatory factor 8 IMP RGD PMID:20585039 RGD:11530030 NCBI chr 8:120,736,358...120,756,694
Ensembl chr 8:120,736,358...120,756,694
JBrowse link
G Mga MAX gene associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr 2:119,872,503...119,970,129
Ensembl chr 2:119,897,228...119,969,581
JBrowse link
G Myb myeloblastosis oncogene disease_progression ISO mRNA:splice variants:cds: RGD PMID:21853052 RGD:11532669 NCBI chr10:21,124,930...21,160,984
Ensembl chr10:21,124,935...21,160,984
JBrowse link
G Myc myelocytomatosis oncogene IMP RGD PMID:22120021 RGD:7207416 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
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 chr11:79,339,590...79,581,609
Ensembl chr11:79,339,693...79,581,612
JBrowse link
G Pax5 paired box 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24013638, PMID:30643249 NCBI chr 4:44,524,748...44,710,694
Ensembl chr 4:44,524,757...44,710,487
JBrowse link
G Pbx1 pre B cell leukemia homeobox 1 ISO OMIM NCBI chr 1:168,119,364...168,432,365
Ensembl chr 1:168,119,364...168,432,270
JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide treatment IDA RGD PMID:22447844 RGD:11075097 NCBI chr 5:75,151,322...75,198,206
Ensembl chr 5:75,152,292...75,198,215
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 chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
G Runx1 runt related transcription factor 1 onset ISO DNA:amplification
CTD Direct Evidence: marker/mechanism
CTD PMID:15217836, PMID:24413735, PMID:21822204 RGD:6482828 NCBI chr16:92,601,466...92,826,074
Ensembl chr16:92,601,466...92,826,149
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19796711 NCBI chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540
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 chr10:80,115,767...80,130,679
Ensembl chr10:80,115,803...80,130,682
JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246562 NCBI chr10:80,409,541...80,433,976
Ensembl chr10:80,409,514...80,433,647
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chr 2:84,432,855...84,476,775
Ensembl chr 2:84,432,855...84,476,775
JBrowse link
G Tnfsf13 tumor necrosis factor (ligand) superfamily, member 13 ISO RGD PMID:15488762 RGD:1549466 NCBI chr11:69,682,577...69,685,554
Ensembl chr11:69,682,846...69,685,784
JBrowse link
G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 4:63,831,202...63,861,508
Ensembl chr 4:63,831,308...63,861,347
JBrowse link
G Trp53 transformation related protein 53 disease_progression ISO DNA:mutations: : RGD PMID:22699455 RGD:11075072 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Wt1 Wilms tumor 1 homolog ISO ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:8621495, PMID:12640141, PMID:16987884, PMID:25741868, PMID:28492532, PMID:28811308 NCBI chr 2:105,126,529...105,173,614
Ensembl chr 2:105,126,529...105,173,616
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, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 ClinVar PMID:25741868 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
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 chr17:87,975,050...87,990,892
Ensembl chr17:87,975,062...87,990,892
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 ClinVar PMID:25741868 NCBI chr 5:121,130,533...121,191,397
Ensembl chr 5:121,130,533...121,191,397
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, WNT signaling pathway regulator 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 chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Bmpr1a bone morphogenetic protein receptor, type 1A ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868, PMID:28492532 NCBI chr14:34,411,061...34,503,336
Ensembl chr14:34,410,734...34,503,341
JBrowse link
G Brca2 breast cancer 2, early onset 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 5:150,522,297...150,570,147
Ensembl chr 5:150,522,630...150,570,329
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 chr17:87,672,532...87,723,713
Ensembl chr17:87,672,330...87,723,713
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 chr17:87,975,050...87,990,892
Ensembl chr17:87,975,062...87,990,892
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 7:122,107,262...122,132,980
Ensembl chr 7:122,107,262...122,132,985
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 chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
G Recql4 RecQ protein-like 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 chr15:76,703,553...76,710,616
Ensembl chr15:76,703,553...76,710,548
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868 NCBI chr17:80,393,752...80,480,453
Ensembl chr17:80,393,751...80,480,453
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 anaplastic lymphoma kinase ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:25741868, PMID:28492532 NCBI chr17:71,868,988...72,604,702
Ensembl chr17:71,868,972...72,604,627
JBrowse link
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:25741868, PMID:28492532 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Brca1 breast cancer 1, early onset 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 chr11:101,488,761...101,551,955
Ensembl chr11:101,488,764...101,551,955
JBrowse link
G Brca2 breast cancer 2, early onset 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 chr 5:150,522,297...150,570,147
Ensembl chr 5:150,522,630...150,570,329
JBrowse link
G Cbl Casitas B-lineage lymphoma ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:24033266, PMID:25741868 NCBI chr 9:44,142,976...44,234,259
Ensembl chr 9:44,142,976...44,234,049
JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:25741868 NCBI chr10:81,105,913...81,124,697
Ensembl chr10:81,105,915...81,133,975
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 chr17:87,672,532...87,723,713
Ensembl chr17:87,672,330...87,723,713
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:21490379, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:118,151,748...118,197,744
Ensembl chr 6:118,151,745...118,197,718
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, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy ClinVar PMID:25741868, PMID:28492532 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Cebpa CCAAT/enhancer binding protein (C/EBP), alpha ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy ClinVar PMID:25741868, PMID:28492532 NCBI chr 7:35,119,293...35,121,928
Ensembl chr 7:35,119,293...35,121,928
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 6:118,151,748...118,197,744
Ensembl chr 6:118,151,745...118,197,718
JBrowse link
G Sdha succinate dehydrogenase complex, subunit A, flavoprotein (Fp) ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy ClinVar PMID:25741868, PMID:28492532 NCBI chr13:74,322,255...74,350,240
Ensembl chr13:74,322,254...74,350,280
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 chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 ClinVar PMID:22589294, PMID:25741868, PMID:26580448, PMID:27153395, PMID:28492532 NCBI chr17:80,393,752...80,480,453
Ensembl chr17:80,393,751...80,480,453
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 chr17:24,595,816...24,632,676
Ensembl chr17:24,595,816...24,632,630
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 chr 8:88,647,315...88,688,474
Ensembl chr 8:88,647,315...88,688,474
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11482875 NCBI chr15:83,226,722...83,251,729
Ensembl chr15:83,226,722...83,251,774
JBrowse link
G Arid1a AT rich interactive domain 1A (SWI-like) ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 4:133,679,008...133,756,769
Ensembl chr 4:133,679,008...133,756,769
JBrowse link
G Bbc3 BCL2 binding component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18573879 NCBI chr 7:16,308,398...16,318,334
Ensembl chr 7:16,308,393...16,318,205
JBrowse link
G Bcl2l2 BCL2-like 2 ISO mRNA:increased expression:lymph node RGD PMID:28094768 RGD:14394511 NCBI chr14:54,883,366...54,890,858
Ensembl chr14:54,892,500...54,898,169
Ensembl chr14:54,892,500...54,898,169
JBrowse link
G Cct6b chaperonin containing Tcp1, subunit 6b (zeta) ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr11:82,713,112...82,764,388
Ensembl chr11:82,719,250...82,764,321
JBrowse link
G Cd40 CD40 antigen treatment ISO human cell line in a mouse model RGD PMID:9192773 RGD:11520790 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948
JBrowse link
G Ftcd formiminotransferase cyclodeaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr10:76,575,648...76,590,338
Ensembl chr10:76,575,648...76,590,338
JBrowse link
G Gna13 guanine nucleotide binding protein, alpha 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr11:109,362,794...109,401,369
Ensembl chr11:109,362,831...109,401,369
JBrowse link
G Id3 inhibitor of DNA binding 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143595, PMID:23143597 NCBI chr 4:136,143,822...136,145,392
Ensembl chr 4:136,143,497...136,145,755
JBrowse link
G Myc myelocytomatosis oncogene IAGP
IEA
ISO
OMIM:113970
ClinVar Annotator: match by term: Burkitt lymphoma
DNA:mutations:exons:multiple (human)
ClinVar Annotator: match by OMIM:113970
MouseDO
ClinVar
OMIM
PMID:8220424, PMID:25157968, PMID:8220424, PMID:8397370 RGD:1601453, RGD:10059619 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
JBrowse link
G Pbx1 pre B cell leukemia homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982, PMID:17244677 NCBI chr 1:168,119,364...168,432,365
Ensembl chr 1:168,119,364...168,432,270
JBrowse link
G Pcx pyruvate carboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr19:4,510,472...4,621,752
Ensembl chr19:4,510,472...4,621,752
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr13:101,680,761...101,768,217
Ensembl chr13:101,680,563...101,768,217
JBrowse link
G Pms2 PMS1 homolog2, mismatch repair system component ISO ClinVar Annotator: match by term: Burkitt lymphoma ClinVar PMID:15887099, PMID:18602922, PMID:20205264, PMID:22120844, PMID:22577899, PMID:23012243, PMID:23652311, PMID:24033266, PMID:24362816, PMID:24728189, PMID:24728327, PMID:25512458, PMID:25741868, PMID:25856668, PMID:25980754, PMID:26116798, PMID:26318770, PMID:26467025, PMID:26681312, PMID:27017610, PMID:27037742, PMID:28492532, PMID:28562508, PMID:30155321 NCBI chr 5:143,909,901...143,972,745
Ensembl chr 5:143,909,964...143,933,968
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 6:118,151,748...118,197,744
Ensembl chr 6:118,151,745...118,197,718
JBrowse link
G Sall3 spalt like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr18:80,966,989...80,987,021
Ensembl chr18:80,966,376...80,986,771
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 9:21,616,106...21,704,230
Ensembl chr 9:21,616,169...21,704,230
JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982, PMID:17244677 NCBI chr10:80,409,541...80,433,976
Ensembl chr10:80,409,514...80,433,647
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 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
central nervous system lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 ISO DNA:SNP:promoter:-1082G>A (human) RGD PMID:22628023 RGD:7364831 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
childhood acute lymphocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pms2 PMS1 homolog2, mismatch repair system component ISO ClinVar Annotator: match by term: Acute lymphoblastic leukemia, childhood ClinVar PMID:15887099, PMID:18602922, PMID:20205264, PMID:22120844, PMID:22577899, PMID:23012243, PMID:23652311, PMID:24033266, PMID:24362816, PMID:24728189, PMID:24728327, PMID:25512458, PMID:25741868, PMID:25856668, PMID:25980754, PMID:26116798, PMID:26318770, PMID:26467025, PMID:26681312, PMID:27017610, PMID:27037742, PMID:28492532, PMID:28562508, PMID:30155321 NCBI chr 5:143,909,901...143,972,745
Ensembl chr 5:143,909,964...143,933,968
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 chr19:28,995,053...29,048,080
Ensembl chr19:29,020,833...29,047,961
JBrowse link
G Braf Braf transforming gene 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 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
G Btk Bruton agammaglobulinemia tyrosine kinase ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:24869598, PMID:28492532 NCBI chr  X:134,542,334...134,583,628
Ensembl chr  X:134,542,336...134,583,570
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:9450802 RGD:11522717 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G Cd86 CD86 antigen ISO DNA:hypermethylation (human) RGD PMID:23154584 RGD:11354975 NCBI chr16:36,568,956...36,666,158
Ensembl chr16:36,603,869...36,666,081
JBrowse link
G Fbxw7 F-box and WD-40 domain protein 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 3:84,814,990...84,979,198
Ensembl chr 3:84,815,268...84,979,198
JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:12835555, PMID:16329078, PMID:16372351, PMID:16835863, PMID:17211612, PMID:17384584, PMID:18042262, PMID:19213030, PMID:19255327, PMID:19773371, PMID:20859122, PMID:21438134, PMID:21495179, PMID:21850009, PMID:22256804, PMID:22499344, PMID:22683711, PMID:22726224, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29493581, PMID:168335863 NCBI chr 7:141,189,934...141,194,019
Ensembl chr 7:141,189,105...141,194,005
JBrowse link
G Igh immunoglobulin heavy chain complex IEA OMIM:109543 | OMIM:151400 | OMIM:609630 | OMIM:612557 | OMIM:612558 | OMIM:612559 MouseDO NCBI chr12:113,258,768...116,009,954 JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:21911837 RGD:11354912 NCBI chr11:53,720,794...53,725,103
Ensembl chr11:53,720,794...53,725,106
JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression IMP
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 chr13:30,749,233...30,766,981
Ensembl chr13:30,749,226...30,766,976
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog 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 6:145,216,699...145,250,420
Ensembl chr 6:145,216,699...145,250,239
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:12835555, PMID:16329078, PMID:16372351, PMID:16835863, PMID:17211612, PMID:17384584, PMID:18042262, PMID:19213030, PMID:19255327, PMID:19773371, PMID:20859122, PMID:21438134, PMID:21495179, PMID:21850009, PMID:22256804, PMID:22499344, PMID:22683711, PMID:22726224, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29493581, PMID:168335863 NCBI chr 7:141,194,111...141,210,055
Ensembl chr 7:141,194,157...141,210,055
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:29658610 RGD:21081544 NCBI chr16:84,714,140...84,714,204
Ensembl chr16:84,714,140...84,714,204
JBrowse link
G Mir21a microRNA 21a ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:29658610 RGD:21081544 NCBI chr11:86,584,067...86,584,158
Ensembl chr11:86,584,067...86,584,158
JBrowse link
G Myc myelocytomatosis oncogene disease_progression ISO RGD PMID:20956327 RGD:11340590 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
JBrowse link
G Myd88 myeloid differentiation primary response gene 88 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:21179087, PMID:22931316, PMID:23215570, PMID:26619011, PMID:28492532 NCBI chr 9:119,335,934...119,340,018
Ensembl chr 9:119,335,934...119,341,411
JBrowse link
G Nras neuroblastoma ras oncogene 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 3:103,058,285...103,067,914
Ensembl chr 3:103,058,285...103,067,914
JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:24869598 NCBI chr 8:117,498,275...117,635,142
Ensembl chr 8:117,498,291...117,635,142
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26254371 RGD:11073982 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
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 chr 5:121,130,533...121,191,397
Ensembl chr 5:121,130,533...121,191,397
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 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 3:103,856,575...103,912,252
Ensembl chr 3:103,859,795...103,912,247
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 1:54,985,169...55,027,501
Ensembl chr 1:54,985,169...55,027,481
JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr19:5,273,921...5,295,457
Ensembl chr19:5,273,932...5,295,455
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 chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540
JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:1359493, PMID:1565143, PMID:1565144, PMID:1631137, PMID:1679237, PMID:1683921, PMID:1978757, PMID:2046748, PMID:2531845, PMID:2554494, PMID:2826609, PMID:7651740, PMID:7732013, PMID:7791795, PMID:7887414, PMID:8023157, PMID:8062826, PMID:8099841, PMID:8164043, PMID:8242631, PMID:8423216, PMID:8425176, PMID:8479749, PMID:8527048, PMID:8718514, PMID:8825920, PMID:9242456, PMID:9290701, PMID:9364015, PMID:9407971, PMID:9546439, PMID:9569050, PMID:9598730, PMID:9627118, PMID:9632751, PMID:9825943, PMID:9839505, PMID:10064694, PMID:10411893, PMID:10519380, PMID:10761705, PMID:10797439, PMID:10864200, PMID:11051239, PMID:11139324, PMID:11180592, PMID:11370630, PMID:11429705, PMID:11479205, PMID:11593407, PMID:11782540, PMID:11793474, PMID:11896595, PMID:11920959, PMID:12007217, PMID:12406399, PMID:12672316, PMID:12700230, PMID:12726864, PMID:12826609, PMID:12917626, PMID:14559903, PMID:14584079, PMID:14673037, PMID:15004724, PMID:15017592, PMID:15381368, PMID:15390294, PMID:15607980, PMID:15607981, PMID:15722483, PMID:15825182, PMID:15925506, PMID:15951970, PMID:16337994, PMID:16401470, PMID:16489069, PMID:16682957, PMID:16818505, PMID:16827139, PMID:16861262, PMID:17390010, PMID:17417627, PMID:17427234, PMID:17540308, PMID:17572079, PMID:17606709, PMID:17636407, PMID:17724467, PMID:18511570, PMID:18685109, PMID:19147582, PMID:19378321, PMID:19405127, PMID:19556618, PMID:19681600, PMID:19850740, PMID:19930417, PMID:20013323, PMID:20113312, PMID:20128691, PMID:20308654, PMID:20407015, PMID:20505364, PMID:20516128, PMID:20522432, PMID:20693561, PMID:20805372, PMID:20878954, PMID:21056685, PMID:21059199, PMID:21115975, PMID:21159183, PMID:21187651, PMID:21305319, PMID:21343334, PMID:21483000, PMID:21484931, PMID:21514416, PMID:21519010, PMID:21535297, PMID:21552135, PMID:21601526, PMID:21761402, PMID:22006311, PMID:22109999, PMID:22110706, PMID:22114072, PMID:22186996, PMID:22198284, PMID:22233476, PMID:22265402, PMID:22713868, PMID:22811390, PMID:22844452, PMID:22866089, PMID:22899716, PMID:22915647, PMID:22919068, PMID:23161690, PMID:23172776, PMID:23246812, PMID:23263379, PMID:23265383, PMID:23538418, PMID:23667202, PMID:23713777, PMID:23792586, PMID:23894400, PMID:23950206, PMID:24033266, PMID:24038938, PMID:24381225, PMID:24487413, PMID:24501221, PMID:24573247, PMID:24590827, PMID:24603336, PMID:24641375, PMID:24651012, PMID:24651015, PMID:24677579, PMID:24766216, PMID:24810334, PMID:25157968, PMID:25293557, PMID:25294809, PMID:25339994, PMID:25504633, PMID:25525159, PMID:25584008, PMID:25584637, PMID:25634208, PMID:25691460, PMID:25741868, PMID:25787918, PMID:25896519, PMID:25925845, PMID:25927356, PMID:25945745, PMID:25952993, PMID:26014290, PMID:26024390, PMID:26230955, PMID:26425688, PMID:26467025, PMID:26534844, PMID:26585234, PMID:26619011, PMID:26681312, PMID:26781615, PMID:26787237, PMID:26822237, PMID:26845104, PMID:27179933, PMID:27276561, PMID:27276934, PMID:27374712, PMID:27463065, PMID:27493922, PMID:27501770, PMID:27523101, PMID:27680515, PMID:27683180, PMID:27714481, PMID:27724982, PMID:27895058, PMID:27959731, PMID:28152038, PMID:28369373, PMID:28453743, PMID:28472496, PMID:28476805, PMID:28492532, PMID:28724667, PMID:28861920, PMID:29025599, PMID:29324801, PMID:29416011, PMID:29470806, PMID:29478780, PMID:29489754, PMID:29752822, PMID:29979965, PMID:30076369, PMID:30224644, PMID:30327374, PMID:30720243, PMID:30840781 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr11:23,255,909...23,297,597
Ensembl chr11:23,256,041...23,298,249
JBrowse link
Churg-Strauss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl26 chemokine (C-C motif) ligand 26 ISO protein:increased expression:serum (human) RGD PMID:21266446 RGD:11081158 NCBI chr 5:135,560,448...135,563,569
Ensembl chr 5:135,560,448...135,563,569
JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr15:7,810,048...7,837,580
Ensembl chr15:7,810,846...7,837,575
JBrowse link
G Gfra1 glial cell line derived neurotrophic factor family receptor alpha 1 ISO RGD PMID:9853108 RGD:6218983 NCBI chr19:58,235,581...58,455,946
Ensembl chr19:58,235,604...58,455,909
JBrowse link
G Il5 interleukin 5 severity ISO RGD PMID:22772323 RGD:6892720 NCBI chr11:53,720,794...53,725,103
Ensembl chr11:53,720,794...53,725,106
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:22772323 RGD:6892720 NCBI chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540
JBrowse link
G Vtn vitronectin ISO RGD PMID:12126637 RGD:1580817 NCBI chr11:78,499,120...78,502,325
Ensembl chr11:78,499,091...78,502,324
JBrowse link
common variable immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd19 CD19 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 7:126,408,448...126,415,148
Ensembl chr 7:126,408,450...126,414,889
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G Cd81 CD81 antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:143,052,750...143,067,930
Ensembl chr 7:143,052,739...143,067,934
JBrowse link
G Cr2 complement receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:195,136,811...195,176,880
Ensembl chr 1:195,136,811...195,176,716
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 chr 2:3,424,061...3,474,211
Ensembl chr 2:3,424,131...3,464,130
JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III ISO protein:decreased expression:blood, monocyte RGD PMID:17900300 RGD:5147988 NCBI chr 1:171,051,169...171,065,915
Ensembl chr 1:171,051,174...171,064,935
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphisms (human) RGD PMID:10361244 RGD:5147864 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G Icos inducible T cell co-stimulator IEA
ISO
OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767
CTD Direct Evidence: marker/mechanism
MouseDO
CTD
NCBI chr 1:60,960,773...61,000,322
Ensembl chr 1:60,977,927...61,000,320
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:11,684,962...11,772,930
Ensembl chr11:11,685,003...11,772,926
JBrowse link
G Il21 interleukin 21 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:37,222,759...37,232,636
Ensembl chr 3:37,222,759...37,232,636
JBrowse link
G Il21r interleukin 21 receptor ISO DNA:SNPs:exons: RGD PMID:18254984 RGD:6892941 NCBI chr 7:125,603,252...125,634,397
Ensembl chr 7:125,603,429...125,633,570
JBrowse link
G Lrba LPS-responsive beige-like anchor ISS OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767 MouseDO NCBI chr 3:86,223,456...86,782,694
Ensembl chr 3:86,224,680...86,782,692
JBrowse link
G Manba mannosidase, beta A, lysosomal ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr 3:135,485,611...135,571,404
Ensembl chr 3:135,485,611...135,571,404
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 ISO DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human) RGD PMID:10652157 RGD:4889436 NCBI chr19:30,232,906...30,239,687
Ensembl chr19:30,232,942...30,239,687
JBrowse link
G Ms4a1 membrane-spanning 4-domains, subfamily A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:11,249,679...11,266,149
Ensembl chr19:11,249,675...11,266,241
JBrowse link
G Nfkb1 nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105 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 3:135,584,655...135,691,969
Ensembl chr 3:135,584,655...135,691,547
JBrowse link
G Nfkb2 nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100 IEA
ISO
OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767
ClinVar Annotator: match by term: Common variable immunodeficiency
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
PMID:24140114, PMID:24702956, PMID:25524009, PMID:25605273, PMID:25741868, PMID:28492532, PMID:28778864, PMID:29225085, PMID:30941118 NCBI chr19:46,300,994...46,312,400
Ensembl chr19:46,304,320...46,312,385
JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 ISO protein:decreased expression:T cell (human) RGD PMID:22697005 RGD:6771226 NCBI chr11:106,654,213...106,715,281
Ensembl chr11:106,654,217...106,750,628
JBrowse link
G Rag2 recombination activating gene 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:18463379, PMID:24331380, PMID:25741868, PMID:26457731, PMID:28492532 NCBI chr 2:101,624,712...101,632,528
Ensembl chr 2:101,624,718...101,632,529
JBrowse link
G Tnfrsf13b tumor necrosis factor receptor superfamily, member 13b ISO ClinVar Annotator: match by OMIM:240500
ClinVar Annotator: match by term: Common variable agammaglobulinemia
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant
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: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 chr11:61,126,283...61,153,170
Ensembl chr11:61,126,755...61,149,372
JBrowse link
G Tnfrsf13c tumor necrosis factor receptor superfamily, member 13c ISO ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr15:82,221,742...82,224,380
Ensembl chr15:82,221,743...82,224,369
JBrowse link
G Tnfsf12 tumor necrosis factor (ligand) superfamily, member 12 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,686,240...69,696,098
Ensembl chr11:69,686,250...69,695,849
JBrowse link
G Tnfsfm13 tumor necrosis factor (ligand) superfamily, membrane-bound member 13 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,682,577...69,696,098
Ensembl chr11:69,682,577...69,696,098
JBrowse link
G Ttc7 tetratricopeptide repeat domain 7 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr17:87,282,808...87,381,770
Ensembl chr17:87,282,886...87,381,769
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 1:60,960,773...61,000,322
Ensembl chr 1:60,977,927...61,000,320
JBrowse link
G Nfkb2 nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 1 ClinVar PMID:24140114 NCBI chr19:46,300,994...46,312,400
Ensembl chr19:46,304,320...46,312,385
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 of kappa light polypeptide gene enhancer in B cells 2, p49/p100 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 chr19:46,300,994...46,312,400
Ensembl chr19:46,304,320...46,312,385
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 3:37,222,759...37,232,636
Ensembl chr 3:37,222,759...37,232,636
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 of kappa light polypeptide gene enhancer in B cells 1, p105 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 3:135,584,655...135,691,969
Ensembl chr 3:135,584,655...135,691,547
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 chr11:11,684,962...11,772,930
Ensembl chr11:11,685,003...11,772,926
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 chr 8:126,588,296...126,593,986
Ensembl chr 8:126,588,296...126,593,986
JBrowse link
Common Variable Immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf13b tumor necrosis factor 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: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 chr11:61,126,283...61,153,170
Ensembl chr11:61,126,755...61,149,372
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 antigen 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 7:126,408,448...126,415,148
Ensembl chr 7:126,408,450...126,414,889
JBrowse link
Common Variable Immunodeficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1500009C09Rik RIKEN cDNA 1500009C09 gene ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr15:82,252,472...82,260,746
Ensembl chr15:82,252,397...82,260,753
JBrowse link
G Aco2 aconitase 2, mitochondrial ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr15:81,872,463...81,915,137
Ensembl chr15:81,872,309...81,915,133
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 chr15:82,127,898...82,142,203
Ensembl chr15:82,127,922...82,142,203
JBrowse link
G Cenpm centromere protein M ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr15:82,233,762...82,244,773
Ensembl chr15:82,233,779...82,244,748
JBrowse link
G Csdc2 cold shock domain containing C2, RNA binding ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr15:81,936,759...81,950,941
Ensembl chr15:81,936,759...81,950,941
JBrowse link
G Desi1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr15:81,992,523...82,016,258
Ensembl chr15:81,992,523...82,033,862
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 chr15:82,070,074...82,126,817
Ensembl chr15:82,069,996...82,126,814
JBrowse link
G Mir33 microRNA 33 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr15:82,198,122...82,198,190
Ensembl chr15:82,198,122...82,198,190
JBrowse link
G Naga N-acetyl galactosaminidase, alpha ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr15:82,329,532...82,338,884
Ensembl chr15:82,329,532...82,338,925
JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr15:81,864,516...81,871,892
Ensembl chr15:81,864,520...81,871,911
JBrowse link
G Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr15:81,951,106...81,960,930
Ensembl chr15:81,951,108...81,960,930
JBrowse link
G Polr3h polymerase (RNA) III (DNA directed) polypeptide H ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr15:81,915,030...81,926,247
Ensembl chr15:81,888,228...81,926,240
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 chr15:81,704,248...81,730,798
Ensembl chr15:81,704,248...81,745,530
JBrowse link
G Septin3 septin 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr15:82,268,802...82,294,574
Ensembl chr15:82,268,802...82,294,574
JBrowse link
G Shisa8 shisa family member 8 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr15:82,206,173...82,212,848
Ensembl chr15:82,206,168...82,212,815
JBrowse link
G Snu13 SNU13 homolog, small nuclear ribonucleoprotein (U4/U6.U5) ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr15:82,041,345...82,047,598
Ensembl chr15:82,040,525...82,047,598
JBrowse link
G Srebf2 sterol regulatory element binding factor 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr15:82,147,269...82,205,379
Ensembl chr15:82,147,181...82,205,379
JBrowse link
G Tef thyrotroph embryonic factor ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr15:81,802,673...81,826,863
Ensembl chr15:81,802,421...81,826,863
JBrowse link
G Tnfrsf13c tumor necrosis factor 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 chr15:82,221,742...82,224,380
Ensembl chr15:82,221,743...82,224,369
JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr15:81,848,270...81,858,326
Ensembl chr15:81,848,272...81,858,796
JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr15:82,298,925...82,314,647
Ensembl chr15:82,298,954...82,314,623
JBrowse link
G Xrcc6 X-ray repair complementing defective repair in Chinese hamster cells 6 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr15:81,987,833...82,040,085
Ensembl chr15:81,987,835...82,040,085
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 chr15:81,745,098...81,796,269
Ensembl chr15:81,745,057...81,796,260
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, subfamily A, member 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 5 OMIM
ClinVar
PMID:25741868 NCBI chr19:11,249,679...11,266,149
Ensembl chr19:11,249,675...11,266,241
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 antigen 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 7:143,052,750...143,067,930
Ensembl chr 7:143,052,739...143,067,934
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 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 chr 1:195,136,811...195,176,880
Ensembl chr 1:195,136,811...195,176,716
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 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 3:86,223,456...86,782,694
Ensembl chr 3:86,224,680...86,782,692
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 3:86,546,050...86,548,283
Ensembl chr 3:86,545,581...86,548,629
JBrowse link
cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B (MDR/TAP), member 1A susceptibility ISO associated with hepatitis C;DNA:SNP: :3435C>T(human) RGD PMID:28453396 RGD:14700902 NCBI chr 5:8,567,091...8,748,575
Ensembl chr 5:8,660,077...8,748,575
JBrowse link
G Cd86 CD86 antigen ISO associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human) RGD PMID:23840845 RGD:11354974 NCBI chr16:36,568,956...36,666,158
Ensembl chr16:36,603,869...36,666,081
JBrowse link
G Cxcl10 chemokine (C-X-C motif) ligand 10 ISO associated with hepatitis C; protein:increased expression:serum RGD PMID:18775023 RGD:27095893 NCBI chr 5:92,346,638...92,348,889
Ensembl chr 5:92,346,638...92,348,889
JBrowse link
G Ifnl2 interferon lambda 2 susceptibility
severity
ISO associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) RGD PMID:24293567, PMID:24293567 RGD:11528546, RGD:11528546 NCBI chr 7:28,508,784...28,510,532
Ensembl chr 7:28,508,836...28,510,455
JBrowse link
G Tcn2 transcobalamin 2 ISO associated with Glomerulonephritis;protein:increased expression:serum: RGD PMID:3574578 RGD:11060121 NCBI chr11:3,917,077...3,932,078
Ensembl chr11:3,917,192...3,932,159
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:19860001 RGD:10450529 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tslp thymic stromal lymphopoietin IEA MouseDO NCBI chr18:32,815,383...32,819,799
Ensembl chr18:32,815,383...32,819,797
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 6:122,553,809...122,564,180
Ensembl chr 6:122,553,801...122,564,180
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 chr18:32,815,383...32,819,799
Ensembl chr18:32,815,383...32,819,797
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 interactive domain 1A (SWI-like) ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 4:133,679,008...133,756,769
Ensembl chr 4:133,679,008...133,756,769
JBrowse link