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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


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acute leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP ClinVar Annotator: match by term: Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified ClinVar PMID:7585650, PMID:9195225, PMID:22234153, PMID:23221806, PMID:23232694, PMID:24728327, PMID:25716912, PMID:25741868, PMID:30311386 NCBI chr19:45,349,837...45,370,647
Ensembl chr19:45,349,837...45,370,918
JBrowse link
acute lymphoblastic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 susceptibility IAGP
EXP
DNA:snps, haplotype:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:22674224, PMID:22674224 RGD:8657089 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
Ensembl chr 7:87,503,017...87,713,323
JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 treatment IAGP DNA:SNP:5'UTR:rs717620(human)
DNA:SNPs: :rs717620(human)
RGD PMID:24404132, PMID:25007187 RGD:11080959, RGD:11080979 NCBI chr10:99,782,602...99,853,741
Ensembl chr10:99,782,640...99,852,594
JBrowse link
G ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) disease_progression IEP mRNA:increased expression:mononuclear cell: RGD PMID:15521915, PMID:12100141 RGD:11081076, RGD:11081143 NCBI chr 4:88,090,264...88,231,626
Ensembl chr 4:88,090,150...88,231,628
JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:11984797, PMID:21898527 NCBI chr 9:130,713,881...130,887,675
Ensembl chr 9:130,713,016...130,887,675
JBrowse link
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase susceptibility IAGP RGD PMID:17065136 RGD:11100012 NCBI chr 9:133,250,401...133,275,201
Ensembl chr 9:133,250,401...133,276,024
JBrowse link
G AICDA activation induced cytidine deaminase treatment IEP RGD PMID:19759560 RGD:11039451 NCBI chr12:8,602,170...8,612,970
Ensembl chr12:8,602,170...8,612,867
JBrowse link
G ARID5B AT-rich interaction domain 5B EXP CTD Direct Evidence: marker/mechanism CTD PMID:19684603, PMID:19684604 NCBI chr10:61,901,254...62,096,944
Ensembl chr10:61,901,684...62,096,944
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator EXP CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 1:150,809,713...150,876,737
Ensembl chr 1:150,809,713...150,876,708
JBrowse link
G BAX BCL2 associated X, apoptosis regulator susceptibility IAGP
EXP
CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr19:48,954,825...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCL2 BCL2 apoptosis regulator severity IEP mRNA:increased expression:bone marrow (human) RGD PMID:25982455 RGD:11076595 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BCL2L1 BCL2 like 1 treatment IDA
IEP
mRNA:increased expression:blood, mononuclear cell (human) RGD PMID:12469194, PMID:19020783 RGD:11353852, RGD:11353866 NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989
JBrowse link
G BCR BCR activator of RhoGEF and GTPase susceptibility IAGP
EXP
CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
JBrowse link
G CASP8 caspase 8 EXP CTD Direct Evidence: therapeutic CTD PMID:22010212 NCBI chr 2:201,233,443...201,287,711
Ensembl chr 2:201,233,443...201,287,711
JBrowse link
G CAST calpastatin IEP protein:increased expresssion:B cell RGD PMID:11264179 RGD:5509822 NCBI chr 5:96,662,037...96,774,683
Ensembl chr 5:96,525,267...96,779,595
JBrowse link
G CCND1 cyclin D1 IEP mRNA:increased expression:bone marrow (human) RGD PMID:22391157 RGD:11352824 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:9292526 RGD:11352271 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CD46 CD46 molecule IEP protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:16353080 RGD:11352810 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,057...207,795,513
Ensembl chr 1:207,752,057...207,795,513
JBrowse link
G CD79B CD79b molecule IEP protein:decreased expression:bone marrow, mononuclear cell (human) RGD PMID:21487112 RGD:11250414 NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,740...63,932,354
Ensembl chr17:63,928,740...63,932,354
JBrowse link
G CD86 CD86 molecule severity IEP protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human) RGD PMID:24283754 RGD:11354967 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G CDK6 cyclin dependent kinase 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24736461 NCBI chr 7:92,604,921...92,836,573
Ensembl chr 7:92,604,921...92,836,594
Ensembl chr 7:92,604,921...92,836,594
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A disease_progression
susceptibility
no_association
IAGP
EXP
IEP
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 9:21,967,752...21,995,324
Ensembl chr 9:21,967,753...21,995,301
JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon EXP CTD Direct Evidence: marker/mechanism CTD PMID:19684604 NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,304...23,119,616
JBrowse link
G CFB complement factor B IAGP DNA:missense mutation:p.R32Q b(human) RGD PMID:6958349 RGD:11041155 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,084
JBrowse link
G CREBBP CREB binding protein disease_progression IAGP DNA:mutations:multiple RGD PMID:25917266 RGD:11060149 NCBI chr16:3,725,054...3,880,727
Ensembl chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CRLF2 cytokine receptor like factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19838194 NCBI chr  Y:1,190,437...1,212,762
NCBI chr  X:1,190,437...1,212,762
Ensembl chr  X:1,187,549...1,212,723
JBrowse link
G CSF3 colony stimulating factor 3 treatment IDA RGD PMID:9250830 RGD:11039038 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 severity IEP RGD PMID:8562939 RGD:734840 NCBI chr15:75,674,322...75,712,848
Ensembl chr15:75,674,322...75,712,848
JBrowse link
G CYBA cytochrome b-245 alpha chain IEP mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:19222940 RGD:11040545 NCBI chr16:88,643,289...88,651,079
Ensembl chr16:88,643,289...88,651,054
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 susceptibility
no_association
IAGP 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 chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr15:74,748,845...74,756,607
Ensembl chr15:74,748,845...74,756,607
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
JBrowse link
G CYP2C8 cytochrome P450 family 2 subfamily C member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr10:95,036,772...95,069,497
Ensembl chr10:95,036,772...95,069,497
JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 susceptibility IAGP DNA:polymorphisms: :
DNA:SNP,deletion:splice junction,exon:1934G>A(human)
RGD PMID:11037802, PMID:19593802 RGD:11352820, RGD:11252111 NCBI chr22:42,126,499...42,130,810
Ensembl chr22:42,126,499...42,130,881
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11774269 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
JBrowse link
G CYP3A5 cytochrome P450 family 3 subfamily A member 5 disease_progression
susceptibility
IEP
IAGP
DNA:polymorphism: : RGD PMID:19650988, PMID:22215203 RGD:11353796, RGD:11353805 NCBI chr 7:99,648,194...99,679,996
Ensembl chr 7:99,648,194...99,679,998
JBrowse link
G DHFR dihydrofolate reductase disease_progression IAGP
IEP
DNA:polymorphisms, haplotype:promoter:
DNA:polymorphisms: :-317A>G, 829C>T (human)
RGD PMID:19861437, PMID:12972803, PMID:22969948, PMID:9226157 RGD:11039542, RGD:11039545, RGD:11039544, RGD:11039543 NCBI chr 5:80,626,226...80,654,983
Ensembl chr 5:80,626,226...80,654,983
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha treatment IAGP DNA:mutations:exon, intron:p.R882(human) RGD PMID:25242092 RGD:11041125 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
JBrowse link
G DNTT DNA nucleotidylexotransferase IEP protein:increased activity:peripheral blood,bone marrow: RGD PMID:7020399 RGD:8694149 NCBI chr10:96,304,434...96,338,564
Ensembl chr10:96,304,409...96,338,564
JBrowse link
G DPYD dihydropyrimidine dehydrogenase no_association
disease_progression
IAGP 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 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
JBrowse link
G DUX4 double homeobox 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27776115 NCBI chr 4:190,173,774...190,185,911
Ensembl chr 4:190,173,774...190,185,942
JBrowse link
G ENG endoglin disease_progression IEP RGD PMID:17572488 RGD:11041565 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G EPHX1 epoxide hydrolase 1 susceptibility
no_association
IAGP
EXP
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 1:225,810,124...225,845,563
Ensembl chr 1:225,810,092...225,845,563
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility IAGP 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 chr19:45,407,334...45,451,547
Ensembl chr19:45,407,333...45,478,828
Ensembl chr19:45,407,333...45,478,828
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit no_association IAGP DNA:missense mutations: :p.D312N, p.K751Q (human)
DNA:haplotype
RGD PMID:19101034, PMID:21987080 RGD:11252192, RGD:11340201 NCBI chr19:45,349,837...45,370,647
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G ERG ETS transcription factor ERG EXP CTD Direct Evidence: marker/mechanism CTD PMID:27776115 NCBI chr21:38,367,261...38,661,783
Ensembl chr21:38,380,027...38,661,780
JBrowse link
G ETV6 ETS variant transcription factor 6 IAGP
EXP
ClinVar Annotator: match by term: Acute lymphoid leukemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17255265 NCBI chr12:11,649,601...11,895,386
Ensembl chr12:11,649,674...11,895,377
Ensembl chr12:11,649,674...11,895,377
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISS OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr 7:148,807,374...148,884,344
Ensembl chr 7:148,807,383...148,884,321
JBrowse link
G F3 coagulation factor III, tissue factor IEP RGD PMID:8429686 RGD:11340211 NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759
JBrowse link
G FAS Fas cell surface death receptor disease_progression IEP protein:increased expression:CD34+ bone marrow cell RGD PMID:10500800, PMID:9711907 RGD:11049148, RGD:11049157 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FGA fibrinogen alpha chain IEP protein:increased expression:serum (human) RGD PMID:25317080 RGD:11040558 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,128...154,590,745
JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 susceptibility IAGP
EXP
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 chr13:28,003,274...28,100,587
Ensembl chr13:28,003,274...28,100,592
JBrowse link
G FPGS folylpolyglutamate synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25013492 NCBI chr 9:127,802,858...127,814,520
Ensembl chr 9:127,794,597...127,814,327
JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor IEP mRNA:increased expression:blood: RGD PMID:19360458 RGD:11040460 NCBI chr 9:132,945,531...132,991,697
Ensembl chr 9:132,944,000...132,991,687
JBrowse link
G GH1 growth hormone 1 treatment IDA RGD PMID:2494952 RGD:11352727 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839
JBrowse link
G GNB1 G protein subunit beta 1 susceptibility IAGP
EXP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute lymphoid leukemia
OMIM
CTD
ClinVar
PMID:25485910, PMID:27108799 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,891,117
JBrowse link
G GPI glucose-6-phosphate isomerase IEP RGD PMID:6589021 RGD:11051848 NCBI chr19:34,353,330...34,402,413
Ensembl chr19:34,359,480...34,402,413
JBrowse link
G GPX1 glutathione peroxidase 1 treatment IDA RGD PMID:17317918, PMID:24698347 RGD:11352774, RGD:11352812 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,176...49,358,358
JBrowse link
G GSR glutathione-disulfide reductase IEP RGD PMID:24191316 RGD:11059506 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
JBrowse link
G GSTM1 glutathione S-transferase mu 1 disease_progression
susceptibility
no_association
IAGP RGD PMID:10666194, PMID:14607752, PMID:12827651, PMID:15738600 RGD:10450829, RGD:10755410, RGD:10755409, RGD:10755321 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTP1 glutathione S-transferase pi 1 disease_progression
no_association
susceptibility
IAGP 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 chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G GSTT1 glutathione S-transferase theta 1 disease_progression
susceptibility
IAGP RGD PMID:10666194, PMID:14607752 RGD:10450829, RGD:10755410
G H1-2 H1.2 linker histone, cluster member susceptibility IAGP DNA:SNP, haplotype:enhancer: (rs807212) (human) RGD PMID:19806355 RGD:10755490 NCBI chr 6:26,055,740...26,056,470
Ensembl chr 6:26,055,787...26,056,428
Ensembl chr 6:26,055,787...26,056,428
JBrowse link
G HCK HCK proto-oncogene, Src family tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17344919 NCBI chr20:32,052,242...32,101,856
Ensembl chr20:32,052,197...32,101,856
Ensembl chr20:32,052,197...32,101,856
JBrowse link
G HDAC1 histone deacetylase 1 disease_progression IEP mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr 1:32,292,083...32,333,628
Ensembl chr 1:32,292,083...32,333,635
JBrowse link
G HDAC2 histone deacetylase 2 disease_progression IEP mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308
JBrowse link
G HDAC4 histone deacetylase 4 treatment IEP RGD PMID:23948281 RGD:9681454 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
JBrowse link
G HFE homeostatic iron regulator no_association IAGP 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 chr 6:26,087,347...26,098,343
Ensembl chr 6:26,087,281...26,098,343
JBrowse link
G HK1 hexokinase 1 IDA protein:decreased activity:platelet RGD PMID:21921332 RGD:11353881 NCBI chr10:69,269,991...69,401,882
Ensembl chr10:69,269,984...69,401,884
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP DNA:polymorphisms, haplotype:cds:HLA-DQA1*01 (human) RGD PMID:9744491 RGD:11041762 NCBI chr 6:32,637,406...32,654,846
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms, haplotypes:cds:multiple
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human)
RGD PMID:22434102, PMID:9744491 RGD:11041749, RGD:11041762 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HLF HLF transcription factor, PAR bZIP family member EXP CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr17:55,264,960...55,325,187
Ensembl chr17:55,264,960...55,325,187
JBrowse link
G HOXD4 homeobox D4 IAGP
EXP
ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15776434 NCBI chr 2:176,150,394...176,156,078
Ensembl chr 2:176,151,550...176,153,226
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IFNG interferon gamma susceptibility IAGP DNA:SNP: :rs2069727(human) RGD PMID:21067287 RGD:10755691 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP
EXP
ClinVar Annotator: match by term: LEUKEMIA, ACUTE LYMPHOCYTIC, SUSCEPTIBILITY TO, 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19684604 NCBI chr 7:50,303,453...50,405,101
Ensembl chr 7:50,304,068...50,405,101
JBrowse link
G IKZF2 IKAROS family zinc finger 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr 2:212,999,692...213,155,297
Ensembl chr 2:212,999,691...213,152,427
JBrowse link
G IKZF3 IKAROS family zinc finger 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr17:39,757,715...39,864,312
Ensembl chr17:39,757,718...39,864,312
JBrowse link
G IL10 interleukin 10 treatment IEP protein:decreased expression:blood RGD PMID:21653647, PMID:15860861 RGD:11049158, RGD:11049169 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IRF4 interferon regulatory factor 4 IAGP DNA:SNP:intron:rs12203592 (human) RGD PMID:19897031 RGD:11526162 NCBI chr 6:391,752...411,443
Ensembl chr 6:391,752...411,443
JBrowse link
G ITPA inosine triphosphatase treatment
no_association
IAGP DNA:SNPs:exon:94C>A, 138G>A (human)
DNA:SNP:intron
RGD PMID:22009189, PMID:22009189 RGD:10766474, RGD:10766474 NCBI chr20:3,208,676...3,227,449
Ensembl chr20:3,208,868...3,223,870
JBrowse link
G KDM2B lysine demethylase 2B IEP mRNA:increased expression:bone marrow (human) RGD PMID:21310926 RGD:9588255 NCBI chr12:121,402,288...121,582,268
Ensembl chr12:121,429,096...121,581,023
JBrowse link
G KDM3B lysine demethylase 3B IEP protein:increased expression:bone marrow, mononuclear cell (human) RGD PMID:22615488 RGD:9586728 NCBI chr 5:138,352,685...138,437,027
Ensembl chr 5:138,352,685...138,437,028
JBrowse link
G KDM6A lysine demethylase 6A severity IAGP DNA:mutations:cds:multiple (human) RGD PMID:22377896 RGD:9684944 NCBI chr  X:44,873,182...45,112,779
Ensembl chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KMT2A lysine methyltransferase 2A EXP CTD Direct Evidence: marker/mechanism CTD PMID:24736461, PMID:25730765 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,490...118,526,832
JBrowse link
G KRAS KRAS proto-oncogene, GTPase disease_progression IAGP RGD PMID:17910045, PMID:25917266 RGD:11060148, RGD:11060149 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LMO2 LIM domain only 2 ISS OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr11:33,858,576...33,892,076
Ensembl chr11:33,858,576...33,892,076
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin susceptibility IAGP DNA:polymorphisms:cds:p.E148Q,M680I(human) RGD PMID:22942567 RGD:11531121 NCBI chr16:3,242,027...3,256,776
Ensembl chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MTHFR methylenetetrahydrofolate reductase disease_progression
treatment
IAGP
EXP
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 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase disease_progression
susceptibility
no_association
IAGP 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 chr 1:236,794,304...236,903,981
Ensembl chr 1:236,795,292...236,921,278
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility IAGP
EXP
DNA:haplotype:cds:
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs3776455(human)
CTD PMID:17136115, PMID:17136115, PMID:23940529 RGD:11531133, RGD:11531135 NCBI chr 5:7,851,186...7,901,124
Ensembl chr 5:7,851,186...7,906,025
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor disease_progression IEP RGD PMID:25784651 RGD:11532748 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility
no_association
IAGP
EXP
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 8:18,386,585...18,401,219
Ensembl chr 8:18,391,282...18,401,218
JBrowse link
G NBN nibrin susceptibility IAGP
EXP
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 8:89,933,331...89,984,698
Ensembl chr 8:89,933,336...90,003,228
Ensembl chr 8:89,933,336...90,003,228
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility
disease_progression
IAGP 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 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NOTCH3 notch receptor 3 ISS OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 IAGP
EXP
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 chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668
JBrowse link
G NRAS NRAS proto-oncogene, GTPase disease_progression IAGP DNA:missense mutation:cds: RGD PMID:25204082 RGD:11535045 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 EXP CTD Direct Evidence: therapeutic CTD PMID:24076604 NCBI chr 4:1,871,393...1,982,207
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II EXP CTD Direct Evidence: marker/mechanism CTD PMID:23377183 NCBI chr10:103,088,017...103,193,301
Ensembl chr10:103,087,185...103,277,605
Ensembl chr10:103,087,185...103,277,605
JBrowse link
G NUP214 nucleoporin 214 susceptibility IAGP
EXP
CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 9:131,125,586...131,234,663
Ensembl chr 9:131,125,586...131,234,663
JBrowse link
G P2RY8 P2Y receptor family member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19838194 NCBI chr  X:1,462,576...1,537,488
NCBI chr  Y:1,462,576...1,537,488
Ensembl chr  X:1,462,581...1,537,185
JBrowse link
G PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr 8:80,967,810...81,112,068
Ensembl chr 8:80,967,810...81,112,068
JBrowse link
G PAX5 paired box 5 susceptibility IAGP
EXP
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 9:36,833,269...37,034,268
Ensembl chr 9:36,833,269...37,034,268
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:15887099, PMID:18602922, PMID:20205264, PMID:22120844, PMID:22577899, PMID:23012243, PMID:23652311, PMID:24033266, PMID:24362816, PMID:24728189, PMID:24728327, PMID:25512458, PMID:25741868, PMID:25856668, PMID:25980754, PMID:26116798, PMID:26318770, PMID:26467025, PMID:26681312, PMID:27017610, PMID:27037742, PMID:28492532, PMID:28562508, PMID:30155321 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,106
JBrowse link
G PON1 paraoxonase 1 susceptibility IAGP DNA:missense mutations:cds:p.L55M (rs854560), p.Q192R (rs662) (human) RGD PMID:22976839 RGD:11552580 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator severity IEP mRNA:increased expression:blood (human) RGD PMID:27275197 RGD:11535025 NCBI chr22:22,547,701...22,559,294
Ensembl chr22:22,547,701...22,559,361
JBrowse link
G PRDM14 PR/SET domain 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19043588 NCBI chr 8:70,051,613...70,071,252
Ensembl chr 8:70,051,651...70,071,693
JBrowse link
G PTEN phosphatase and tensin homolog ISS OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G RB1 RB transcriptional corepressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RUNX1 RUNX family transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr21:34,787,801...35,049,334
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G SLC19A1 solute carrier family 19 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr21:45,502,517...45,563,140
Ensembl chr21:45,493,572...45,573,365
JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E severity IEP mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) RGD PMID:23915977 RGD:10768836 NCBI chr 1:203,861,599...203,871,152
Ensembl chr 1:203,861,599...203,871,152
JBrowse link
G TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor susceptibility IAGP
EXP
CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 1:47,216,290...47,232,389
Ensembl chr 1:47,216,290...47,232,220
JBrowse link
G TAL2 TAL bHLH transcription factor 2 susceptibility IAGP
EXP
CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 9:105,662,457...105,663,124
Ensembl chr 9:105,662,457...105,663,124
JBrowse link
G TCF3 transcription factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,290...1,652,615
JBrowse link
G TCN2 transcobalamin 2 IEP protein:altered activity:plasma: RGD PMID:8754152 RGD:11059889 NCBI chr22:30,607,174...30,627,271
Ensembl chr22:30,607,003...30,627,271
JBrowse link
G TERT telomerase reverse transcriptase IAGP
IEP
DNA:SNPs:promoter, introns:g.1296486C>T, g.12866516A>C, g.1279790G>A (rs2735940, rs2736100, rs10069690) (human) RGD PMID:23066086, PMID:15621763 RGD:11038654, RGD:11038667 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TM9SF2 transmembrane 9 superfamily member 2 IEP mRNA:increased expression:bone marrow, mononuclear cells (human) RGD PMID:12730115 RGD:2317244 NCBI chr13:99,501,472...99,564,048
Ensembl chr13:99,446,311...99,564,048
JBrowse link
G TP53 tumor protein p53 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr17:7,668,402...7,687,550
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TPMT thiopurine S-methyltransferase treatment
no_association
IAGP 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 chr 6:18,128,311...18,155,169
Ensembl chr 6:18,128,311...18,155,077
JBrowse link
G TYMS thymidylate synthetase treatment IAGP DNA:repeats: : rs347430033(human) RGD PMID:25007187 RGD:11080979 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
JBrowse link
G VPREB1 V-set pre-B cell surrogate light chain 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr22:22,244,786...22,245,515
Ensembl chr22:22,244,780...22,245,515
JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility
no_association
IAGP
EXP
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 chr19:43,543,311...43,575,527
Ensembl chr19:43,543,040...43,580,473
Ensembl chr19:43,543,040...43,580,473
JBrowse link
Acute Lymphoblastic Leukemia, with Lymphomatous Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:10988075, PMID:11423618, PMID:11853795, PMID:11861307, PMID:11964322, PMID:12130516, PMID:12399961, PMID:12623848, PMID:14559829, PMID:14745431, PMID:15194504, PMID:15256422, PMID:15381060, PMID:18615627, PMID:19466505, PMID:19652056, PMID:20367437, PMID:20512393, PMID:20537386, PMID:20697894, PMID:20963643, PMID:21505103, PMID:21562040, PMID:21762985, PMID:21872826, PMID:21895409, PMID:22306673, PMID:22772060, PMID:22870928, PMID:23355941, PMID:23540562, PMID:23676790, PMID:24236021, PMID:24456693, PMID:25157968, PMID:25686603 NCBI chr 9:130,713,881...130,887,675
Ensembl chr 9:130,713,016...130,887,675
JBrowse link
G CRLF2 cytokine receptor like factor 2 IAGP ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:19907440, PMID:19965641, PMID:20018760, PMID:22368272 NCBI chr  Y:1,190,437...1,212,762
NCBI chr  X:1,190,437...1,212,762
Ensembl chr  X:1,187,549...1,212,723
JBrowse link
G CYP2B6 cytochrome P450 family 2 subfamily B member 6 susceptibility IAGP DNA:polymorphism:G15631T RGD PMID:19144407 RGD:6480472 NCBI chr19:40,991,282...41,018,398
Ensembl chr19:40,991,282...41,018,398
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:25705862, PMID:26619011, PMID:26942290 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G IL7R interleukin 7 receptor IAGP ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:22897847, PMID:22955920 NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603
JBrowse link
G INSL6 insulin like 6 IAGP ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:18805579, PMID:19470474, PMID:20585391, PMID:22368270, PMID:22955920 NCBI chr 9:4,992,409...5,185,707
Ensembl chr 9:5,123,880...5,185,647
JBrowse link
G JAK1 Janus kinase 1 IAGP ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:16239216, PMID:19139102, PMID:19470474, PMID:19838194, PMID:20167706, PMID:21436584, PMID:21680795, PMID:22955920, PMID:25356970 NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,229...65,067,754
JBrowse link
G JAK2 Janus kinase 2 IAGP ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:18805579, PMID:19470474, PMID:20585391, PMID:22368270, PMID:22955920 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,128,183
Ensembl chr 9:4,984,390...5,128,183
JBrowse link
G JAK3 Janus kinase 3 IAGP ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:10982185, PMID:16843266, PMID:18270328, PMID:20132407, PMID:20372971, PMID:21599579, PMID:21821710, PMID:24728327, PMID:25157968, PMID:28492532 NCBI chr19:17,824,782...17,848,071
Ensembl chr19:17,824,780...17,848,071
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 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to ADA deficiency
ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset
ClinVar
OMIM
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 chr20:44,619,522...44,651,699
Ensembl chr20:44,619,522...44,652,233
JBrowse link
G MYH7 myosin heavy chain 7 IAGP 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 chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G RAG1 recombination activating 1 IAGP ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:11133745, PMID:21664875, PMID:24290284, PMID:24406074, PMID:26476733, PMID:26596586, PMID:28492532, PMID:30290665 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,709...36,593,156
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16497974 NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636
JBrowse link
G BMP6 bone morphogenetic protein 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18688853 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728
JBrowse link
G CARD11 caspase recruitment domain family member 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 7:2,906,142...3,043,867
Ensembl chr 7:2,906,141...3,043,945
JBrowse link
G CCR4 C-C motif chemokine receptor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 3:32,951,555...32,956,349
Ensembl chr 3:32,951,644...32,956,349
JBrowse link
G CCR7 C-C motif chemokine receptor 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr17:40,553,769...40,565,472
Ensembl chr17:40,553,769...40,565,472
JBrowse link
G CD28 CD28 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 2:203,706,509...203,739,756
Ensembl chr 2:203,706,475...203,738,912
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chr 3:119,524,293...119,559,614
Ensembl chr 3:119,524,293...119,559,614
JBrowse link
G CD86 CD86 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G CSNK1A1 casein kinase 1 alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 5:149,492,982...149,551,439
Ensembl chr 5:149,492,982...149,551,471
JBrowse link
G CSNK2A1 casein kinase 2 alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr20:472,498...543,790
Ensembl chr20:472,498...543,835
JBrowse link
G CSNK2B casein kinase 2 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 6:31,666,080...31,670,067
Ensembl chr 6:31,665,236...31,670,343
Ensembl chr 6:31,665,236...31,670,343
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,867,771...203,873,965
JBrowse link
G FAS Fas cell surface death receptor susceptibility IAGP
IEP
DNA:polymorphism:promoter: -670 G>A(human)
protein:increased expression:peripheral blood mononuclear cell:
RGD PMID:17962369, PMID:7513372 RGD:11049147, RGD:11049453 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FOXP3 forkhead box P3 disease_progression EXP
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:23962110, PMID:23797717 RGD:38456007 NCBI chr  X:49,250,436...49,264,932
Ensembl chr  X:49,250,438...49,270,477
Ensembl chr  X:49,250,438...49,270,477
JBrowse link
G FYN FYN proto-oncogene, Src family tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 6:111,660,332...111,873,452
Ensembl chr 6:111,660,332...111,873,452
JBrowse link
G GATA3 GATA binding protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr10:8,045,420...8,075,198
Ensembl chr10:8,045,378...8,075,198
JBrowse link
G GPR183 G protein-coupled receptor 183 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr13:99,294,273...99,307,399
Ensembl chr13:99,294,539...99,307,399
JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 7:26,189,920...26,200,775
Ensembl chr 7:26,173,057...26,201,529
JBrowse link
G ICOS inducible T cell costimulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
JBrowse link
G IFNA1 interferon alpha 1 EXP CTD Direct Evidence: therapeutic CTD PMID:20370541 NCBI chr 9:21,440,439...21,441,316
Ensembl chr 9:21,440,439...21,441,316
JBrowse link
G IFNA2 interferon alpha 2 EXP CTD Direct Evidence: therapeutic CTD PMID:12560223, PMID:17077332 NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398
JBrowse link
G IFNG interferon gamma treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:23962110, PMID:8800741 RGD:10755707 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IKZF2 IKAROS family zinc finger 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 2:212,999,692...213,155,297
Ensembl chr 2:212,999,691...213,152,427
JBrowse link
G IL10 interleukin 10 IEP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:23962110, PMID:8704212 RGD:11049460 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL2 interleukin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL4 interleukin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL5 interleukin 5 disease_progression IEP protein:increased expression:serum RGD PMID:16425276 RGD:11354942 NCBI chr 5:132,539,194...132,556,864
Ensembl chr 5:132,541,445...132,556,838
JBrowse link
G IL6 interleukin 6 IEP protein:increased expression:serum (human) RGD PMID:10374863 RGD:11060275 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IRF4 interferon regulatory factor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 6:391,752...411,443
Ensembl chr 6:391,752...411,443
JBrowse link
G JAK3 Janus kinase 3 IAGP DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) RGD PMID:21821710 RGD:11531131 NCBI chr19:17,824,782...17,848,071
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G MYB MYB proto-oncogene, transcription factor disease_progression IEP mRNA:splice variants:CD4+ T cell: RGD PMID:27307595 RGD:11532670 NCBI chr 6:135,181,308...135,219,172
Ensembl chr 6:135,181,308...135,219,173
JBrowse link
G NOTCH1 notch receptor 1 IAGP DNA:mutations:multiple (human) RGD PMID:16707600 RGD:1580759 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G NRAS NRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:21586752 RGD:11535055 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G PLCG1 phospholipase C gamma 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr20:41,137,519...41,177,626
Ensembl chr20:41,136,960...41,196,801
JBrowse link
G PRKCB protein kinase C beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611
JBrowse link
G STAT3 signal transducer and activator of transcription 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24090995 NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,482
Ensembl chr17:42,313,324...42,388,482
JBrowse link
G TAL2 TAL bHLH transcription factor 2 IAGP RGD PMID:1763056 RGD:1599285 NCBI chr 9:105,662,457...105,663,124
Ensembl chr 9:105,662,457...105,663,124
JBrowse link
G TERF2 telomeric repeat binding factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17643074 NCBI chr16:69,355,567...69,386,007
Ensembl chr16:69,355,567...69,408,571
JBrowse link
G TLX1 T cell leukemia homeobox 1 IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:1717256, PMID:1683261 RGD:1599439 NCBI chr10:101,130,773...101,137,789
Ensembl chr10:101,131,300...101,137,789
JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 9:114,893,343...114,930,674
Ensembl chr 9:114,893,343...114,930,595
JBrowse link
G TP53 tumor protein p53 IEA GAD PMID:15118671 RGD:1331525 NCBI chr17:7,668,402...7,687,550
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TP73 tumor protein p73 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
JBrowse link
G VAV1 vav guanine nucleotide exchange factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr19:6,772,708...6,857,366
Ensembl chr19:6,772,708...6,857,366
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 IAGP
EXP
DNA:splice-site mutation
CTD Direct Evidence: marker/mechanism
CTD PMID:10583958 RGD:1600518 NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,191,702...96,271,587
Ensembl chr10:96,191,702...96,271,587
JBrowse link
G BTK Bruton tyrosine kinase susceptibility IAGP
EXP
DNA:insertions, point mutations
CTD Direct Evidence: therapeutic
ClinVar Annotator: match by term: Agammaglobulinemia
CTD
ClinVar
PMID:10352268, PMID:15142874, PMID:8162018 RGD:1600526 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,447...101,390,796
JBrowse link
G CD19 CD19 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr16:28,931,735...28,939,347
Ensembl chr16:28,931,965...28,939,342
Ensembl chr16:28,931,965...28,939,342
JBrowse link
G CD79A CD79a molecule EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
JBrowse link
G CD79B CD79b molecule EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,740...63,932,354
Ensembl chr17:63,928,740...63,932,354
JBrowse link
G IGHM immunoglobulin heavy constant mu EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218
JBrowse link
G IGLL1 immunoglobulin lambda like polypeptide 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302
JBrowse link
G LRRC8A leucine rich repeat containing 8 VRAC subunit A IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:14660746 RGD:1599837 NCBI chr 9:128,882,133...128,918,042
Ensembl chr 9:128,882,133...128,918,039
Ensembl chr 9:128,882,133...128,918,039
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IEA OMIM:601495 | OMIM:612692 | OMIM:613500 | OMIM:613501 | OMIM:613502 | OMIM:613506 | OMIM:615214 MouseDO NCBI chr 5:68,215,737...68,301,821
Ensembl chr 5:68,215,756...68,301,821
JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 IAGP ClinVar Annotator: match by term: Hypogammaglobulinemia ClinVar PMID:25741868, PMID:28782633 NCBI chr 3:128,052,437...128,071,683
Ensembl chr 3:128,051,641...128,071,683
JBrowse link
G TCF3 transcription factor 3 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,290...1,652,615
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 IAGP OMIM NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218
JBrowse link
Agammaglobulinemia 2, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGLL1 immunoglobulin lambda like polypeptide 1 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive OMIM
ClinVar
PMID:9419212, PMID:25502423, PMID:25741868, PMID:28492532 NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302
JBrowse link
Agammaglobulinemia 3, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD79A CD79a molecule IAGP ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive OMIM
ClinVar
PMID:10525050, PMID:11920841, PMID:24728327, PMID:28492532 NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
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 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar
OMIM
PMID:10583958, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,191,702...96,271,587
Ensembl chr10:96,191,702...96,271,587
JBrowse link
G ZNF518A zinc finger protein 518A IAGP ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr10:96,128,906...96,205,291
Ensembl chr10:96,129,715...96,205,288
JBrowse link
agammaglobulinemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRRC8A leucine rich repeat containing 8 VRAC subunit A IAGP ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant OMIM
ClinVar
PMID:14660746, PMID:28492532 NCBI chr 9:128,882,133...128,918,042
Ensembl chr 9:128,882,133...128,918,039
Ensembl chr 9:128,882,133...128,918,039
JBrowse link
Agammaglobulinemia 6, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD79B CD79b molecule IAGP ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive ClinVar
OMIM
PMID:17675462, PMID:17709424, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,740...63,932,354
Ensembl chr17:63,928,740...63,932,354
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 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive ClinVar
OMIM
PMID:22351933, PMID:25133428 NCBI chr 5:68,215,737...68,301,821
Ensembl chr 5:68,215,756...68,301,821
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 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant ClinVar
OMIM
PMID:21693761, PMID:24216514, PMID:25741868, PMID:28492532 NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,290...1,652,615
JBrowse link
Agammaglobulinemia, non-Bruton type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase IAGP 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:101,349,450...101,390,796
Ensembl chr  X:101,349,447...101,390,796
JBrowse link
G CD79A CD79a molecule IAGP ClinVar Annotator: match by term: Agammaglobulinemia, non-Bruton type ClinVar PMID:25741868 NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
JBrowse link
G IGH immunoglobulin heavy locus IAGP ClinVar Annotator: match by term: Agammaglobulinemia, non-Bruton type ClinVar PMID:8890099, PMID:12370281 NCBI chr14:105,586,437...106,879,844 JBrowse link
G IGHM immunoglobulin heavy constant mu IAGP ClinVar Annotator: match by term: Agammaglobulinemia, non-Bruton type ClinVar PMID:2115996, PMID:8890099, PMID:12370281 NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218
JBrowse link
anaplastic large cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase TAS
EXP
DNA:translocation:fusion_protein
CTD Direct Evidence: marker/mechanism
CTD PMID:16151469, PMID:19503098, PMID:21345110, PMID:22155737, PMID:22920921, PMID:22968692, PMID:15659732 RGD:1600902 NCBI chr 2:29,190,992...29,921,589
Ensembl chr 2:29,192,774...29,921,586
JBrowse link
G HSP90AA1 heat shock protein 90 alpha family class A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17157164 NCBI chr14:102,080,742...102,139,749
Ensembl chr14:102,080,738...102,139,699
Ensembl chr14:102,080,738...102,139,699
JBrowse link
G IRF4 interferon regulatory factor 4 IAGP DNA:translocation RGD PMID:18987657 RGD:11526155 NCBI chr 6:391,752...411,443
Ensembl chr 6:391,752...411,443
JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit IEP RGD PMID:12145210 RGD:1549449 NCBI chr19:12,791,486...12,793,315
Ensembl chr19:12,791,486...12,793,315
JBrowse link
G NPM1 nucleophosmin 1 TAS DNA:translocation:fusion_protein RGD PMID:15659732 RGD:1600902 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,137
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:17261581 NCBI chr11:65,653,601...65,662,946
Ensembl chr11:65,653,597...65,663,090
JBrowse link
G STAT3 signal transducer and activator of transcription 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,482
Ensembl chr17:42,313,324...42,388,482
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10908157, PMID:17261581 NCBI chr 1:12,063,303...12,144,213
Ensembl chr 1:12,063,303...12,144,207
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
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 IAGP ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr10:88,935,074...88,991,397
Ensembl chr10:88,935,074...88,991,339
JBrowse link
G ANKRD22 ankyrin repeat domain 22 IAGP ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr10:88,819,896...88,851,844
Ensembl chr10:88,819,896...88,851,844
JBrowse link
G CASP10 caspase 10 IAGP ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar PMID:11973654, PMID:27577878, PMID:27872624, PMID:28492532 NCBI chr 2:201,182,885...201,229,406
Ensembl chr 2:201,182,898...201,229,406
Ensembl chr 2:201,182,898...201,229,406
JBrowse link
G CASP8 caspase 8 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:201,233,443...201,287,711
Ensembl chr 2:201,233,443...201,287,711
JBrowse link
G CH25H cholesterol 25-hydroxylase IAGP ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr10:89,205,629...89,207,317
Ensembl chr10:89,205,629...89,207,317
JBrowse link
G FAS Fas cell surface death receptor ISO
IAGP
EXP
IDA
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:555C>T,889A>G(human)
ClinVar
CTD
OMIM
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:10497009, PMID:10200300, PMID:9028321 RGD:12903956, RGD:12904015, RGD:12903983 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FAS-AS1 FAS antisense RNA 1 IAGP ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr10:88,991,422...88,992,975 JBrowse link
G FASLG Fas ligand IAGP ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
OMIM
PMID:17605793, PMID:25741868, PMID:28492532 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G IFIT2 interferon induced protein with tetratricopeptide repeats 2 IAGP ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr10:89,302,046...89,309,271
Ensembl chr10:89,283,694...89,309,271
JBrowse link
G IFIT3 interferon induced protein with tetratricopeptide repeats 3 IAGP ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr10:89,327,997...89,340,968
Ensembl chr10:89,327,997...89,340,971
JBrowse link
G LIPA lipase A, lysosomal acid type IAGP ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr10:89,213,571...89,251,926
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G LIPM lipase family member M IAGP ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr10:88,802,730...88,822,022
Ensembl chr10:88,802,730...88,820,546
JBrowse link
G LIPN lipase family member N IAGP ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr10:88,757,226...88,783,662
Ensembl chr10:88,759,982...88,779,626
Ensembl chr10:88,759,982...88,779,626
JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:21376533 RGD:13204846 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NRAS NRAS proto-oncogene, GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G STAMBPL1 STAM binding protein like 1 IAGP ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr10:88,879,368...88,923,502
Ensembl chr10:88,879,734...88,975,153
JBrowse link
autoimmune lymphoproliferative syndrome type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP10 caspase 10 IAGP ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 2A
ClinVar
OMIM
PMID:10412980, PMID:16446975, PMID:17999750, PMID:21382177, PMID:24033266, PMID:25741868, PMID:27535533, PMID:27577878, PMID:27799292, PMID:27872624, PMID:28492532 NCBI chr 2:201,182,885...201,229,406
Ensembl chr 2:201,182,898...201,229,406
Ensembl chr 2:201,182,898...201,229,406
JBrowse link
autoimmune lymphoproliferative syndrome type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP10 caspase 10 IAGP ClinVar Annotator: match by term: Caspase-8 deficiency ClinVar PMID:28492532 NCBI chr 2:201,182,885...201,229,406
Ensembl chr 2:201,182,898...201,229,406
Ensembl chr 2:201,182,898...201,229,406
JBrowse link
G CASP8 caspase 8 IAGP ClinVar Annotator: match by term: Caspase-8 deficiency
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
OMIM
PMID:12353035, PMID:15601643, PMID:15998955, PMID:17293864, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30267714 NCBI chr 2:201,233,443...201,287,711
Ensembl chr 2:201,233,443...201,287,711
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 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 9
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III
ClinVar
OMIM
PMID:11976687, PMID:23319571, PMID:23430113, PMID:23666743, PMID:25741868, PMID:28492532, PMID:30257684 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
autoimmune lymphoproliferative syndrome type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV
ClinVar
OMIM
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 chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder ClinVar
OMIM
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 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAS Fas cell surface death receptor IAGP ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1a ClinVar PMID:4165068, PMID:4852259, PMID:7539157, PMID:7540117, PMID:8929361, PMID:9028321, PMID:9821419, PMID:9927496, PMID:10090885, PMID:10200300, PMID:10515860, PMID:10709732, PMID:15459302, PMID:20935634, PMID:21490157, PMID:23407489, PMID:26942442, PMID:28492532 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FASLG Fas ligand IAGP ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1b ClinVar PMID:8787672, PMID:25741868 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD28 CD28 molecule IAGP ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V ClinVar PMID:28492532, PMID:29729943, PMID:30326257 NCBI chr 2:203,706,509...203,739,756
Ensembl chr 2:203,706,475...203,738,912
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V
ClinVar Annotator: match by term: CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION
ClinVar
OMIM
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 2:203,867,771...203,873,965
Ensembl chr 2:203,867,771...203,873,965
JBrowse link
G ICOS inducible T cell costimulator IAGP ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V ClinVar PMID:28492532, PMID:29729943, PMID:30326257 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
JBrowse link
G RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 IAGP ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V ClinVar PMID:28492532, PMID:29729943, PMID:30326257 NCBI chr 2:203,433,682...203,535,322
Ensembl chr 2:203,394,345...203,535,335
JBrowse link
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNFRSF11A TNF receptor superfamily member 11a IAGP ClinVar Annotator: match by term: Osteopetrosis autosomal recessive 7
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7
ClinVar
OMIM
PMID:15231021, PMID:18606301, PMID:19940926, PMID:28492532 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
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 IAGP DNA:SNPs,haplotype: :rs1481012,rs2231142(human) RGD PMID:21918980 RGD:11080977 NCBI chr 4:88,090,264...88,231,626
Ensembl chr 4:88,090,150...88,231,628
JBrowse link
G ACOXL acyl-CoA oxidase like EXP CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 2:110,732,539...111,120,610
Ensembl chr 2:110,732,573...111,118,548
Ensembl chr 2:110,732,573...111,118,548
JBrowse link
G AICDA activation induced cytidine deaminase disease_progression IEP RGD PMID:21133730 RGD:11039455 NCBI chr12:8,602,170...8,612,970
Ensembl chr12:8,602,170...8,612,867
JBrowse link
G APOE apolipoprotein E disease_progression IAGP RGD PMID:18784741 RGD:11040549 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G ATM ATM serine/threonine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17968022 NCBI chr11:108,222,484...108,369,102
Ensembl chr11:108,222,832...108,369,102
Ensembl chr11:108,222,832...108,369,102
JBrowse link
G BCL11A BAF chromatin remodeling complex subunit BCL11A IAGP DNA:translocation:5' utr: (human) RGD PMID:11719382 RGD:11100004 NCBI chr 2:60,450,520...60,553,654
Ensembl chr 2:60,450,520...60,554,467
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment
severity
no_association
IMP
EXP
IEP
IAGP
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 chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BMF Bcl2 modifying factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr15:40,087,890...40,108,879
Ensembl chr15:40,087,890...40,108,892
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar PMID:12068308, PMID:14612909, PMID:14679157, PMID:14688025, PMID:17096326, PMID:17119447, PMID:17311103, PMID:18368129, PMID:18794803, PMID:19383316, PMID:19537845, PMID:19913317, PMID:20350999, PMID:20619739, PMID:21129611, PMID:22310681, PMID:23352452, PMID:24033266, PMID:25157968, PMID:26619011, PMID:28492532, PMID:29595366 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BTK Bruton tyrosine kinase treatment IMP
IAGP
ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:24869598, PMID:28492532, PMID:23045577 RGD:11040699 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,447...101,390,796
JBrowse link
G C11orf21 chromosome 11 open reading frame 21 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr11:2,295,628...2,303,140
Ensembl chr11:2,295,645...2,303,049
Ensembl chr11:2,295,645...2,303,049
JBrowse link
G CBL Cbl proto-oncogene severity IEP
IDA
mRNA,protein:increased expression:CD5+ B cell:
DNA:hypophosphorylation:CD5+ B cell:
RGD PMID:17804547, PMID:17804547 RGD:11038803, RGD:11038803 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
Ensembl chr11:119,206,298...119,313,926
JBrowse link
G CCDC50 coiled-coil domain containing 50 IDA RGD PMID:19641524 RGD:9685139 NCBI chr 3:191,329,082...191,398,659
Ensembl chr 3:191,329,085...191,398,659
JBrowse link
G CD40 CD40 molecule IMP RGD PMID:20616215 RGD:5490532 NCBI chr20:46,118,242...46,129,858
Ensembl chr20:46,118,278...46,129,863
JBrowse link
G CD40LG CD40 ligand IMP mouse-human chimeric gene in human RGD PMID:20882050 RGD:11352235 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CD5 CD5 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr11:61,093,963...61,127,852
Ensembl chr11:61,102,489...61,127,852
JBrowse link
G CD79B CD79b molecule IEP protein:decreased expression:B lymphocyte, cell surface (human) RGD PMID:9269755 RGD:11250403 NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,740...63,932,354
Ensembl chr17:63,928,740...63,932,354
JBrowse link
G CD86 CD86 molecule severity IEP protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25179679 RGD:11354969 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G CDKN2B-AS1 CDKN2B antisense RNA 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 9:21,994,791...22,121,097
Ensembl chr 9:21,994,139...22,128,103
JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr15:82,543,201...82,648,795
Ensembl chr15:82,543,201...82,648,861
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IEP protein:increased expression:T cell RGD PMID:16094420, PMID:15914560 RGD:11344923, RGD:11352246 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,867,771...203,873,965
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IEP RGD PMID:18077792 RGD:11251735 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689
JBrowse link
G DNMT3B DNA methyltransferase 3 beta IEP mRNA:decreased expression: B cell RGD PMID:15467427 RGD:9589146 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,356
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit severity IAGP DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:22739018, PMID:19484764 RGD:11252203, RGD:11252204 NCBI chr19:45,349,837...45,370,647
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr 2:241,356,285...241,494,841
Ensembl chr 2:241,356,285...241,494,841
JBrowse link
G FAS Fas cell surface death receptor disease_progression IEP RGD PMID:12901972 RGD:11049461 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:25741868, PMID:26619011 NCBI chr 4:152,320,544...152,536,873
Ensembl chr 4:152,320,544...152,536,092
JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa no_association IAGP DNA:SNP:exon:p.F158V (rs396991) (human) RGD PMID:14563637 RGD:11352260 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,737
JBrowse link
G GNAS GNAS complex locus disease_progression IAGP DNA:polymorphism:393T>C (human) RGD PMID:17020971 RGD:1601379 NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:12835555, PMID:16329078, PMID:16372351, PMID:16835863, PMID:17211612, PMID:17384584, PMID:18042262, PMID:19213030, PMID:19255327, PMID:19773371, PMID:20859122, PMID:21438134, PMID:21495179, PMID:21850009, PMID:22256804, PMID:22499344, PMID:22683711, PMID:22726224, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29493581, PMID:168335863 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,287
JBrowse link
G ICAM1 intercellular adhesion molecule 1 severity IEP RGD PMID:7658704 RGD:11354983 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IFNG interferon gamma susceptibility IAGP DNA:polymorphism: :847A>T(human) RGD PMID:19757192 RGD:10755703 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IGHV3-21 immunoglobulin heavy variable 3-21 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15817677 NCBI chr14:106,235,062...106,235,515
Ensembl chr14:106,235,064...106,235,594
JBrowse link
G IL10 interleukin 10 disease_progression
no_association
IEP
IAGP
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 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL19 interleukin 19 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,981
JBrowse link
G IL1A interleukin 1 alpha IAGP RGD PMID:19074885 RGD:11051968 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL1B interleukin 1 beta severity IAGP
IEP
DNA:SNP:promoter:-511C>T (human)
protein:decreased expression:plasma:
RGD PMID:18271063, PMID:10870116 RGD:11051967, RGD:11522755 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist IEP protein:decreased expression:plasma: RGD PMID:10870116 RGD:11522755 NCBI chr 2:113,099,365...113,134,016
Ensembl chr 2:113,107,214...113,134,016
JBrowse link
G IL6 interleukin 6 IEP
EXP
protein:increased expression:plasma:
CTD Direct Evidence: marker/mechanism
CTD PMID:18006695, PMID:10870116 RGD:11522755 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IRF4 interferon regulatory factor 4 disease_progression IEP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:18758461, PMID:12393648, PMID:12079517 RGD:11526160, RGD:11530024 NCBI chr 6:391,752...411,443
Ensembl chr 6:391,752...411,443
JBrowse link
G ITGA4 integrin subunit alpha 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21093051 NCBI chr 2:181,457,205...181,538,940
Ensembl chr 2:181,457,202...181,538,940
JBrowse link
G KLRC4 killer cell lectin like receptor C4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,382...10,409,757
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:2278970, PMID:3122217, PMID:12460918, PMID:15696205, PMID:16361624, PMID:16434492, PMID:16618717, PMID:18316791, PMID:18794081, PMID:19075190, PMID:19114683, PMID:19679400, PMID:20921462, PMID:20921465, PMID:21228335, PMID:22407852, PMID:22722830, PMID:23325582, PMID:25157968, PMID:26619011 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LEF1 lymphoid enhancer binding factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 4:108,047,548...108,168,932
Ensembl chr 4:108,047,545...108,168,956
JBrowse link
G LILRA4 leukocyte immunoglobulin like receptor A4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr19:54,333,185...54,339,162
Ensembl chr19:54,333,185...54,339,162
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:12835555, PMID:16329078, PMID:16372351, PMID:16835863, PMID:17211612, PMID:17384584, PMID:18042262, PMID:19213030, PMID:19255327, PMID:19773371, PMID:20859122, PMID:21438134, PMID:21495179, PMID:21850009, PMID:22256804, PMID:22499344, PMID:22683711, PMID:22726224, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29493581, PMID:168335863 NCBI chr11:518,967...554,916
Ensembl chr11:537,527...554,912
JBrowse link
G MIR143 microRNA 143 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr 5:149,428,918...149,429,023
Ensembl chr 5:149,428,918...149,429,023
JBrowse link
G MIR145 microRNA 145 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733
JBrowse link
G MS4A1 membrane spanning 4-domains A1 IDA RGD PMID:19911856 RGD:2316994 NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,752...60,470,760
Ensembl chr11:60,455,752...60,470,760
JBrowse link
G MTHFR methylenetetrahydrofolate reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16706930 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:1654209, PMID:2278970, PMID:2674680, PMID:3122217, PMID:6587382, PMID:8120410, PMID:10821536, PMID:12460918, PMID:12727991, PMID:14508525, PMID:15899789, PMID:16273091, PMID:16291983, PMID:16434492, PMID:17699718, PMID:18390968, PMID:18633438, PMID:18668139, PMID:18948947, PMID:19075190, PMID:19657110, PMID:19880792, PMID:20130576, PMID:20149136, PMID:20179705, PMID:20406486, PMID:20619739, PMID:20736745, PMID:21107323, PMID:21305640, PMID:21576590, PMID:21729679, PMID:21829508, PMID:22407852, PMID:22499344, PMID:22718121, PMID:22761467, PMID:22773810, PMID:23076151, PMID:23392294, PMID:23400451, PMID:23414587, PMID:23515407, PMID:23538902, PMID:23569304, PMID:23614898, PMID:24006476, PMID:24033266, PMID:24148783, PMID:24370118, PMID:24671188, PMID:25157968, PMID:25348872, PMID:25695684, PMID:26619011, PMID:26821351, PMID:27050078, PMID:28492532, PMID:28780248 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G P2RX7 purinergic receptor P2X 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11003599 NCBI chr12:121,132,819...121,188,032
Ensembl chr12:121,132,819...121,188,032
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 severity IEP protein:increased expression:B cell (human) RGD PMID:12673718 RGD:11541127 NCBI chr17:64,319,415...64,413,844
Ensembl chr17:64,319,415...64,413,776
JBrowse link
G PLCG2 phospholipase C gamma 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27542411 NCBI chr16:81,779,291...81,962,685
Ensembl chr16:81,739,097...81,962,685
JBrowse link
G PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr18:59,899,996...59,904,305
Ensembl chr18:59,899,948...59,904,306
Ensembl chr18:59,899,948...59,904,306
JBrowse link
G POLB DNA polymerase beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 8:42,338,452...42,371,810
Ensembl chr 8:42,338,454...42,371,808
JBrowse link
G PPP2R5C protein phosphatase 2 regulatory subunit B'gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr14:101,760,573...101,927,992
Ensembl chr14:101,761,798...101,927,989
JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator IEP protein:increased expression:mononuclear cell (human) RGD PMID:16620968 RGD:11535021 NCBI chr22:22,547,701...22,559,294
Ensembl chr22:22,547,701...22,559,361
JBrowse link
G PRKD2 protein kinase D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr19:46,674,316...46,717,114
Ensembl chr19:46,674,275...46,717,127
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16314473 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,423
JBrowse link
G QPCT glutaminyl-peptide cyclotransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 2:37,344,630...37,373,322
Ensembl chr 2:37,342,827...37,373,322
JBrowse link
G RBL2 RB transcriptional corepressor like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr16:53,434,471...53,491,648
Ensembl chr16:53,433,977...53,491,648
JBrowse link
G SF3B1 splicing factor 3b subunit 1 IAGP
EXP
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22158541, PMID:23634996, PMID:26619011 NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,091
Ensembl chr 2:197,388,515...197,435,091
JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr11:66,052,361...66,069,308
Ensembl chr11:66,050,729...66,069,308
JBrowse link
G SP140 SP140 nuclear body protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr 2:230,202,743...230,316,571
Ensembl chr 2:230,203,110...230,313,215
JBrowse link
G TERT telomerase reverse transcriptase disease_progression IEP RGD PMID:17344921 RGD:11038662 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TFRC transferrin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chr 3:196,018,694...196,082,123
Ensembl chr 3:196,027,183...196,082,096
JBrowse link
G THBD thrombomodulin IEP RGD PMID:21812019 RGD:5685033 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
G TNF tumor necrosis factor disease_progression IEP protein:increased expression:bone marrow, blood, lymphocyte RGD PMID:12010662, PMID:22945689 RGD:10449463, RGD:11041895 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF10A TNF receptor superfamily member 10a susceptibility IAGP 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 chr 8:23,190,452...23,225,102
Ensembl chr 8:23,190,452...23,225,102
JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a EXP CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
JBrowse link
G TNFSF11 TNF superfamily member 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
JBrowse link
G TNFSF13 TNF superfamily member 13 IEP protein:increased expression:serum RGD PMID:15488762 RGD:1549466 NCBI chr17:7,558,292...7,561,608
Ensembl chr17:7,558,292...7,561,608
JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 9:114,893,343...114,930,674
Ensembl chr 9:114,893,343...114,930,595
JBrowse link
G TOPBP1 DNA topoisomerase II binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 3:133,600,238...133,661,968
Ensembl chr 3:133,598,175...133,662,380
JBrowse link
G TP53 tumor protein p53 disease_progression IAGP
EXP
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 chr17:7,668,402...7,687,550
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G VDR vitamin D receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:12446453 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G XPO1 exportin 1 IAGP ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr 2:61,477,849...61,538,522
Ensembl chr 2:61,477,849...61,538,626
JBrowse link
G XRCC1 X-ray repair cross complementing 1 severity
no_association
IAGP 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 chr19:43,543,311...43,575,527
Ensembl chr19:43,543,040...43,580,473
Ensembl chr19:43,543,040...43,580,473
JBrowse link
B-Cell CLL/Lymphoma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL2 BCL2 apoptosis regulator IAGP OMIM NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
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 IAGP DNA:SNP: :rs6857600(human) RGD PMID:21918980 RGD:11080977 NCBI chr 4:88,090,264...88,231,626
Ensembl chr 4:88,090,150...88,231,628
JBrowse link
G AICDA activation induced cytidine deaminase ISO RGD PMID:17251349 RGD:11039449 NCBI chr12:8,602,170...8,612,970
Ensembl chr12:8,602,170...8,612,867
JBrowse link
G BCL2L2 BCL2 like 2 disease_progression ISO RGD PMID:28094768 RGD:14394511 NCBI chr14:23,306,833...23,311,751
Ensembl chr14:23,298,790...23,311,759
Ensembl chr14:23,298,790...23,311,759
JBrowse link
G BCL6 BCL6 transcription repressor IAGP diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region RGD PMID:11821949 RGD:1600111 NCBI chr 3:187,721,377...187,745,472
Ensembl chr 3:187,721,377...187,745,725
JBrowse link
G BRD2 bromodomain containing 2 IMP RGD PMID:14563639 RGD:9586345 NCBI chr 6:32,968,594...32,981,505
Ensembl chr 6:32,968,594...32,981,505
JBrowse link
G BTK Bruton tyrosine kinase treatment ISO RGD PMID:25662332 RGD:11040764 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,447...101,390,796
JBrowse link
G CBX7 chromobox 7 ISO RGD PMID:17374722 RGD:11352707 NCBI chr22:39,130,772...39,152,680
Ensembl chr22:39,120,167...39,152,680
JBrowse link
G CD40 CD40 molecule IMP RGD PMID:20616215 RGD:5490532 NCBI chr20:46,118,242...46,129,858
Ensembl chr20:46,118,278...46,129,863
JBrowse link
G CSF2 colony stimulating factor 2 treatment ISO RGD PMID:8469286 RGD:10450244 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: therapeutic CTD PMID:11042651 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G EAF2 ELL associated factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20564326 NCBI chr 3:121,835,180...121,886,526
Ensembl chr 3:121,835,183...121,886,526
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit severity ISO
ISS
MouseDO PMID:23982173 RGD:10755356 NCBI chr 7:148,807,374...148,884,344
Ensembl chr 7:148,807,383...148,884,321
JBrowse link
G IL21R interleukin 21 receptor IAGP diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region RGD PMID:11821949 RGD:1600111 NCBI chr16:27,402,162...27,452,043
Ensembl chr16:27,402,174...27,452,042
JBrowse link
G JAK3 Janus kinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24837469 NCBI chr19:17,824,782...17,848,071
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G KAT5 lysine acetyltransferase 5 severity ISO RGD PMID:17728759 RGD:9588481 NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604
JBrowse link
G LGALS1 galectin 1 ISO protein:increased expression:primary tumor (rat) RGD PMID:16733672 RGD:2316550 NCBI chr22:37,675,636...37,679,802
Ensembl chr22:37,675,636...37,679,802
JBrowse link
G MIR143 microRNA 143 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr 5:149,428,918...149,429,023
Ensembl chr 5:149,428,918...149,429,023
JBrowse link
G MIR145 microRNA 145 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733
JBrowse link
G NRAS NRAS proto-oncogene, GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:14633661 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14654083 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,423
JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24531327 NCBI chr20:50,510,383...50,585,241
Ensembl chr20:50,510,321...50,585,241
JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 9:114,893,343...114,930,674
Ensembl chr 9:114,893,343...114,930,595
JBrowse link
G TNFSF9 TNF superfamily member 9 ISO RGD PMID:10202049 RGD:2317349 NCBI chr19:6,531,026...6,535,924
Ensembl chr19:6,531,026...6,535,924
JBrowse link
B-lymphoblastic leukemia/lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase treatment IMP RGD PMID:21481795 RGD:11038814 NCBI chr 9:130,713,881...130,887,675
Ensembl chr 9:130,713,016...130,887,675
JBrowse link
G AKR1C3 aldo-keto reductase family 1 member C3 treatment IDA RGD PMID:26116659 RGD:11541128 NCBI chr10:5,048,781...5,107,686
Ensembl chr10:5,035,354...5,107,686
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G ATF7IP activating transcription factor 7 interacting protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr12:14,365,640...14,502,935
Ensembl chr12:14,365,632...14,502,935
JBrowse link
G BCL2L1 BCL2 like 1 severity ISO RGD PMID:18216295 RGD:11531108 NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989
JBrowse link
G BRD2 bromodomain containing 2 IMP RGD PMID:14563639 RGD:9586345 NCBI chr 6:32,968,594...32,981,505
Ensembl chr 6:32,968,594...32,981,505
JBrowse link
G CCN2 cellular communication network factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24154679 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
JBrowse link
G CCND1 cyclin D1 ISO mRNA:increased expression:B cell (mouse) RGD PMID:23169640 RGD:11353783 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CDH1 cadherin 1 IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,541
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A treatment
susceptibility
ISO
IAGP
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 9:21,967,752...21,995,324
Ensembl chr 9:21,967,753...21,995,301
JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:10617473, PMID:11053450, PMID:11479205, PMID:11719428, PMID:11967536, PMID:12094328, PMID:12533788, PMID:12690581, PMID:14648717, PMID:14648718, PMID:14648719, PMID:15122511, PMID:15488637, PMID:15492928, PMID:15520402, PMID:16257342, PMID:16492927, PMID:16880452, PMID:17085682, PMID:18172190, PMID:19338683, PMID:19805189, PMID:21807500, PMID:21956126, PMID:22006311, PMID:22058428, PMID:22419737, PMID:22811390, PMID:22994785, PMID:23469205, PMID:24033266, PMID:24884479, PMID:25431674, PMID:25741868, PMID:26084796, PMID:26467025, PMID:26641009, PMID:26681312, PMID:26822237, PMID:26845104, PMID:26884562, PMID:27083775, PMID:27153395, PMID:27269948, PMID:27433846, PMID:27751358, PMID:27798748, PMID:28125075, PMID:28135145, PMID:28195393, PMID:28492532, PMID:28503720, PMID:28514723, PMID:28727877, PMID:28734145, PMID:28779002, PMID:28802053, PMID:28874143, PMID:29351919, PMID:29489754, PMID:30311386 NCBI chr22:28,687,743...28,741,866
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G CRLF2 cytokine receptor like factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr  Y:1,190,437...1,212,762
NCBI chr  X:1,190,437...1,212,762
Ensembl chr  X:1,187,549...1,212,723
JBrowse link
G CYP3A5 cytochrome P450 family 3 subfamily A member 5 treatment IAGP DNA:polymorphisms: : RGD PMID:21225912 RGD:11353807 NCBI chr 7:99,648,194...99,679,996
Ensembl chr 7:99,648,194...99,679,998
JBrowse link
G DUX4 double homeobox 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27019113 NCBI chr 4:190,173,774...190,185,911
Ensembl chr 4:190,173,774...190,185,942
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:23623386, PMID:25741868 NCBI chr16:13,920,137...13,952,348
Ensembl chr16:13,920,154...13,952,348
Ensembl chr16:13,920,154...13,952,348
JBrowse link
G ETV6 ETS variant transcription factor 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15217836, PMID:24413735, PMID:25807284 NCBI chr12:11,649,601...11,895,386
Ensembl chr12:11,649,674...11,895,377
Ensembl chr12:11,649,674...11,895,377
JBrowse link
G F13A1 coagulation factor XIII A chain IEP protein:increased expression:B lymphoblast: RGD PMID:16894461 RGD:11041855 NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013
Ensembl chr 6:6,144,084...6,321,013
JBrowse link
G F3 coagulation factor III, tissue factor treatment IDA RGD PMID:19874310 RGD:11341694 NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759
JBrowse link
G FH fumarate hydratase IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,603...241,519,761
Ensembl chr 1:241,497,603...241,519,761
JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 IEP mRNA,protein:increased expression:bone marrow: RGD PMID:8562934 RGD:11049466 NCBI chr13:28,003,274...28,100,587
Ensembl chr13:28,003,274...28,100,592
JBrowse link
G GATA3 GATA binding protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr10:8,045,420...8,075,198
Ensembl chr10:8,045,378...8,075,198
JBrowse link
G IKZF1 IKAROS family zinc finger 1 disease_progression IAGP
EXP
DNA:mutations: :
CTD Direct Evidence: marker/mechanism
CTD PMID:24141364, PMID:22699455 RGD:11075072 NCBI chr 7:50,303,453...50,405,101
Ensembl chr 7:50,304,068...50,405,101
JBrowse link
G IL5 interleukin 5 ISO RGD PMID:15368290 RGD:7241068 NCBI chr 5:132,539,194...132,556,864
Ensembl chr 5:132,541,445...132,556,838
JBrowse link
G IRF4 interferon regulatory factor 4 ISO RGD PMID:25006123, PMID:20585039, PMID:21818355 RGD:11526159, RGD:11530030, RGD:11530020 NCBI chr 6:391,752...411,443
Ensembl chr 6:391,752...411,443
JBrowse link
G IRF8 interferon regulatory factor 8 ISO RGD PMID:20585039 RGD:11530030 NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,162...85,922,606
JBrowse link
G MGA MAX dimerization protein MGA EXP CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr15:41,621,225...41,769,940
Ensembl chr15:41,621,224...41,773,081
JBrowse link
G MYB MYB proto-oncogene, transcription factor disease_progression IEP mRNA:splice variants:cds: RGD PMID:21853052 RGD:11532669 NCBI chr 6:135,181,308...135,219,172
Ensembl chr 6:135,181,308...135,219,173
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:22120021 RGD:7207416 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:23656349, PMID:25741868, PMID:28492532 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G PAX5 paired box 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24013638, PMID:30643249 NCBI chr 9:36,833,269...37,034,268
Ensembl chr 9:36,833,269...37,034,268
JBrowse link
G PBX1 PBX homeobox 1 IAGP OMIM NCBI chr 1:164,559,184...164,886,047
Ensembl chr 1:164,555,584...164,899,296
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha treatment ISO RGD PMID:22447844 RGD:11075097 NCBI chr 4:54,229,127...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868, PMID:28492532 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RUNX1 RUNX family transcription factor 1 onset IAGP DNA:amplification RGD PMID:21822204 RGD:6482828 NCBI chr21:35,372,507...35,580,764
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G RUNX1 RUNX family transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15217836, PMID:24413735 NCBI chr21:34,787,801...35,049,334
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G STAT3 signal transducer and activator of transcription 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19796711 NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,482
Ensembl chr17:42,313,324...42,388,482
JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868, PMID:26080840, PMID:26295973, PMID:28492532 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G TCF3 transcription factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19246562 NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,290...1,652,615
JBrowse link
G TFPI tissue factor pathway inhibitor treatment IDA RGD PMID:19874310 RGD:11341694 NCBI chr 2:187,464,230...187,554,501
Ensembl chr 2:187,464,230...187,565,760
JBrowse link
G TNFSF13 TNF superfamily member 13 IMP RGD PMID:15488762 RGD:1549466 NCBI chr17:7,558,292...7,561,608
Ensembl chr17:7,558,292...7,561,608
JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 9:114,893,343...114,930,674
Ensembl chr 9:114,893,343...114,930,595
JBrowse link
G TP53 tumor protein p53 disease_progression IAGP DNA:mutations: : RGD PMID:22699455 RGD:11075072 NCBI chr17:7,668,402...7,687,550
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:8621495, PMID:12640141, PMID:16987884, PMID:25741868, PMID:28492532, PMID:28811308 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
Ensembl chr11:32,387,775...32,435,564
JBrowse link
B-lymphoblastic leukemia/lymphoma with BCR-ABL1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 ClinVar PMID:25741868 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:47,783,145...47,806,954
Ensembl chr 2:47,695,530...47,810,101
Ensembl chr 2:47,695,530...47,810,101
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 ClinVar PMID:25741868 NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,913
Ensembl chr12:112,418,351...112,509,913
JBrowse link
B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25186627, PMID:25741868, PMID:28492532 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868, PMID:28492532 NCBI chr10:86,755,786...86,927,969
Ensembl chr10:86,756,601...86,932,838
Ensembl chr10:86,756,601...86,932,838
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868, PMID:28492532 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G MSH2 mutS homolog 2 IAGP 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 2:47,403,067...47,634,501
Ensembl chr 2:47,403,067...47,663,146
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:21520333, PMID:23104009, PMID:23621914, PMID:25741868, PMID:26689913, PMID:28492532 NCBI chr 2:47,783,145...47,806,954
Ensembl chr 2:47,695,530...47,810,101
Ensembl chr 2:47,695,530...47,810,101
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868, PMID:28492532 NCBI chr16:23,603,162...23,641,337
Ensembl chr16:23,603,160...23,641,310
JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868, PMID:28492532 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:10678659, PMID:12734318, PMID:12838562, PMID:18716613, PMID:25741868 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,981,549...39,124,345
Ensembl chr 2:38,981,549...39,124,345
JBrowse link
B-lymphoblastic leukemia/lymphoma with hyperdiploidy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase IAGP ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:29,190,992...29,921,589
Ensembl chr 2:29,192,774...29,921,586
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:25741868, PMID:28492532 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:11802209, PMID:15385441, PMID:16267036, PMID:19616529, PMID:22811390, PMID:23704879, PMID:25348012, PMID:25722345, PMID:25741868, PMID:26295337, PMID:26467025, PMID:26727311, PMID:27208206, PMID:28492532, PMID:31131967 NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:17924331, PMID:18824701, PMID:21120943, PMID:21990165, PMID:25348012, PMID:25741868, PMID:26689913, PMID:28492532 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G CBL Cbl proto-oncogene IAGP ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:24033266, PMID:25741868 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
Ensembl chr11:119,206,298...119,313,926
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:25741868 NCBI chr19:4,090,321...4,124,184
Ensembl chr19:4,090,321...4,124,129
Ensembl chr19:4,090,321...4,124,129
JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 2:47,403,067...47,634,501
Ensembl chr 2:47,403,067...47,663,146
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:21490379, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
B-lymphoblastic leukemia/lymphoma with hypodiploidy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy ClinVar PMID:25741868, PMID:28492532 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G CEBPA CCAAT enhancer binding protein alpha IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy ClinVar PMID:25741868, PMID:28492532 NCBI chr19:33,299,934...33,302,564
Ensembl chr19:33,299,934...33,302,534
JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy ClinVar PMID:14566559, PMID:14627689, PMID:18772120, PMID:21655256, PMID:22703879, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy ClinVar PMID:25741868, PMID:28492532 NCBI chr 5:218,309...264,816
Ensembl chr 5:218,241...257,082
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 IAGP ClinVar Annotator: match by term: B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 ClinVar PMID:25741868, PMID:28492532 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 ClinVar PMID:22589294, PMID:25741868, PMID:26580448, PMID:27153395, PMID:28492532 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,981,549...39,124,345
Ensembl chr 2:38,981,549...39,124,345
JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 ClinVar PMID:25741868, PMID:28492532 NCBI chr16:2,047,804...2,089,491
Ensembl chr16:2,047,967...2,089,491
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 IAGP
EXP
DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
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
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snp:cds:p.E383K (human)
DNA:snp:cds:p.E383G (human)
ClinVar
CTD
OMIM
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:11528384, PMID:19479837, PMID:15812565, PMID:19116920 RGD:8158040, RGD:8547518, RGD:8547515, RGD:8158051 NCBI chr16:50,693,587...50,733,077
Ensembl chr16:50,693,588...50,734,041
JBrowse link
Burkitt lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4GALT alpha 1,4-galactosyltransferase (P blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:11482875 NCBI chr22:42,692,115...42,721,301
Ensembl chr22:42,692,121...42,721,298
JBrowse link
G ARID1A AT-rich interaction domain 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G BBC3 BCL2 binding component 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18573879 NCBI chr19:47,220,822...47,232,998
Ensembl chr19:47,220,822...47,232,766
JBrowse link
G BCL2L2 BCL2 like 2 IEP mRNA:increased expression:lymph node RGD PMID:28094768 RGD:14394511 NCBI chr14:23,306,833...23,311,751
Ensembl chr14:23,298,790...23,311,759
Ensembl chr14:23,298,790...23,311,759
JBrowse link
G CCT6B chaperonin containing TCP1 subunit 6B EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr17:34,927,861...34,981,222
Ensembl chr17:34,927,859...34,981,078
JBrowse link
G CD40 CD40 molecule treatment IMP human cell line in a mouse model RGD PMID:9192773 RGD:11520790 NCBI chr20:46,118,242...46,129,858
Ensembl chr20:46,118,278...46,129,863
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr21:46,135,981...46,156,482
Ensembl chr21:46,136,262...46,155,579
JBrowse link
G GNA13 G protein subunit alpha 13 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr17:65,009,289...65,056,740
Ensembl chr17:65,009,289...65,056,740
JBrowse link
G ID3 inhibitor of DNA binding 3, HLH protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143595, PMID:23143597 NCBI chr 1:23,557,926...23,559,501
Ensembl chr 1:23,557,926...23,559,501
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Burkitt lymphoma
DNA:mutations:exons:multiple (human)
OMIM
ClinVar
PMID:8220424, PMID:25157968, PMID:8220424, PMID:8397370 RGD:1601453, RGD:10059619 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G PBX1 PBX homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:1967982, PMID:17244677 NCBI chr 1:164,559,184...164,886,047
Ensembl chr 1:164,555,584...164,899,296
JBrowse link
G PC pyruvate carboxylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr11:66,848,420...66,958,418
Ensembl chr11:66,848,417...66,958,386
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 5:68,215,737...68,301,821
Ensembl chr 5:68,215,756...68,301,821
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP ClinVar Annotator: match by term: Burkitt lymphoma ClinVar PMID:15887099, PMID:18602922, PMID:20205264, PMID:22120844, PMID:22577899, PMID:23012243, PMID:23652311, PMID:24033266, PMID:24362816, PMID:24728189, PMID:24728327, PMID:25512458, PMID:25741868, PMID:25856668, PMID:25980754, PMID:26116798, PMID:26318770, PMID:26467025, PMID:26681312, PMID:27017610, PMID:27037742, PMID:28492532, PMID:28562508, PMID:30155321 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,106
JBrowse link
G RET ret proto-oncogene EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G SALL3 spalt like transcription factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr18:78,980,275...78,998,969
Ensembl chr18:78,980,275...79,002,677
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr19:10,960,997...11,062,277
Ensembl chr19:10,960,932...11,079,426
Ensembl chr19:10,960,932...11,079,426
JBrowse link
G TCF3 transcription factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:1967982, PMID:17244677 NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,290...1,652,615
JBrowse link
Castleman disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15182131 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
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 IAGP DNA:SNP:promoter:-1082G>A (human) RGD PMID:22628023 RGD:7364831 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
childhood acute lymphocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP ClinVar Annotator: match by term: Acute lymphoblastic leukemia, childhood ClinVar PMID:15887099, PMID:18602922, PMID:20205264, PMID:22120844, PMID:22577899, PMID:23012243, PMID:23652311, PMID:24033266, PMID:24362816, PMID:24728189, PMID:24728327, PMID:25512458, PMID:25741868, PMID:25856668, PMID:25980754, PMID:26116798, PMID:26318770, PMID:26467025, PMID:26681312, PMID:27017610, PMID:27037742, PMID:28492532, PMID:28562508, PMID:30155321 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,106
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 IEP protein:increased expression:peripheral blood mononuclear cell RGD PMID:27078856 RGD:13842476 NCBI chr 9:4,709,556...4,742,043
Ensembl chr 9:4,709,556...4,742,043
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:12068308, PMID:12198537, PMID:12692057, PMID:12960123, PMID:14612909, PMID:14679157, PMID:14688025, PMID:15035987, PMID:16187918, PMID:17096326, PMID:17119447, PMID:17311103, PMID:17704260, PMID:18039235, PMID:18060073, PMID:18368129, PMID:18413255, PMID:18794803, PMID:19206169, PMID:19383316, PMID:19537845, PMID:19913317, PMID:20350999, PMID:20619739, PMID:21129611, PMID:21639808, PMID:22048237, PMID:22310681, PMID:22495831, PMID:22663011, PMID:22972589, PMID:23352452, PMID:23680146, PMID:24033266, PMID:24451042, PMID:25155755, PMID:25157968, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29595366 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BTK Bruton tyrosine kinase IAGP ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:24869598, PMID:28492532 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,447...101,390,796
JBrowse link
G CD40LG CD40 ligand IEP protein:increased expression:serum (human) RGD PMID:9450802 RGD:11522717 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CD86 CD86 molecule IDA DNA:hypermethylation (human) RGD PMID:23154584 RGD:11354975 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: Chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:25741868, PMID:26619011 NCBI chr 4:152,320,544...152,536,873
Ensembl chr 4:152,320,544...152,536,092
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:12835555, PMID:16329078, PMID:16372351, PMID:16835863, PMID:17211612, PMID:17384584, PMID:18042262, PMID:19213030, PMID:19255327, PMID:19773371, PMID:20859122, PMID:21438134, PMID:21495179, PMID:21850009, PMID:22256804, PMID:22499344, PMID:22683711, PMID:22726224, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29493581, PMID:168335863 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,287
JBrowse link
G IL5 interleukin 5 IEP protein:increased expression:serum RGD PMID:21911837 RGD:11354912 NCBI chr 5:132,539,194...132,556,864
Ensembl chr 5:132,541,445...132,556,838
JBrowse link
G IRF4 interferon regulatory factor 4 disease_progression ISO
IAGP
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 chr 6:391,752...411,443
Ensembl chr 6:391,752...411,443
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:2278970, PMID:3122217, PMID:12460918, PMID:15696205, PMID:16361624, PMID:16434492, PMID:16618717, PMID:18316791, PMID:18794081, PMID:19075190, PMID:19114683, PMID:19679400, PMID:20921462, PMID:20921465, PMID:21228335, PMID:22407852, PMID:22722830, PMID:23325582, PMID:25157968, PMID:26619011 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:12835555, PMID:16329078, PMID:16372351, PMID:16835863, PMID:17211612, PMID:17384584, PMID:18042262, PMID:19213030, PMID:19255327, PMID:19773371, PMID:20859122, PMID:21438134, PMID:21495179, PMID:21850009, PMID:22256804, PMID:22499344, PMID:22683711, PMID:22726224, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29493581, PMID:168335863 NCBI chr11:518,967...554,916
Ensembl chr11:537,527...554,912
JBrowse link
G MIR155 microRNA 155 IEP miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:29658610 RGD:21081544 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G MIR21 microRNA 21 IEP miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:29658610 RGD:21081544 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor disease_progression IEP RGD PMID:20956327 RGD:11340590 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IAGP ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:21179087, PMID:22931316, PMID:23215570, PMID:26619011, PMID:28492532 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,478...38,143,022
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:1654209, PMID:2278970, PMID:2674680, PMID:3122217, PMID:6587382, PMID:8120410, PMID:10821536, PMID:12460918, PMID:12727991, PMID:14508525, PMID:15899789, PMID:16273091, PMID:16291983, PMID:16434492, PMID:17699718, PMID:18390968, PMID:18633438, PMID:18668139, PMID:18948947, PMID:19075190, PMID:19657110, PMID:19880792, PMID:20130576, PMID:20149136, PMID:20179705, PMID:20406486, PMID:20619739, PMID:20736745, PMID:21107323, PMID:21305640, PMID:21576590, PMID:21729679, PMID:21829508, PMID:22407852, PMID:22499344, PMID:22718121, PMID:22761467, PMID:22773810, PMID:23076151, PMID:23392294, PMID:23400451, PMID:23414587, PMID:23515407, PMID:23538902, PMID:23569304, PMID:23614898, PMID:24006476, PMID:24033266, PMID:24148783, PMID:24370118, PMID:24671188, PMID:25157968, PMID:25348872, PMID:25695684, PMID:26619011, PMID:26821351, PMID:27050078, PMID:28492532, PMID:28780248 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G PLCG2 phospholipase C gamma 2 IAGP ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:24869598 NCBI chr16:81,779,291...81,962,685
Ensembl chr16:81,739,097...81,962,685
JBrowse link
G PON1 paraoxonase 1 susceptibility IAGP DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26254371 RGD:11073982 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:12717436, PMID:14644997, PMID:15385933, PMID:15710330, PMID:15928039, PMID:16358218, PMID:17972951, PMID:19047918, PMID:19179468, PMID:24033266, PMID:25097206, PMID:25395418, PMID:26619011, PMID:27069254, PMID:28098151, PMID:30868567 NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,913
Ensembl chr12:112,418,351...112,509,913
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 susceptibility IAGP
IEP
DNA:snp:cds:p.R620W (rs2476601) (human)
protein:increased expression:B cell (human)
RGD PMID:23287625, PMID:22569400 RGD:11533998, RGD:11535006 NCBI chr 1:113,813,811...113,871,761
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G SF3B1 splicing factor 3b subunit 1 IAGP ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:23634996, PMID:26619011 NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,091
Ensembl chr 2:197,388,515...197,435,091
JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr11:66,052,361...66,069,308
Ensembl chr11:66,050,729...66,069,308
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IEP protein:increased phosphorylation:peripheral blood mononuclear cell RGD PMID:29658610 RGD:21081544 NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,482
Ensembl chr17:42,313,324...42,388,482
JBrowse link
G TP53 tumor protein p53 IAGP 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 chr17:7,668,402...7,687,550
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G XPO1 exportin 1 IAGP ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr 2:61,477,849...61,538,522
Ensembl chr 2:61,477,849...61,538,626
JBrowse link
Churg-Strauss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL26 C-C motif chemokine ligand 26 IEP protein:increased expression:serum (human) RGD PMID:21266446 RGD:11081158 NCBI chr 7:75,769,524...75,791,597
Ensembl chr 7:75,769,533...75,789,896
JBrowse link
G GDNF glial cell derived neurotrophic factor IEP RGD PMID:9853108 RGD:6218983 NCBI chr 5:37,812,677...37,840,044
Ensembl chr 5:37,812,677...37,840,041
JBrowse link
G GFRA1 GDNF family receptor alpha 1 IEP RGD PMID:9853108 RGD:6218983 NCBI chr10:116,056,925...116,274,705
Ensembl chr10:116,056,925...116,273,467
JBrowse link
G IL5 interleukin 5 severity IEP RGD PMID:22772323 RGD:6892720 NCBI chr 5:132,539,194...132,556,864
Ensembl chr 5:132,541,445...132,556,838
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IEP RGD PMID:22772323 RGD:6892720 NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,482
Ensembl chr17:42,313,324...42,388,482
JBrowse link
G VTN vitronectin IDA RGD PMID:12126637 RGD:1580817 NCBI chr17:28,367,284...28,370,307
Ensembl chr17:28,367,284...28,373,091
JBrowse link
common variable immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD19 CD19 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr16:28,931,735...28,939,347
Ensembl chr16:28,931,965...28,939,342
Ensembl chr16:28,931,965...28,939,342
JBrowse link
G CD40LG CD40 ligand IAGP ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CD81 CD81 molecule EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr11:2,376,180...2,397,402
Ensembl chr11:2,376,177...2,397,419
Ensembl chr11:2,376,177...2,397,419
JBrowse link
G CR2 complement C3d receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,454,230...207,489,895
JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP DNA:missense mutation, frameshift mutation: :p.T65I (c.194C>T), c.1669_1670insA (human) RGD PMID:26476407 RGD:11251730 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
JBrowse link
G FCGR2A Fc fragment of IgG receptor IIa IEP protein:decreased expression:blood, monocyte RGD PMID:17900300 RGD:5147988 NCBI chr 1:161,505,430...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms (human) RGD PMID:10361244 RGD:5147864 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G ICOS inducible T cell costimulator EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
JBrowse link
G IKZF1 IKAROS family zinc finger 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:50,303,453...50,405,101
Ensembl chr 7:50,304,068...50,405,101
JBrowse link
G IL21 interleukin 21 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IL21R interleukin 21 receptor IAGP DNA:SNPs:exons: RGD PMID:18254984 RGD:6892941 NCBI chr16:27,402,162...27,452,043
Ensembl chr16:27,402,174...27,452,042
JBrowse link
G LRBA LPS responsive beige-like anchor protein IEA OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767 MouseDO NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727
JBrowse link
G MANBA mannosidase beta IAGP ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr 4:102,630,770...102,760,968
Ensembl chr 4:102,630,770...102,760,994
JBrowse link
G MBL2 mannose binding lectin 2 IAGP DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human) RGD PMID:10652157 RGD:4889436 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MS4A1 membrane spanning 4-domains A1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,752...60,470,760
Ensembl chr11:60,455,752...60,470,760
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar Annotator: match by term: Common variable agammaglobulinemia
CTD
ClinVar
PMID:25741868, PMID:29477724 NCBI chr 4:102,501,266...102,617,302
Ensembl chr 4:102,501,331...102,617,302
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable immunodeficiency
CTD
ClinVar
PMID:24140114, PMID:24702956, PMID:25524009, PMID:25605273, PMID:25741868, PMID:28492532, PMID:28778864, PMID:29225085, PMID:30941118 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 IEP protein:decreased expression:T cell (human) RGD PMID:22697005 RGD:6771226 NCBI chr17:64,319,415...64,413,844
Ensembl chr17:64,319,415...64,413,776
JBrowse link
G RAG2 recombination activating 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:18463379, PMID:24331380, PMID:25741868, PMID:26457731, PMID:28492532 NCBI chr11:36,591,943...36,598,236
Ensembl chr11:36,575,574...36,598,279
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP
EXP
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant
ClinVar Annotator: match by term: Common variable agammaglobulinemia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable immunodeficiency 2
ClinVar
CTD
PMID:8072530, PMID:15077010, PMID:16007086, PMID:16007087, PMID:16299065, PMID:16630947, PMID:16782407, PMID:16899196, PMID:17192819, PMID:17392797, PMID:17392798, PMID:17464555, PMID:17492055, PMID:17556024, PMID:17917015, PMID:17947292, PMID:17983875, PMID:18496551, PMID:18509552, PMID:18978466, PMID:18981294, PMID:19210517, PMID:19392801, PMID:19605846, PMID:19629655, PMID:19779048, PMID:20006554, PMID:20156508, PMID:20676093, PMID:20889194, PMID:21419480, PMID:21458042, PMID:21547394, PMID:21724465, PMID:21850030, PMID:22076597, PMID:22627058, PMID:22697072, PMID:22699762, PMID:22884984, PMID:22983507, PMID:23237420, PMID:23956760, PMID:24033266, PMID:24051380, PMID:25174870, PMID:25326637, PMID:25741868, PMID:26046366, PMID:26100089, PMID:26122175, PMID:26727773, PMID:27123465, PMID:27577878, PMID:28492532, PMID:29114388, PMID:29146883, PMID:29555771, PMID:29867916, PMID:30311386 NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C IAGP
EXP
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
JBrowse link
G TNFSF12 TNF superfamily member 12 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar Annotator: match by term: Common variable agammaglobulinemia
ClinVar PMID:28492532 NCBI chr17:7,549,058...7,557,881
Ensembl chr17:7,549,058...7,557,890
JBrowse link
G TNFSF12-TNFSF13 TNFSF12-TNFSF13 readthrough IAGP ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar Annotator: match by term: Common variable agammaglobulinemia
ClinVar PMID:28492532 NCBI chr17:7,549,058...7,561,601
Ensembl chr17:7,549,099...7,561,601
JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,916,157...47,076,137
JBrowse link
Common Variable Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ICOS inducible T cell costimulator IAGP 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 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 1 ClinVar PMID:24140114 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
JBrowse link
Common Variable Immunodeficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFKB2 nuclear factor kappa B subunit 2 IAGP 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 chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
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 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 11 ClinVar
OMIM
PMID:24746753 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IL21-AS1 IL21 antisense RNA 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 11 ClinVar PMID:24746753 NCBI chr 4:122,618,983...122,689,156
Ensembl chr 4:122,618,983...122,689,156
JBrowse link
Common Variable Immunodeficiency 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFKB1 nuclear factor kappa B subunit 1 IAGP 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 4:102,501,266...102,617,302
Ensembl chr 4:102,501,331...102,617,302
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 IAGP 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 chr 7:50,303,453...50,405,101
Ensembl chr 7:50,304,068...50,405,101
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 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY, COMMON VARIABLE, 14 ClinVar
OMIM
PMID:27016798, PMID:28492532 NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,609,525
JBrowse link
Common Variable Immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNFRSF13B TNF receptor superfamily member 13B IAGP 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 chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
Common Variable Immunodeficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD19 CD19 molecule IAGP 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 chr16:28,931,735...28,939,347
Ensembl chr16:28,931,965...28,939,342
Ensembl chr16:28,931,965...28,939,342
JBrowse link
Common Variable Immunodeficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACO2 aconitase 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,468,756...41,528,979
Ensembl chr22:41,469,117...41,528,989
JBrowse link
G AL023553.1 novel transcript, antisense to TSPO IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,551,709...41,560,883
Ensembl chr22:41,551,710...41,560,905
JBrowse link
G CCDC134 coiled-coil domain containing 134 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,800,679...41,832,164
Ensembl chr22:41,800,679...41,826,299
JBrowse link
G CENPM centromere protein M IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,927,747...41,947,152
Ensembl chr22:41,938,737...41,947,152
JBrowse link
G CSDC2 cold shock domain containing C2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,561,010...41,576,666
Ensembl chr22:41,561,010...41,577,741
JBrowse link
G DESI1 desumoylating isopeptidase 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,598,028...41,621,077
Ensembl chr22:41,598,028...41,621,043
JBrowse link
G LINC00634 long intergenic non-protein coding RNA 634 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,952,187...41,958,942
Ensembl chr22:41,952,174...41,958,933
JBrowse link
G MEI1 meiotic double-stranded break formation protein 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,699,503...41,799,477
Ensembl chr22:41,699,503...41,799,456
JBrowse link
G MIR33A microRNA 33a IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,900,944...41,901,012
Ensembl chr22:41,900,944...41,901,012
JBrowse link
G MIR378I microRNA 378i IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,923,222...41,923,297
Ensembl chr22:41,923,222...41,923,297
JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842
JBrowse link
G PHF5A PHD finger protein 5A IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,459,717...41,468,692
Ensembl chr22:41,459,717...41,468,692
JBrowse link
G PMM1 phosphomannomutase 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,576,895...41,589,866
Ensembl chr22:41,576,900...41,589,871
JBrowse link
G POLR3H RNA polymerase III subunit H IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606
JBrowse link
G RANGAP1 Ran GTPase activating protein 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,244,779...41,302,369
Ensembl chr22:41,244,779...41,286,187
Ensembl chr22:41,244,779...41,286,187
JBrowse link
G SEPTIN3 septin 3 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,969,443...41,998,221
Ensembl chr22:41,969,475...41,998,221
JBrowse link
G SHISA8 shisa family member 8 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,906,049...41,915,093
Ensembl chr22:41,909,554...41,914,667
JBrowse link
G SNU13 small nuclear ribonucleoprotein 13 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,673,933...41,690,492
Ensembl chr22:41,673,933...41,690,504
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,833,105...41,907,308
Ensembl chr22:41,833,079...41,907,307
JBrowse link
G SREBF2-AS1 SREBF2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,827,481...41,834,665
Ensembl chr22:41,831,215...41,834,665
JBrowse link
G TEF TEF transcription factor, PAR bZIP family member IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,367,455...41,399,326
Ensembl chr22:41,367,333...41,399,326
JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C IAGP 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 chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
JBrowse link
G TOB2 transducer of ERBB2, 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,433,492...41,448,230
Ensembl chr22:41,433,494...41,446,801
JBrowse link
G WBP2NL WBP2 N-terminal like IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,995,103...42,059,402
Ensembl chr22:41,998,725...42,058,456
JBrowse link
G XRCC6 X-ray repair cross complementing 6 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484, PMID:28492532 NCBI chr22:41,621,295...41,664,041
Ensembl chr22:41,621,163...41,664,048
Ensembl chr22:41,621,163...41,664,048
JBrowse link
G