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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



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acute biphenotypic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOT1L DOT1 like histone lysine methyltransferase treatment ISO RGD PMID:23801631 RGD:9588291 NCBI chr20:56,805,030...56,868,771
Ensembl chr20:56,803,242...56,852,539
JBrowse link
G RNF20 ring finger protein 20 disease_progression ISO RGD PMID:23412334 RGD:9831405 NCBI chr11:58,239,245...58,266,637
Ensembl chr11:58,239,313...58,265,866
JBrowse link
acute leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified ClinVar PMID:7585650 PMID:8571952 PMID:9195225 PMID:9238033 PMID:15982307 More... NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
JBrowse link
acute lymphoblastic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:snps, haplotype:multiple (human)
CTD
RGD
PMID:22674224 RGD:8657089 NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 treatment ISO DNA:SNPs: :rs717620(human)
DNA:SNP:5'UTR:rs717620(human)
RGD PMID:24404132 PMID:25007187 RGD:11080959 RGD:11080979 NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740
JBrowse link
G ABCG2 ATP binding cassette subfamily G member 2 disease_progression ISO mRNA:increased expression:mononuclear cell: RGD PMID:12100141 PMID:15521915 RGD:11081076 RGD:11081143 NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674
JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11984797 PMID:21898527 NCBI chr 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307
JBrowse link
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase susceptibility ISO RGD PMID:17065136 RGD:11100012 NCBI chr 9:49,746,749...49,758,317
Ensembl chr 9:49,748,693...49,758,479
JBrowse link
G AICDA activation induced cytidine deaminase treatment ISO RGD PMID:19759560 RGD:11039451 NCBI chr27:37,064,107...37,073,791
Ensembl chr27:37,064,080...37,073,789
JBrowse link
G ARID5B AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684603 PMID:19684604 NCBI chr 4:13,926,759...14,105,069
Ensembl chr 4:13,927,217...14,101,364
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 Ensembl chr17:59,941,353...60,010,867
Ensembl chr17:59,941,353...60,010,867
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO OMIM NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BCL2 BCL2 apoptosis regulator severity ISO mRNA:increased expression:bone marrow (human) RGD PMID:25982455 RGD:11076595 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G BCL2L1 BCL2 like 1 treatment ISO mRNA:increased expression:blood, mononuclear cell (human) RGD PMID:12469194 PMID:19020783 RGD:11353852 RGD:11353866 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355
JBrowse link
G BCR BCR activator of RhoGEF and GTPase ISO OMIM NCBI chr26:27,856,280...27,980,923
Ensembl chr26:27,856,082...27,978,318
JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: therapeutic CTD PMID:22010212 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
JBrowse link
G CAST calpastatin ISO protein:increased expresssion:B cell RGD PMID:11264179 RGD:5509822 NCBI chr 3:12,920,514...13,031,974
Ensembl chr 3:12,922,453...13,031,959
JBrowse link
G CCND1 cyclin D1 ISO mRNA:increased expression:bone marrow (human) RGD PMID:22391157 RGD:11352824 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:9292526 RGD:11352271 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CD79B CD79b molecule ISO protein:decreased expression:bone marrow, mononuclear cell (human) RGD PMID:21487112 RGD:11250414 NCBI chr 9:11,834,230...11,844,946
Ensembl chr 9:11,842,190...11,844,843
JBrowse link
G CD86 CD86 molecule severity ISO protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human) RGD PMID:24283754 RGD:11354967 NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
JBrowse link
G CDK6 cyclin dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24736461 NCBI chr14:18,178,352...18,413,869
Ensembl chr14:18,188,429...18,419,869
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A disease_progression
no_association
susceptibility
ISO DNA:deletion: :
DNA:missense mutations:cds:
ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia
RGD
ClinVar
PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 More... RGD:11057958 RGD:11251764 RGD:11252081 RGD:11252082 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:27993330 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684604 NCBI chr 8:3,423,046...3,425,595
Ensembl chr 8:3,423,040...3,425,217
JBrowse link
G CFB complement factor B ISO DNA:missense mutation:p.R32Q b(human) RGD PMID:6958349 RGD:11041155 NCBI chr12:1,400,143...1,406,267 JBrowse link
G CREBBP CREB binding protein disease_progression ISO DNA:mutations:multiple RGD PMID:25917266 RGD:11060149 NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176
JBrowse link
G CRLF2 cytokine receptor like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194 NCBI chr  X:780,924...801,961
Ensembl chr  X:780,711...802,836
JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO RGD PMID:9250830 RGD:11039038 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 severity ISO RGD PMID:8562939 RGD:734840 NCBI chr30:38,465,486...38,498,365
Ensembl chr30:38,465,241...38,497,971
JBrowse link
G CYBA cytochrome b-245 alpha chain ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:19222940 RGD:11040545 NCBI chr 5:64,692,865...64,701,056
Ensembl chr 5:64,692,123...64,704,893
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 no_association
susceptibility
ISO DNA:polymorphism:3'UTR:3801T>C(human)
DNA:polymorphism:cds:2452C>A(p.T461N)(human)
DNA:polymorphism:3"UTR:rs4646903(human)
RGD PMID:16676594 PMID:22964275 PMID:23725389 RGD:11352714 RGD:11352725 RGD:11352728 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr30:37,818,400...37,824,192
Ensembl chr30:37,799,140...37,824,135
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554
JBrowse link
G CYP2D15 cytochrome P450 family 2 subfamily D member 15 susceptibility ISO DNA:polymorphisms: :
DNA:SNP,deletion:splice junction,exon:1934G>A(human)
RGD PMID:11037802 PMID:19593802 RGD:11252111 RGD:11352820 NCBI chr10:23,255,259...23,259,380
Ensembl chr10:23,255,249...23,259,298
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11774269 NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754
JBrowse link
G DHFR dihydrofolate reductase disease_progression ISO DNA:polymorphisms, haplotype:promoter:
DNA:polymorphisms: :-317A>G, 829C>T (human)
RGD PMID:9226157 PMID:12972803 PMID:19861437 PMID:22969948 RGD:11039542 RGD:11039543 RGD:11039544 RGD:11039545 NCBI chr 3:26,521,214...26,556,065 JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO DNA:polymorphisms, haplotypes:cds:multiple
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human)
RGD PMID:9744491 PMID:22434102 RGD:11041749 RGD:11041762 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DNMT3A DNA methyltransferase 3 alpha treatment ISO DNA:mutations:exon, intron:p.R882(human) RGD PMID:25242092 RGD:11041125 NCBI chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902
JBrowse link
G DNTT DNA nucleotidylexotransferase ISO protein:increased activity:peripheral blood,bone marrow: RGD PMID:7020399 RGD:8694149 NCBI chr28:9,729,812...9,759,019
Ensembl chr28:9,729,814...9,759,008
JBrowse link
G DPYD dihydropyrimidine dehydrogenase disease_progression
no_association
ISO DNA:splice-site mutation:intron:IVS14+1G>A (human)
DNA:SNPs: :2194G>A, 1156G>T (human)
DNA:SNP: :85T>C (human)
RGD PMID:26846104 RGD:11098453 NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923
JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32889036 NCBI chr 9:48,031,593...48,110,954
Ensembl chr 9:48,032,709...48,175,828
JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32889036 NCBI chr12:1,341,202...1,354,602
Ensembl chr12:1,341,191...1,354,584
JBrowse link
G ENG endoglin disease_progression ISO RGD PMID:17572488 RGD:11041565 NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064
JBrowse link
G EPHX1 epoxide hydrolase 1 susceptibility
no_association
ISO DNA:polymorphisms:exon
DNA:SNPs:exon:rs1051740, rs2234922 (human)
DNA:missense mutation, haplotype:exon:p.H139R (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, haplotype:exon:p.Y113H (human)
RGD
CTD
PMID:19593802 PMID:21983886 PMID:22200898 PMID:22930568 RGD:11252110 RGD:11252111 RGD:11252113 RGD:11252114 NCBI chr 7:38,964,319...39,004,902
Ensembl chr 7:38,964,338...38,999,238
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human)
DNA:SNPs: :8092C>A, 19007G>A (human)
RGD PMID:16435384 PMID:16723154 RGD:11252160 RGD:11340204 NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit no_association ISO DNA:missense mutations: :p.D312N, p.K751Q (human)
DNA:haplotype
RGD PMID:19101034 PMID:21987080 RGD:11252192 RGD:11340201 NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
JBrowse link
G ERG ETS transcription factor ERG ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:27993330 NCBI chr31:33,456,902...33,562,704
Ensembl chr31:33,497,209...33,515,272
JBrowse link
G ETV6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:26102509 NCBI chr27:34,351,206...34,587,060
Ensembl chr27:34,343,390...34,587,060
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:8429686 RGD:11340211 NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607
JBrowse link
G FAS Fas cell surface death receptor disease_progression ISO protein:increased expression:CD34+ bone marrow cell RGD PMID:9711907 PMID:10500800 RGD:11049148 RGD:11049157 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FGA fibrinogen alpha chain ISO protein:increased expression:serum (human) RGD PMID:25317080 RGD:11040558 NCBI chr15:52,238,305...52,247,017
Ensembl chr15:52,236,198...52,246,975
JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar
OMIM
PMID:11290608 PMID:11442493 PMID:14604974 PMID:14670924 PMID:15256420 More... NCBI chr25:11,551,372...11,670,891
Ensembl chr25:11,581,206...11,692,284
JBrowse link
G FPGS folylpolyglutamate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25013492 NCBI chr 9:55,590,092...55,612,639
Ensembl chr 9:55,585,970...55,599,028
JBrowse link
G GATA3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35115686 NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760
JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:blood: RGD PMID:19360458 RGD:11040460 NCBI chr 9:51,380,697...51,394,679
Ensembl chr 9:51,380,696...51,392,812
JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia OMIM
ClinVar
PMID:25485910 PMID:25741868 PMID:27108799 PMID:28492532 PMID:32134617 More... NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295
JBrowse link
G GPI glucose-6-phosphate isomerase ISO RGD PMID:6589021 RGD:11051848 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:17317918 PMID:24698347 RGD:11352774 RGD:11352812 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
JBrowse link
G GSR glutathione-disulfide reductase ISO RGD PMID:24191316 RGD:11059506 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
JBrowse link
G GSTP1 glutathione S-transferase pi 1 disease_progression
susceptibility
no_association
ISO DNA:haplotype:cds:
DNA:transition mutation:exon:
DNA:polymorphism: :1578 a>G(human)
RGD PMID:10666194 PMID:15738600 PMID:23979883 RGD:10450829 RGD:10755321 RGD:10755417 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
JBrowse link
G H1-2 H1.2 linker histone, cluster member susceptibility ISO DNA:SNP, haplotype:enhancer: (rs807212) (human) RGD PMID:19806355 RGD:10755490 NCBI chr35:24,009,304...24,011,602 JBrowse link
G HCK HCK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17344919 NCBI chr24:21,473,424...21,513,673
Ensembl chr24:21,473,305...21,513,564
JBrowse link
G HDAC1 histone deacetylase 1 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186
JBrowse link
G HDAC2 histone deacetylase 2 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578
JBrowse link
G HDAC4 histone deacetylase 4 treatment ISO RGD PMID:23948281 RGD:9681454 NCBI chr25:49,318,621...49,545,314
Ensembl chr25:49,317,349...49,453,478
JBrowse link
G HFE homeostatic iron regulator no_association ISO DNA:missense mutation:cds:p.C282Y (human)
DNA:missense mutation:cds:p.H63D (human)
DNA:missense mutation: :p.H63D (human)
RGD PMID:10627122 PMID:17107905 RGD:10755557 RGD:10755558 NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413
JBrowse link
G HK1 hexokinase 1 ISO protein:decreased activity:platelet RGD PMID:21921332 RGD:11353881 NCBI chr 4:20,396,761...20,516,889
Ensembl chr 4:20,421,526...20,518,211
JBrowse link
G HLF HLF transcription factor, PAR bZIP family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr 9:30,321,090...30,380,480
Ensembl chr 9:30,327,495...30,377,175
JBrowse link
G HOXD4 homeobox D4 ISO ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to ClinVar PMID:15776434
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219
JBrowse link
G IFNG interferon gamma susceptibility ISO DNA:SNP: :rs2069727(human) RGD PMID:21067287 RGD:10755691 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphocytic, susceptibility to, 2 ClinVar PMID:25741868 PMID:27993330 PMID:28492532 NCBI chr18:1,661,851...1,750,987
Ensembl chr18:1,661,690...1,770,768
JBrowse link
G IKZF2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr37:20,508,647...20,662,549
Ensembl chr37:20,516,239...20,661,298
JBrowse link
G IKZF3 IKAROS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr 9:22,643,482...22,733,988
Ensembl chr 9:22,643,640...22,728,385
JBrowse link
G IL10 interleukin 10 treatment ISO protein:decreased expression:blood RGD PMID:15860861 PMID:21653647 RGD:11049158 RGD:11049169 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IRF4 interferon regulatory factor 4 ISO DNA:SNP:intron:rs12203592 (human) RGD PMID:19897031 RGD:11526162 NCBI chr35:760,367...782,314
Ensembl chr35:767,011...781,339
JBrowse link
G ITPA inosine triphosphatase treatment
no_association
ISO DNA:SNPs:exon:94C>A, 138G>A (human)
DNA:SNP:intron
RGD PMID:22009189 RGD:10766474 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163
JBrowse link
G KDM2B lysine demethylase 2B ISO mRNA:increased expression:bone marrow (human) RGD PMID:21310926 RGD:9588255 NCBI chr26:7,625,857...7,746,049
Ensembl chr26:7,598,931...7,745,113
JBrowse link
G KDM3B lysine demethylase 3B ISO protein:increased expression:bone marrow, mononuclear cell (human) RGD PMID:22615488 RGD:9586728 NCBI chr11:25,954,352...26,024,919
Ensembl chr11:25,943,864...26,023,866
JBrowse link
G KDM6A lysine demethylase 6A severity ISO DNA:mutations:cds:multiple (human) RGD PMID:22377896 RGD:9684944 NCBI chr  X:38,745,854...38,964,029
Ensembl chr  X:38,745,854...38,959,842
JBrowse link
G KMT2A lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545
CTD
MouseDO
PMID:24736461 PMID:25730765 NCBI chr 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971
JBrowse link
G KRAS KRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:17910045 PMID:25917266 RGD:11060148 RGD:11060149 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G LMO2 LIM domain only 2 ISO OMIM:247640 | OMIM:613065 MouseDO
G LOC100683783 double homeobox protein 4C-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776115 NCBI chr17:64,277,421...64,282,701 JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:16353080 RGD:11352810 NCBI chr 7:6,602,762...6,646,561 JBrowse link
G MEFV MEFV innate immunity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M680I(human) RGD PMID:22942567 RGD:11531121 NCBI chr 6:37,964,776...37,984,830
Ensembl chr 6:37,970,608...37,983,737
JBrowse link
G MTHFR methylenetetrahydrofolate reductase disease_progression
treatment
ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human)
DNA:missense mutation:cds:677C>T (human)
CTD
RGD
PMID:16706930 PMID:19923983 PMID:21644011 RGD:10449398 RGD:10449407 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase no_association
disease_progression
susceptibility
ISO DNA:polymorphism: :2756A>G(human)
DNA:polymorphism: :66A>G(human)
DNA:SNP::rs10925235(human)
RGD PMID:15159311 PMID:21618417 PMID:22453148 PMID:26605150 RGD:11531136 RGD:11531137 RGD:11531140 RGD:11531141 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:SNP: :rs3776455(human)
DNA:haplotype:cds:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17136115 PMID:23940529 RGD:11531133 RGD:11531135 NCBI chr34:6,068,572...6,119,580
Ensembl chr34:6,070,046...6,098,312
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:25784651 RGD:11532748 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
JBrowse link
G NBN nibrin ISO ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia OMIM
ClinVar
PMID:9590180 PMID:11325820 PMID:12353271 PMID:14559852 PMID:15338273 More... NCBI chr29:35,416,093...35,477,569
Ensembl chr29:35,416,093...35,477,563
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility
disease_progression
ISO DNA:SNP: :rs3918186(human)
DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human)
RGD PMID:20510681 PMID:23922896 RGD:11533639 RGD:11533646 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G NOTCH3 notch receptor 3 ISO OMIM:247640 | OMIM:613065 MouseDO NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human)
DNA:mutation: :609C>T (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11774269 PMID:17332311 PMID:18444911 RGD:10769347 RGD:10769359 NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860
JBrowse link
G NRAS NRAS proto-oncogene, GTPase disease_progression ISO DNA:missense mutation:cds: RGD PMID:25204082 RGD:11535045 NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:24076604 NCBI chr 3:62,164,888...62,228,006
Ensembl chr 3:62,167,939...62,228,035
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO CTD Direct Evidence: marker/mechanism CTD PMID:23377183 NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235
JBrowse link
G NUP214 nucleoporin 214 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 9:52,840,300...52,943,785
Ensembl chr 9:52,841,096...52,947,770
JBrowse link
G P2RY8 P2Y receptor family member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194 NCBI chr  X:1,060,204...1,097,471 JBrowse link
G PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr29:28,207,445...28,340,812
Ensembl chr29:28,211,031...28,263,322
JBrowse link
G PAX5 paired box 5 susceptibility ISO ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to, 3 OMIM
ClinVar
PMID:24013638 PMID:24728327 PMID:25741868 PMID:27993330 PMID:28492532 More... NCBI chr11:53,194,905...53,390,204
Ensembl chr11:53,201,344...53,390,974
JBrowse link
G PON1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M (rs854560), p.Q192R (rs662) (human) RGD PMID:22976839 RGD:11552580 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator severity ISO mRNA:increased expression:blood (human) RGD PMID:27275197 RGD:11535025 NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112
JBrowse link
G PRDM14 PR/SET domain 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043588 NCBI chr29:19,203,798...19,220,149
Ensembl chr29:19,203,807...19,220,518
JBrowse link
G PTEN phosphatase and tensin homolog ISO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839
JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094
JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E severity ISO mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) RGD PMID:23915977 RGD:10768836 NCBI chr38:515,808...521,536
Ensembl chr38:515,860...521,535
JBrowse link
G TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor ISO OMIM NCBI chr15:13,446,752...13,462,038
Ensembl chr15:13,449,481...13,462,047
JBrowse link
G TAL2 TAL bHLH transcription factor 2 ISO OMIM NCBI chr11:61,425,927...61,484,525
Ensembl chr11:61,456,727...61,482,348
JBrowse link
G TCF3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr20:57,255,091...57,284,223
Ensembl chr20:57,254,384...57,283,981
JBrowse link
G TCN2 transcobalamin 2 ISO protein:altered activity:plasma: RGD PMID:8754152 RGD:11059889 NCBI chr26:23,693,664...23,710,342
Ensembl chr26:23,693,773...23,709,832
JBrowse link
G TERT telomerase reverse transcriptase ISO DNA:SNPs:promoter, introns:g.1296486C>T, g.12866516A>C, g.1279790G>A (rs2735940, rs2736100, rs10069690) (human) RGD PMID:15621763 PMID:23066086 RGD:11038654 RGD:11038667 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
G TM9SF2 transmembrane 9 superfamily member 2 ISO mRNA:increased expression:bone marrow, mononuclear cells (human) RGD PMID:12730115 RGD:2317244 NCBI chr22:49,515,350...49,578,519
Ensembl chr22:49,515,382...49,577,905
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G TPMT thiopurine S-methyltransferase treatment
no_association
ISO DNA:SNPs:multiple
DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human)
DNA:SNPs: :multiple
DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human)
RGD PMID:17164697 PMID:22009189 PMID:24499706 RGD:10766474 RGD:11038720 RGD:11038723 NCBI chr35:16,928,991...16,953,891
Ensembl chr35:16,929,240...16,953,229
JBrowse link
G TTC12 tetratricopeptide repeat domain 12 ISO DNA:hypermethylation:5'end:CpG dinucleotide RGD PMID:17657212 RGD:405866376 NCBI chr 5:19,829,873...19,874,934
Ensembl chr 5:19,829,874...19,873,145
JBrowse link
G TYMS thymidylate synthetase treatment ISO DNA:repeats: : rs347430033(human) RGD PMID:25007187 RGD:11080979 NCBI chr 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747
JBrowse link
G VPREB1 V-set pre-B cell surrogate light chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr26:28,833,763...28,834,870
Ensembl chr26:28,833,136...28,834,679
JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility
no_association
ISO DNA:missense mutation: :p.R194W (human)
DNA:missense mutation, haplotype: :p.R399Q (human)
DNA:missense mutation: :p.R399Q (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19101034 PMID:21983886 RGD:11252110 RGD:11252192 NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816
JBrowse link
Acute Lymphoblastic Leukemia, with Lymphomatous Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:10988075 PMID:11423618 PMID:11853795 PMID:11861307 PMID:11964322 More... NCBI chr 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307
JBrowse link
G CRLF2 cytokine receptor like factor 2 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:19907440 PMID:19965641 PMID:20018760 PMID:22368272 NCBI chr  X:780,924...801,961
Ensembl chr  X:780,711...802,836
JBrowse link
G CYP2B6 cytochrome P450 2B11 susceptibility ISO DNA:polymorphism:G15631T RGD PMID:19144407 RGD:6480472 NCBI chr 1:112,817,561...112,833,294
Ensembl chr 1:112,816,502...112,833,293
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:25705862 PMID:26619011 PMID:26942290 PMID:33448156 NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
JBrowse link
G IL7R interleukin 7 receptor ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:22897847 PMID:22955920 NCBI chr 4:72,633,528...72,668,242
Ensembl chr 4:72,636,325...72,668,300
JBrowse link
G INSL6 insulin like 6 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920 NCBI chr 1:93,457,854...93,474,777
Ensembl chr 1:93,459,945...93,474,793
JBrowse link
G JAK1 Janus kinase 1 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:20167706 More... NCBI chr 5:45,251,653...45,408,571
Ensembl chr 5:45,251,653...45,408,571
JBrowse link
G JAK2 Janus kinase 2 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997
JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: LYMPHOMATOUS ALL ClinVar PMID:10982185 PMID:16843266 PMID:18270328 PMID:20132407 PMID:20372971 More... NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805
JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOT8 acyl-CoA thioesterase 8 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,149,415...33,163,086
Ensembl chr24:33,128,290...33,163,050
JBrowse link
G ADA adenosine deaminase ISO ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
OMIM
ClinVar
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160
JBrowse link
G CCN5 cellular communication network factor 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,161,703...32,174,573
Ensembl chr24:32,161,216...32,173,866
JBrowse link
G CD247 CD247 molecule ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:17170122 PMID:25741868 PMID:26542031 PMID:27872624 PMID:28492532 More... NCBI chr 7:30,961,169...30,972,143 JBrowse link
G CD3G CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 NCBI chr 5:15,379,788...15,391,271
Ensembl chr 5:15,380,633...15,391,214
JBrowse link
G CD40 CD40 molecule ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CDH22 cadherin 22 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,424,567...33,492,162
Ensembl chr24:33,425,303...33,492,292
JBrowse link
G CTSA cathepsin A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,183,090...33,189,248
Ensembl chr24:33,183,090...33,189,248
JBrowse link
G DBNDD2 dysbindin domain containing 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,661,966...32,701,789
Ensembl chr24:32,697,708...32,700,203
JBrowse link
G DNTTIP1 deoxynucleotidyltransferase terminal interacting protein 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,102,756...33,127,445
Ensembl chr24:33,102,688...33,127,385
JBrowse link
G ELMO2 engulfment and cell motility 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,599,108...33,639,096
Ensembl chr24:33,600,444...33,626,665
JBrowse link
G FITM2 fat storage inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:31,810,511...31,814,547
Ensembl chr24:31,810,263...31,814,870
JBrowse link
G GDAP1L1 ganglioside induced differentiation associated protein 1 like 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:31,771,235...31,797,155
Ensembl chr24:31,758,172...31,797,465
JBrowse link
G GTSF1L gametocyte specific factor 1 like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:31,394,825...31,395,742
Ensembl chr24:31,394,627...31,395,377
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:31,847,864...31,908,337
Ensembl chr24:31,847,961...31,905,916
JBrowse link
G IFT52 intraflagellar transport 52 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:31,295,987...31,334,825
Ensembl chr24:31,296,015...31,334,808
JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency ClinVar PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 More... NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805
JBrowse link
G JPH2 junctophilin 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:31,664,106...31,674,487
Ensembl chr24:31,665,771...31,687,228
JBrowse link
G KCNK15 potassium two pore domain channel subfamily K member 15 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,193,293...32,199,070
Ensembl chr24:32,193,238...32,198,254
JBrowse link
G KCNS1 potassium voltage-gated channel modifier subfamily S member 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,472,292...32,478,986
Ensembl chr24:32,474,881...32,479,717
JBrowse link
G LOC100685852 protein WFDC9-like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,922,063...32,929,964
Ensembl chr24:32,926,995...32,929,081
JBrowse link
G LOC102151692 antileukoproteinase-like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,531,619...32,545,712 JBrowse link
G LOC119865675 WAP four-disulfide core domain protein 6A-like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532
G MATN4 matrilin 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,601,175...32,614,109
Ensembl chr24:32,599,508...32,613,872
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MYBL2 MYB proto-oncogene like 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:31,339,570...31,382,626
Ensembl chr24:31,343,997...31,382,624
JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
JBrowse link
G NCOA5 nuclear receptor coactivator 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,323,645...33,352,836
Ensembl chr24:33,322,650...33,352,809
JBrowse link
G NEURL2 neuralized E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,179,455...33,182,950
Ensembl chr24:33,180,731...33,182,714
JBrowse link
G OCSTAMP osteoclast stimulatory transmembrane protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,796,582...33,802,385
Ensembl chr24:33,796,027...33,802,270
JBrowse link
G OSER1 oxidative stress responsive serine rich 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:31,735,268...31,748,463
Ensembl chr24:31,735,664...31,748,587
JBrowse link
G PABPC1L poly(A) binding protein cytoplasmic 1 like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,327,479...32,348,964
Ensembl chr24:32,327,494...32,349,071
JBrowse link
G PCIF1 phosphorylated CTD interacting factor 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,214,370...33,225,922
Ensembl chr24:33,214,419...33,226,732
JBrowse link
G PI3 peptidase inhibitor 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,504,697...32,506,214
Ensembl chr24:32,504,675...32,506,214
JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,706,476...32,715,169
Ensembl chr24:32,706,028...32,715,168
JBrowse link
G PKIG cAMP-dependent protein kinase inhibitor gamma ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:31,983,131...32,083,307
Ensembl chr24:32,050,242...32,082,919
JBrowse link
G PLTP phospholipid transfer protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,189,098...33,199,935
Ensembl chr24:33,189,099...33,199,854
JBrowse link
G R3HDML R3H domain containing like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:31,829,484...31,839,355
Ensembl chr24:31,830,246...31,839,336
JBrowse link
G RAG1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar PMID:8810255 PMID:9630231 PMID:10635319 PMID:10701853 PMID:10891452 More... NCBI chr18:31,628,231...31,639,980
Ensembl chr18:31,630,737...31,641,660
JBrowse link
G RBPJL recombination signal binding protein for immunoglobulin kappa J region like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,615,934...32,625,183
Ensembl chr24:32,612,386...32,624,567
JBrowse link
G RIMS4 regulating synaptic membrane exocytosis 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,199,068...32,256,474
Ensembl chr24:32,203,410...32,256,480
JBrowse link
G SDC4 syndecan 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,628,704...32,648,809
Ensembl chr24:32,630,437...32,649,114
JBrowse link
G SERINC3 serine incorporator 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:31,961,828...31,982,265
Ensembl chr24:31,963,840...31,982,165
JBrowse link
G SLC12A5 solute carrier family 12 member 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,285,773...33,322,885
Ensembl chr24:33,285,852...33,321,567
JBrowse link
G SLC13A3 solute carrier family 13 member 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,810,594...33,884,169
Ensembl chr24:33,809,731...33,884,139
JBrowse link
G SLC2A10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,905,099...33,920,604
Ensembl chr24:33,905,203...33,919,454
JBrowse link
G SLC35C2 solute carrier family 35 member C2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,584,040...33,592,408
Ensembl chr24:33,584,082...33,597,571
JBrowse link
G SLPI secretory leukocyte peptidase inhibitor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,566,030...32,568,406
Ensembl chr24:32,566,026...32,568,420
JBrowse link
G SNX21 sorting nexin family member 21 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,143,459...33,149,418
Ensembl chr24:33,143,837...33,149,510
JBrowse link
G SPATA25 spermatogenesis associated 25 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,177,905...33,179,862
Ensembl chr24:33,178,697...33,179,766
JBrowse link
G SPINT3 serine peptidase inhibitor, Kunitz type 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,721,798...32,724,433
Ensembl chr24:32,721,798...32,724,408
JBrowse link
G SPINT4 serine peptidase inhibitor, Kunitz type 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,035,050...33,037,192
Ensembl chr24:33,034,698...33,036,124
JBrowse link
G STK4 serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,375,630...32,463,848
Ensembl chr24:32,375,189...32,521,042
JBrowse link
G SYS1 SYS1 golgi trafficking protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,661,665...32,666,267
Ensembl chr24:32,661,381...32,665,276
JBrowse link
G TNNC2 troponin C2, fast skeletal type ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,136,644...33,139,289
Ensembl chr24:33,128,290...33,163,050
JBrowse link
G TOMM34 translocase of outer mitochondrial membrane 34 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,351,015...32,368,744
Ensembl chr24:32,351,097...32,376,067
JBrowse link
G TOX2 TOX high mobility group box family member 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:31,523,323...31,656,361
Ensembl chr24:31,522,798...31,656,373
JBrowse link
G TP53RK TP53 regulating kinase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,895,530...33,898,461
Ensembl chr24:33,895,640...33,898,446
JBrowse link
G TP53TG5 TP53 target 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,672,193...32,675,873
Ensembl chr24:32,672,985...32,675,629
JBrowse link
G TTPAL alpha tocopherol transfer protein like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:31,920,499...31,958,799
Ensembl chr24:31,944,626...31,955,439
JBrowse link
G UBE2C ubiquitin conjugating enzyme E2 C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,128,300...33,133,637
Ensembl chr24:33,128,335...33,132,023
JBrowse link
G WFDC10A WAP four-disulfide core domain 10A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,909,505...32,910,890
Ensembl chr24:32,909,505...32,910,860
JBrowse link
G WFDC10B WAP four-disulfide core domain 10B ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,004,209...33,006,293
Ensembl chr24:33,004,365...33,006,332
JBrowse link
G WFDC11 WAP four-disulfide core domain 11 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,952,268...33,002,489 JBrowse link
G WFDC13 WAP four-disulfide core domain 13 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,011,202...33,029,260
Ensembl chr24:33,011,272...33,019,696
JBrowse link
G WFDC2 WAP four-disulfide core domain 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,759,763...32,764,620
Ensembl chr24:32,759,696...32,764,620
JBrowse link
G WFDC3 WAP four-disulfide core domain 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,087,487...33,102,721
Ensembl chr24:33,087,547...33,102,872
JBrowse link
G WFDC5 WAP four-disulfide core domain 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,487,339...32,492,660
Ensembl chr24:32,487,348...32,510,990
JBrowse link
G WFDC8 WAP four-disulfide core domain 8 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,813,432...32,829,108
Ensembl chr24:32,814,662...32,823,340
JBrowse link
G YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:32,304,808...32,325,789
Ensembl chr24:32,304,812...32,323,938
JBrowse link
G ZNF334 zinc finger protein 334 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,685,303...33,704,217 JBrowse link
G ZNF335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,226,636...33,246,496
Ensembl chr24:33,226,688...33,245,901
JBrowse link
G ZSWIM1 zinc finger SWIM-type containing 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,174,950...33,177,754
Ensembl chr24:33,176,156...33,177,526
JBrowse link
G ZSWIM3 zinc finger SWIM-type containing 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr24:33,163,260...33,173,938
Ensembl chr24:33,163,491...33,173,954
JBrowse link
adult T-cell leukemia/lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIRC5 baculoviral IAP repeat containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16497974 NCBI chr 9:2,930,308...2,959,307 JBrowse link
G BMP6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18688853 NCBI chr35:7,780,763...7,833,095
Ensembl chr35:7,804,231...7,831,845
JBrowse link
G CARD11 caspase recruitment domain family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 6:14,273,115...14,331,029
Ensembl chr 6:14,210,114...14,332,094
JBrowse link
G CCR4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr23:3,844,072...3,847,770
Ensembl chr23:3,844,173...3,845,255
JBrowse link
G CCR7 C-C motif chemokine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:22,077,976...22,092,818
Ensembl chr 9:22,068,775...22,090,656
JBrowse link
G CD163 CD163 molecule disease_progression ISO protein:increased expression:lymph node tumor (human) RGD PMID:23557330 RGD:42721976 NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106
JBrowse link
G CD274 CD274 molecule disease_progression ISO RGD PMID:27418641 RGD:41412177 NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
JBrowse link
G CD28 CD28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr37:12,503,849...12,536,362
Ensembl chr37:12,503,811...12,532,854
JBrowse link
G CD68 CD68 molecule disease_progression ISO protein:increased expression:lymph node tumor (human) RGD PMID:23557330 RGD:42721976 NCBI chr 5:32,500,899...32,503,355
Ensembl chr 5:32,501,380...32,503,183
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380
JBrowse link
G CD86 CD86 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
JBrowse link
G CSNK1A1 casein kinase 1 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 4:59,435,530...59,485,591
Ensembl chr 4:59,435,764...59,483,475
JBrowse link
G CSNK2A1 casein kinase 2 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr24:20,333,593...20,390,341 JBrowse link
G CSNK2B casein kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr12:1,149,467...1,154,417
Ensembl chr12:1,149,548...1,154,418
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G FAS Fas cell surface death receptor susceptibility ISO protein:increased expression:peripheral blood mononuclear cell:
DNA:polymorphism:promoter: -670 G>A(human)
RGD PMID:7513372 PMID:17962369 RGD:11049147 RGD:11049453 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FOXP3 forkhead box P3 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:23797717 PMID:23962110 RGD:38456007 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758
JBrowse link
G FYN FYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr12:68,105,060...68,316,630
Ensembl chr12:68,075,184...68,316,541
JBrowse link
G GATA3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760
JBrowse link
G GPR183 G protein-coupled receptor 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr22:49,332,665...49,347,721
Ensembl chr22:49,333,188...49,347,593
JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr14:39,498,805...39,509,034
Ensembl chr14:39,500,897...39,508,952
JBrowse link
G ICOS inducible T cell costimulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr37:12,663,839...12,735,266
Ensembl chr37:12,670,999...12,733,458
JBrowse link
G IFNG interferon gamma treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:8800741 PMID:23962110 RGD:10755707 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IKZF2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr37:20,508,647...20,662,549
Ensembl chr37:20,516,239...20,661,298
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:8704212 PMID:23962110 RGD:11049460 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G IL5 interleukin 5 disease_progression ISO protein:increased expression:serum RGD PMID:16425276 RGD:11354942 NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum (human) RGD PMID:10374863 RGD:11060275 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G IRF4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr35:760,367...782,314
Ensembl chr35:767,011...781,339
JBrowse link
G JAK3 Janus kinase 3 ISO DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) RGD PMID:21821710 RGD:11531131 NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805
JBrowse link
G MYB MYB proto-oncogene, transcription factor disease_progression ISO mRNA:splice variants:CD4+ T cell: RGD PMID:27307595 RGD:11532670 NCBI chr 1:27,908,309...27,991,984
Ensembl chr 1:27,908,364...27,991,969
JBrowse link
G NOTCH1 notch receptor 1 ISO DNA:mutations:multiple (human) RGD PMID:16707600 RGD:1580759 NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277
JBrowse link
G NRAS NRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:21586752 RGD:11535055 NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
JBrowse link
G PLCG1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr24:29,198,536...29,213,899
Ensembl chr24:29,198,556...29,214,714
JBrowse link
G PRKCB protein kinase C beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 6:21,742,970...22,064,360
Ensembl chr 6:21,742,973...22,065,185
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24090995 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G TAL2 TAL bHLH transcription factor 2 ISO RGD PMID:1763056 RGD:1599285 NCBI chr11:61,425,927...61,484,525
Ensembl chr11:61,456,727...61,482,348
JBrowse link
G TERF2 telomeric repeat binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643074 NCBI chr 5:80,278,224...80,305,315
Ensembl chr 5:80,277,505...80,306,342
JBrowse link
G TLX1 T cell leukemia homeobox 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:1683261 PMID:1717256 RGD:1599439 NCBI chr28:13,807,428...13,813,875
Ensembl chr28:13,807,720...13,813,849
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355
JBrowse link
G TP73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839
JBrowse link
G VAV1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr20:53,482,239...53,532,399
Ensembl chr20:53,482,498...53,531,296
JBrowse link
agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLNK B cell linker susceptibility ISO DNA:splice-site mutation
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10583958 RGD:1600518 NCBI chr28:9,622,438...9,700,335
Ensembl chr28:9,622,752...9,732,639
JBrowse link
G BTK Bruton tyrosine kinase susceptibility ISO DNA:insertions, point mutations
ClinVar Annotator: match by term: Agammaglobulinemia
RGD
ClinVar
PMID:8162018 PMID:10352268 RGD:1600526 NCBI chr  X:75,270,952...75,302,663
Ensembl chr  X:75,270,979...75,302,562
JBrowse link
G CD19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 6:18,419,092...18,425,524
Ensembl chr 6:18,418,241...18,425,400
JBrowse link
G CD79A CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:112,411,281...112,414,827
Ensembl chr 1:112,411,281...112,427,381
JBrowse link
G CD79B CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:11,834,230...11,844,946
Ensembl chr 9:11,842,190...11,844,843
JBrowse link
G LRRC8A leucine rich repeat containing 8 VRAC subunit A ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:14660746 RGD:1599837 NCBI chr 9:54,732,847...54,760,077
Ensembl chr 9:54,734,505...54,756,780
JBrowse link
G TCF3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:57,255,091...57,284,223
Ensembl chr20:57,254,384...57,283,981
JBrowse link
agammaglobulinemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:7678697 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 More... NCBI chr  X:75,270,952...75,302,663
Ensembl chr  X:75,270,979...75,302,562
JBrowse link
G CD79A CD79a molecule ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:112,411,281...112,414,827
Ensembl chr 1:112,411,281...112,427,381
JBrowse link
agammaglobulinemia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPI1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 10, autosomal dominant OMIM
ClinVar
PMID:25741868 PMID:33951726 NCBI chr18:42,253,849...42,269,497
Ensembl chr18:42,253,811...42,269,727
JBrowse link
agammaglobulinemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C26H22orf15 chromosome 26 C22orf15 homolog ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr26:28,744,203...28,747,320
Ensembl chr26:28,745,183...28,746,455
JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr26:28,742,466...28,744,370
Ensembl chr26:28,742,526...28,744,369
JBrowse link
G DERL3 derlin 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr26:28,688,307...28,690,400
Ensembl chr26:28,688,106...28,690,400
JBrowse link
G MIF macrophage migration inhibitory factor ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532
G MMP11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr26:28,730,173...28,741,506
Ensembl chr26:28,727,332...28,741,415
JBrowse link
G SLC2A11 solute carrier family 2 member 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr26:28,652,173...28,673,817
Ensembl chr26:28,652,974...28,673,724
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783
JBrowse link
G VPREB3 V-set pre-B cell surrogate light chain 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr26:28,750,702...28,751,928
Ensembl chr26:28,750,742...28,751,792
JBrowse link
G ZNF70 zinc finger protein 70 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr26:28,753,160...28,761,633
Ensembl chr26:28,756,927...28,758,276
JBrowse link
agammaglobulinemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD79A CD79a molecule ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:10525050 PMID:11920841 PMID:16199547 PMID:17576681 More... NCBI chr 1:112,411,281...112,414,827
Ensembl chr 1:112,411,281...112,427,381
JBrowse link
G RPS19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:112,418,800...112,427,445
Ensembl chr 1:112,411,281...112,427,381
JBrowse link
agammaglobulinemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr28:9,101,578...9,148,063
Ensembl chr28:9,102,282...9,147,992
JBrowse link
G BLNK B cell linker ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:10583958 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr28:9,622,438...9,700,335
Ensembl chr28:9,622,752...9,732,639
JBrowse link
G CC2D2B coiled-coil and C2 domain containing 2B ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr28:9,371,454...9,480,331
Ensembl chr28:9,447,040...9,480,252
JBrowse link
G CCNJ cyclin J ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr28:9,491,683...9,511,585
Ensembl chr28:9,491,560...9,508,910
JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr28:9,181,851...9,311,835
Ensembl chr28:9,211,050...9,323,939
JBrowse link
G TCTN3 tectonic family member 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr28:9,155,758...9,181,721
Ensembl chr28:9,156,797...9,181,731
JBrowse link
G ZNF518A zinc finger protein 518A ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:9536098 PMID:10583958 PMID:17576681 PMID:24582315 PMID:25741868 More... NCBI chr28:9,572,436...9,681,510
Ensembl chr28:9,592,924...9,597,396
JBrowse link
agammaglobulinemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRRC8A leucine rich repeat containing 8 VRAC subunit A ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO LRRC8A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant | ClinVar Annotator: match by term: LRRC8A-related condition OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:54,732,847...54,760,077
Ensembl chr 9:54,734,505...54,756,780
JBrowse link
agammaglobulinemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD79B CD79b molecule ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:17675462 PMID:17709424 PMID:24033266 More... NCBI chr 9:11,834,230...11,844,946
Ensembl chr 9:11,842,190...11,844,843
JBrowse link
agammaglobulinemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive OMIM
ClinVar
PMID:18414213 PMID:22351933 PMID:24033266 PMID:25133428 PMID:25488983 More... NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970
JBrowse link
Agammaglobulinemia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TCF3 transcription factor 3 ISO ClinVar Annotator: match by term: TCF3-related condition ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34618307 NCBI chr20:57,255,091...57,284,223
Ensembl chr20:57,254,384...57,283,981
JBrowse link
agammaglobulinemia 8A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TCF3 transcription factor 3 ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA 8A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21693761 PMID:24216514 PMID:25741868 More... NCBI chr20:57,255,091...57,284,223
Ensembl chr20:57,254,384...57,283,981
JBrowse link
agammaglobulinemia 8B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TCF3 transcription factor 3 ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO TCF3 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28532655 PMID:30063982 PMID:34618307 NCBI chr20:57,255,091...57,284,223
Ensembl chr20:57,254,384...57,283,981
JBrowse link
agammaglobulinemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC39A7 solute carrier family 39 member 7 ISO ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30718914 NCBI chr12:2,663,807...2,667,527
Ensembl chr12:2,663,515...2,669,917
JBrowse link
anaplastic large cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16151469 PMID:19503098 PMID:21345110 PMID:22155737 PMID:22920921 More... NCBI chr17:23,010,308...23,688,841
Ensembl chr17:23,010,308...23,688,841
JBrowse link
G HSP90AA1 heat shock protein 90 alpha family class A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157164 NCBI chr 8:70,091,203...70,096,107
Ensembl chr 8:70,092,217...70,095,243
JBrowse link
G IRF4 interferon regulatory factor 4 ISO DNA:translocation RGD PMID:18987657 RGD:11526155 NCBI chr35:760,367...782,314
Ensembl chr35:767,011...781,339
JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:12145210 RGD:1549449 NCBI chr20:49,358,904...49,360,746
Ensembl chr20:49,359,399...49,360,442
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261581 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10908157 PMID:17261581 NCBI chr 2:84,185,445...84,225,986
Ensembl chr 2:84,186,961...84,232,675
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737
angioimmunoblastic T-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TET2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Angioimmunoblastic T-cell lymphoma ClinVar PMID:19797729 PMID:27210295 PMID:27276561 PMID:28337768 PMID:28492532 More... NCBI chr32:26,021,745...26,145,109
Ensembl chr32:26,059,693...26,143,536
JBrowse link
autoimmune lymphoproliferative syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:16199547 PMID:18948840 PMID:22237435 PMID:28492532 More... NCBI chr26:38,700,434...38,714,915
Ensembl chr26:38,700,480...38,711,753
JBrowse link
G ANKRD22 ankyrin repeat domain 22 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr26:38,623,133...38,645,522
Ensembl chr26:38,623,214...38,644,170
JBrowse link
G ANKRD45 ankyrin repeat domain 45 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:25,508,417...25,560,123
Ensembl chr 7:25,508,239...25,659,475
JBrowse link
G C7H1orf105 chromosome 7 C1orf105 homolog ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:26,490,012...26,561,542 JBrowse link
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:11973654 PMID:25741868 PMID:27577878 PMID:27872624 PMID:28492532 More... NCBI chr37:10,315,867...10,350,585 JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
JBrowse link
G CENPL centromere protein L ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:25,406,881...25,430,084
Ensembl chr 7:25,407,183...25,423,219
JBrowse link
G CH25H cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr26:38,884,356...38,885,728 JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:25,378,705...25,406,975
Ensembl chr 7:25,378,705...25,406,947
JBrowse link
G DNM3 dynamin 3 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:26,569,708...27,024,939
Ensembl chr 7:26,574,453...27,024,759
JBrowse link
G FAS Fas cell surface death receptor ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant OMIM
ClinVar
PMID:1090885 PMID:2149015 PMID:4852259 PMID:7540117 PMID:9028321 More... NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FASLG Fas ligand susceptibility ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar
OMIM
PMID:8787672 PMID:9536098 PMID:16627752 PMID:17576681 PMID:17605793 More... NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
JBrowse link
G IFIT2 interferon induced protein with tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr 4:63,020...71,734
Ensembl chr 4:62,801...69,868
JBrowse link
G IFIT3 interferon induced protein with tetratricopeptide repeats 3 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr 4:87,987...105,879
Ensembl chr 4:84,720...117,210
JBrowse link
G IFIT5 interferon induced protein with tetratricopeptide repeats 5 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr28:4,318,616...4,329,811
Ensembl chr28:4,318,732...4,328,785
JBrowse link
G KLHL20 kelch like family member 20 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:25,430,490...25,484,245
Ensembl chr 7:25,430,745...25,484,311
JBrowse link
G LIPA lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436
JBrowse link
G LIPF lipase F, gastric type ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr26:38,469,876...38,486,881
Ensembl chr26:38,424,721...38,588,175
JBrowse link
G LIPJ lipase family member J ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr26:38,419,821...38,441,234
Ensembl chr26:38,424,721...38,588,175
JBrowse link
G LIPK lipase family member K ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr26:38,534,085...38,557,549
Ensembl chr26:38,424,721...38,588,175
JBrowse link
G LIPM lipase family member M ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr26:38,608,237...38,622,521 JBrowse link
G LIPN lipase family member N ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr26:38,573,408...38,588,171 JBrowse link
G LOC488947 interferon-induced protein with tetratricopeptide repeats 1 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr 4:125,675...133,304
Ensembl chr 4:84,720...132,981
JBrowse link
G METTL13 methyltransferase 13, eEF1A N-terminus and K55 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:27,159,425...27,175,144 JBrowse link
G MIR199-2 microRNA mir-199-2 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:26,812,766...26,812,824
Ensembl chr 7:26,812,735...26,812,838
JBrowse link
G MIR214 microRNA mir-214 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:26,818,559...26,818,668
Ensembl chr 7:26,818,559...26,818,670
JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:21376533 RGD:13204846 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MYOC myocilin ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:27,335,314...27,346,821
Ensembl chr 7:27,335,314...27,346,820
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
JBrowse link
G PIGC phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:26,548,894...26,551,702
Ensembl chr 7:26,550,524...26,551,417
JBrowse link
G PRDX6 peroxiredoxin 6 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:25,663,238...25,675,855
Ensembl chr 7:25,663,579...25,675,754
JBrowse link
G RC3H1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:25,265,836...25,312,417
Ensembl chr 7:25,233,235...25,305,174
JBrowse link
G RNLS renalase, FAD dependent amine oxidase ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr26:38,137,662...38,413,666
Ensembl chr26:38,083,371...38,414,033
JBrowse link
G SERPINC1 serpin family C member 1 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:25,322,668...25,333,022
Ensembl chr 7:25,316,129...25,332,987
JBrowse link
G SLC16A12 solute carrier family 16 member 12 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr28:4,343,773...4,430,653
Ensembl chr28:4,345,546...4,421,234
JBrowse link
G SLC9C2 solute carrier family 9 member C2 (putative) ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:25,553,745...25,659,461
Ensembl chr 7:25,508,239...25,659,475
JBrowse link
G STAMBPL1 STAM binding protein like 1 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr26:38,665,418...38,693,776
Ensembl chr26:38,666,915...38,693,776
JBrowse link
G SUCO SUN domain containing ossification factor ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:26,375,414...26,410,001
Ensembl chr 7:26,376,990...26,464,125
JBrowse link
G TNFSF18 TNF superfamily member 18 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:25,983,064...25,994,605
Ensembl chr 7:25,963,719...25,992,801
JBrowse link
G TNFSF4 TNF superfamily member 4 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:25,883,297...25,909,608
Ensembl chr 7:25,883,251...25,906,892
JBrowse link
G VAMP4 vesicle associated membrane protein 4 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:27,278,200...27,303,499
Ensembl chr 7:27,278,231...27,302,225
JBrowse link
G ZBTB37 zinc finger and BTB domain containing 37 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:25,333,540...25,362,098
Ensembl chr 7:25,349,786...25,361,439
JBrowse link
autoimmune lymphoproliferative syndrome type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2A OMIM
ClinVar
PMID:9536098 PMID:10412980 PMID:11973654 PMID:16199547 PMID:16446975 More... NCBI chr37:10,315,867...10,350,585 JBrowse link
autoimmune lymphoproliferative syndrome type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABI2 abl interactor 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:12,162,815...12,278,505
Ensembl chr37:12,162,392...12,282,395
JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,755,595...10,825,073
Ensembl chr37:10,756,515...10,812,292
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:11,342,292...11,540,199
Ensembl chr37:11,342,384...11,533,024
JBrowse link
G C2CD6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,555,073...10,682,224
Ensembl chr37:10,557,929...10,682,200
JBrowse link
G CARF calcium responsive transcription factor ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:11,786,976...11,884,644
Ensembl chr37:11,787,078...11,848,893
JBrowse link
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,315,867...10,350,585 JBrowse link
G CASP8 caspase 8 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B | ClinVar Annotator: match by term: Caspase-8 deficiency OMIM
ClinVar
PMID:9536098 PMID:11343122 PMID:12353035 PMID:12577056 PMID:15601643 More... NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
JBrowse link
G CD28 CD28 molecule ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:12,503,849...12,536,362
Ensembl chr37:12,503,811...12,532,854
JBrowse link
G CDK15 cyclin dependent kinase 15 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,848,789...10,929,818
Ensembl chr37:10,849,003...10,926,856
JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,268,407...10,307,803
Ensembl chr37:10,268,582...10,345,095
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G CYP20A1 cytochrome P450 family 20 subfamily A member 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:12,085,566...12,141,061
Ensembl chr37:12,086,749...12,140,228
JBrowse link
G FAM117B family with sequence similarity 117 member B ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:11,583,542...11,668,488
Ensembl chr37:11,583,684...11,661,903
JBrowse link
G FLACC1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,404,512...10,438,102
Ensembl chr37:10,404,744...10,430,950
JBrowse link
G FZD7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:11,054,572...11,061,173
Ensembl chr37:11,053,521...11,060,821
JBrowse link
G ICA1L islet cell autoantigen 1 like ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:11,674,970...11,754,931
Ensembl chr37:11,678,125...11,741,997
JBrowse link
G ICOS inducible T cell costimulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:12,663,839...12,735,266
Ensembl chr37:12,670,999...12,733,458
JBrowse link
G MPP4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,711,324...10,751,329
Ensembl chr37:10,711,597...10,748,889
JBrowse link
G NBEAL1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:11,895,127...12,072,613
Ensembl chr37:11,895,219...12,065,380
JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,240,109...10,247,487
Ensembl chr37:10,240,213...10,247,486
JBrowse link
G NOP58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:11,255,562...11,287,325
Ensembl chr37:11,255,589...11,287,279
JBrowse link
G RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:12,279,100...12,346,546 JBrowse link
G STRADB STE20 related adaptor beta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,521,643...10,557,611
Ensembl chr37:10,521,574...10,557,231
JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:11,199,937...11,229,743
Ensembl chr37:11,200,590...11,229,754
JBrowse link
G TMEM237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,691,010...10,709,632
Ensembl chr37:10,691,743...10,709,606
JBrowse link
G TRAK2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,457,985...10,521,432
Ensembl chr37:10,461,104...10,497,820
JBrowse link
G WDR12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:11,762,598...11,787,025
Ensembl chr37:11,762,777...11,786,933
JBrowse link
autoimmune lymphoproliferative syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKCD protein kinase C delta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III OMIM
ClinVar
PMID:9536098 PMID:11976687 PMID:16199547 PMID:17576681 PMID:23319571 More... NCBI chr20:36,723,491...36,751,982
Ensembl chr20:36,723,809...36,752,191
JBrowse link
G RFT1 RFT1 homolog ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III ClinVar PMID:11976687 PMID:23319571 PMID:23430113 PMID:28492532 NCBI chr20:36,781,782...36,822,209 JBrowse link
autoimmune lymphoproliferative syndrome type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 4 | ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder OMIM
ClinVar
PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 More... NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder OMIM
ClinVar
PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3122217 More... NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAS Fas cell surface death receptor ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1a ClinVar PMID:4165068 PMID:4852259 PMID:7539157 PMID:7540117 PMID:8929361 More... NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FASLG Fas ligand ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1b ClinVar PMID:8787672 PMID:25741868 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABI2 abl interactor 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:12,162,815...12,278,505
Ensembl chr37:12,162,392...12,282,395
JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,755,595...10,825,073
Ensembl chr37:10,756,515...10,812,292
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:11,342,292...11,540,199
Ensembl chr37:11,342,384...11,533,024
JBrowse link
G C2CD6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,555,073...10,682,224
Ensembl chr37:10,557,929...10,682,200
JBrowse link
G CARF calcium responsive transcription factor ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:11,786,976...11,884,644
Ensembl chr37:11,787,078...11,848,893
JBrowse link
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,315,867...10,350,585 JBrowse link
G CASP8 caspase 8 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
JBrowse link
G CD28 CD28 molecule ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:12,503,849...12,536,362
Ensembl chr37:12,503,811...12,532,854
JBrowse link
G CDK15 cyclin dependent kinase 15 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,848,789...10,929,818
Ensembl chr37:10,849,003...10,926,856
JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,268,407...10,307,803
Ensembl chr37:10,268,582...10,345,095
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V | ClinVar Annotator: match by term: CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION | ClinVar Annotator: match by term: IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION ClinVar
OMIM
PMID:8817351 PMID:9259273 PMID:9398726 PMID:9536098 PMID:10189842 More... NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G CYP20A1 cytochrome P450 family 20 subfamily A member 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:12,085,566...12,141,061
Ensembl chr37:12,086,749...12,140,228
JBrowse link
G FAM117B family with sequence similarity 117 member B ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:11,583,542...11,668,488
Ensembl chr37:11,583,684...11,661,903
JBrowse link
G FLACC1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,404,512...10,438,102
Ensembl chr37:10,404,744...10,430,950
JBrowse link
G FZD7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:11,054,572...11,061,173
Ensembl chr37:11,053,521...11,060,821
JBrowse link
G ICA1L islet cell autoantigen 1 like ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:11,674,970...11,754,931
Ensembl chr37:11,678,125...11,741,997
JBrowse link
G ICOS inducible T cell costimulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:12,663,839...12,735,266
Ensembl chr37:12,670,999...12,733,458
JBrowse link
G MPP4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,711,324...10,751,329
Ensembl chr37:10,711,597...10,748,889
JBrowse link
G NBEAL1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:11,895,127...12,072,613
Ensembl chr37:11,895,219...12,065,380
JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,240,109...10,247,487
Ensembl chr37:10,240,213...10,247,486
JBrowse link
G NOP58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:11,255,562...11,287,325
Ensembl chr37:11,255,589...11,287,279
JBrowse link
G RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:12,279,100...12,346,546 JBrowse link
G STRADB STE20 related adaptor beta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,521,643...10,557,611
Ensembl chr37:10,521,574...10,557,231
JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:11,199,937...11,229,743
Ensembl chr37:11,200,590...11,229,754
JBrowse link
G TMEM237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,691,010...10,709,632
Ensembl chr37:10,691,743...10,709,606
JBrowse link
G TRAK2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:10,457,985...10,521,432
Ensembl chr37:10,461,104...10,497,820
JBrowse link
G WDR12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr37:11,762,598...11,787,025
Ensembl chr37:11,762,777...11,786,933
JBrowse link
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNFRSF11A TNF receptor superfamily member 11a ISO ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 OMIM
ClinVar
PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 More... NCBI chr 1:14,504,595...14,555,956
Ensembl chr 1:14,503,033...14,556,041
JBrowse link
B-cell acute lymphoblastic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia ClinVar PMID:23623386 PMID:25741868 NCBI chr 6:29,193,192...29,226,935
Ensembl chr 6:29,196,421...29,226,887
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia ClinVar PMID:9536098 PMID:17576681 PMID:23656349 PMID:25741868 PMID:28492532 NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia ClinVar PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 More... NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000
JBrowse link
B-Cell Chronic Lymphocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG2 ATP binding cassette subfamily G member 2 susceptibility ISO DNA:SNPs,haplotype: :rs1481012,rs2231142(human) RGD PMID:21918980 RGD:11080977 NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674
JBrowse link
G ACOXL acyl-CoA oxidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr17:35,269,824...35,617,068
Ensembl chr17:35,269,501...35,617,335
JBrowse link
G AICDA activation induced cytidine deaminase disease_progression ISO RGD PMID:21133730 RGD:11039455 NCBI chr27:37,064,107...37,073,791
Ensembl chr27:37,064,080...37,073,789
JBrowse link
G APOE apolipoprotein E disease_progression ISO RGD PMID:18784741 RGD:11040549 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G ATM ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17968022 NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
JBrowse link
G BCL11A BCL11 transcription factor A ISO DNA:translocation:5' utr: (human) RGD PMID:11719382 RGD:11100004 NCBI chr10:60,589,298...60,691,997
Ensembl chr10:60,589,708...60,689,073
JBrowse link
G BCL2 BCL2 apoptosis regulator severity
no_association
treatment
ISO protein:increased expression:B cell (human)
CTD Direct Evidence: marker/mechanism
DNA:snp:promoter:g.-938C>A (human)
RGD
CTD
PMID:16960146 PMID:17296974 PMID:17959858 PMID:20001236 PMID:21750559 More... RGD:11522735 RGD:11526104 RGD:11526105 RGD:11526110 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G BMF Bcl2 modifying factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr30:7,301,000...7,321,949
Ensembl chr30:7,274,174...7,322,034
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:12068308 PMID:12198537 PMID:12692057 PMID:12960123 PMID:14612909 More... NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
JBrowse link
G BTK Bruton tyrosine kinase treatment ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia RGD
ClinVar
PMID:23045577 PMID:24869598 PMID:25741868 PMID:28492532 RGD:11040699 NCBI chr  X:75,270,952...75,302,663
Ensembl chr  X:75,270,979...75,302,562
JBrowse link
G CBL Cbl proto-oncogene severity ISO mRNA,protein:increased expression:CD5+ B cell:
DNA:hypophosphorylation:CD5+ B cell:
RGD PMID:17804547 RGD:11038803 NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956
JBrowse link
G CCDC50 coiled-coil domain containing 50 ISO RGD PMID:19641524 RGD:9685139 NCBI chr34:23,168,594...23,243,221
Ensembl chr34:23,168,525...23,258,497
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CD40LG CD40 ligand ISO mouse-human chimeric gene in human RGD PMID:20882050 RGD:11352235 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CD5 CD5 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr18:55,216,415...55,235,567
Ensembl chr18:55,217,276...55,235,405
JBrowse link
G CD79B CD79b molecule ISO protein:decreased expression:B lymphocyte, cell surface (human)
mRNA, protein:splice variants, alternative forms:exon 3 (human)
DNA:polymorphism:multiple (human)
RGD PMID:9269755 PMID:10090943 PMID:10552962 RGD:11250403 RGD:151665190 RGD:151665202 NCBI chr 9:11,834,230...11,844,946
Ensembl chr 9:11,842,190...11,844,843
JBrowse link
G CD86 CD86 molecule severity ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25179679 RGD:11354969 NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr 3:54,405,140...54,499,614
Ensembl chr 3:54,405,717...54,500,221
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO protein:increased expression:T cell RGD PMID:15914560 PMID:16094420 RGD:11344923 RGD:11352246 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO RGD PMID:18077792 RGD:11251735 NCBI chr  X:122,838,787...122,850,870
Ensembl chr  X:122,838,645...122,850,884
JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA:decreased expression: B cell RGD PMID:15467427 RGD:9589146 NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit severity ISO DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:19484764 PMID:22739018 RGD:11252203 RGD:11252204 NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
JBrowse link
G FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr25:51,331,876...51,425,754
Ensembl chr25:51,332,409...51,425,449
JBrowse link
G FAS Fas cell surface death receptor disease_progression ISO RGD PMID:12901972 RGD:11049461 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:25741868 PMID:26619011 NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195
JBrowse link
G GNAS GNAS complex locus disease_progression ISO DNA:polymorphism:393T>C (human) RGD PMID:17020971 RGD:1601379 NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 More... NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
JBrowse link
G ICAM1 intercellular adhesion molecule 1 severity ISO RGD PMID:7658704 RGD:11354983 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IFNG interferon gamma susceptibility ISO DNA:polymorphism: :847A>T(human) RGD PMID:19757192 RGD:10755703 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IL10 interleukin 10 disease_progression
no_association
ISO protein:increased expression:serum
DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)
DNA:SNPs: :multiple
RGD PMID:10638947 PMID:19573080 PMID:22945689 RGD:11041895 RGD:11049165 RGD:11049174 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 7:6,000,994...6,006,959
Ensembl chr 7:6,000,907...6,006,870
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:19074885 RGD:11051968 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G IL1B interleukin 1 beta severity ISO DNA:SNP:promoter:-511C>T (human)
protein:decreased expression:plasma:
RGD PMID:10870116 PMID:18271063 RGD:11051967 RGD:11522755 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:decreased expression:plasma: RGD PMID:10870116 RGD:11522755 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma:
CTD
RGD
PMID:10870116 PMID:18006695 RGD:11522755 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G IRF4 interferon regulatory factor 4 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12079517 PMID:12393648 PMID:18758461 RGD:11526160 RGD:11530024 NCBI chr35:760,367...782,314
Ensembl chr35:767,011...781,339
JBrowse link
G ITGA4 integrin subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21093051 NCBI chr36:24,670,464...24,686,719
Ensembl chr36:24,653,408...24,729,057
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr32:28,516,002...28,633,759
Ensembl chr32:28,517,108...28,634,019
JBrowse link
G LOC100683403 NKG2-A/NKG2-B type II integral membrane protein-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr27:35,307,892...35,374,397 JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III no_association ISO DNA:SNP:exon:p.F158V (rs396991) (human) RGD PMID:14563637 RGD:11352260 NCBI chr38:21,054,870...21,060,948 JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 More... NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220
JBrowse link
G MIR143 microRNA mir-143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr 4:59,534,535...59,534,589
Ensembl chr 4:59,534,535...59,534,594
JBrowse link
G MIR145 microRNA mir-145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr 4:59,533,128...59,533,210
Ensembl chr 4:59,533,128...59,533,210
JBrowse link
G MS4A1 membrane spanning 4-domains A1 ISO RGD PMID:19911856 RGD:2316994 NCBI chr21:50,722,142...50,734,934
Ensembl chr21:50,722,041...50,733,704
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16706930 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chr23:7,901,578...7,905,274
Ensembl chr23:7,901,250...7,904,534
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
JBrowse link
G P2RX7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11003599 NCBI chr26:7,928,863...7,983,956
Ensembl chr26:7,940,985...7,983,740
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:B cell (human) RGD PMID:12673718 RGD:11541127 NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778
JBrowse link
G PLCG2 phospholipase C gamma 2 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:24869598 PMID:28492532 NCBI chr 5:70,054,683...70,233,459
Ensembl chr 5:70,059,255...70,207,049
JBrowse link
G PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 1:16,469,793...16,472,910
Ensembl chr 1:16,469,793...16,472,910
JBrowse link
G POLB DNA polymerase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr16:23,306,359...23,335,352
Ensembl chr16:23,306,367...23,335,322
JBrowse link
G PPP2R5C protein phosphatase 2 regulatory subunit B'gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr 8:69,846,311...69,969,409
Ensembl chr 8:69,846,446...69,967,578
JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator ISO protein:increased expression:mononuclear cell (human) RGD PMID:16620968 RGD:11535021 NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112
JBrowse link
G PRKD2 protein kinase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr 1:109,206,400...109,241,529
Ensembl chr 1:109,207,067...109,330,007
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16314473 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:12161469 PMID:12717436 PMID:14644997 PMID:14982869 PMID:15385933 More... NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
JBrowse link
G QPCT glutaminyl-peptide cyclotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr17:29,700,422...29,741,652
Ensembl chr17:29,716,378...29,741,221
JBrowse link
G RBL2 RB transcriptional corepressor like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr 2:62,263,974...62,315,371
Ensembl chr 2:62,265,293...62,315,425
JBrowse link
G SF3B1 splicing factor 3b subunit 1 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:23634996 PMID:25741868 PMID:26619011 NCBI chr37:6,922,150...6,962,474
Ensembl chr37:6,924,047...6,962,896
JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:26619011 NCBI chr18:51,197,924...51,212,397
Ensembl chr18:51,197,939...51,212,354
JBrowse link
G SP140 SP140 nuclear body protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr25:42,459,013...42,527,141
Ensembl chr25:42,459,084...42,527,093
JBrowse link
G TERT telomerase reverse transcriptase disease_progression ISO RGD PMID:17344921 RGD:11038662 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
G TFRC transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242
JBrowse link
G THBD thrombomodulin ISO RGD PMID:21812019 RGD:5685033 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649
JBrowse link
G TNF tumor necrosis factor disease_progression ISO protein:increased expression:bone marrow, blood, lymphocyte RGD PMID:12010662 PMID:22945689 RGD:10449463 RGD:11041895 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr 1:14,504,595...14,555,956
Ensembl chr 1:14,503,033...14,556,041
JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr22:8,226,931...8,257,926
Ensembl chr22:8,227,555...8,258,645
JBrowse link
G TNFSF13 TNF superfamily member 13 ISO protein:increased expression:serum RGD PMID:15488762 RGD:1549466 NCBI chr 5:32,482,723...32,484,790
Ensembl chr 5:32,482,723...32,484,789
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355
JBrowse link
G TOPBP1 DNA topoisomerase II binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr23:30,517,172...30,578,664
Ensembl chr23:30,516,125...30,578,108
JBrowse link
G TP53 tumor protein p53 disease_progression ISO DNA:deletion: :
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
RGD
ClinVar
PMID:253702 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1679237 More... RGD:11075074 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G VDR vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12446453 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
G XPO1 exportin 1 ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:26619011 NCBI chr10:61,541,647...61,588,397
Ensembl chr10:61,542,211...61,585,054
JBrowse link
G XRCC1 X-ray repair cross complementing 1 no_association
severity
ISO DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human)
DNA:SNP: :p.R399Q (rs25487) (human)
RGD PMID:19484764 RGD:11252204 NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816
JBrowse link
B-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG2 ATP binding cassette subfamily G member 2 susceptibility ISO DNA:SNP: :rs6857600(human) RGD PMID:21918980 RGD:11080977 NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674
JBrowse link
G AICDA activation induced cytidine deaminase ISO RGD PMID:17251349 RGD:11039449 NCBI chr27:37,064,107...37,073,791
Ensembl chr27:37,064,080...37,073,789
JBrowse link
G BCL2L2 BCL2 like 2 disease_progression ISO RGD PMID:28094768 RGD:14394511 NCBI chr 8:3,569,335...3,573,922
Ensembl chr 8:3,569,399...3,586,070
JBrowse link
G BCL6 BCL6 transcription repressor ISO diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region RGD PMID:11821949 RGD:1600111 NCBI chr34:20,112,302...20,135,705
Ensembl chr34:20,113,322...20,124,704
JBrowse link
G BRD2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr12:2,534,034...2,546,029
Ensembl chr12:2,534,034...2,546,029
JBrowse link
G BTK Bruton tyrosine kinase treatment ISO human cell in a mouse model RGD PMID:25662332 PMID:28348046 RGD:11040764 RGD:124713554 NCBI chr  X:75,270,952...75,302,663
Ensembl chr  X:75,270,979...75,302,562
JBrowse link
G CBX7 chromobox 7 ISO RGD PMID:17374722 RGD:11352707 NCBI chr10:25,876,022...25,896,284
Ensembl chr10:25,876,016...25,893,501
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CSF2 colony stimulating factor 2 treatment ISO RGD PMID:8469286 RGD:10450244 NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11042651 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
JBrowse link
G EAF2 ELL associated factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20564326 NCBI chr33:25,113,348...25,147,064
Ensembl chr33:25,112,570...25,146,692
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit severity
treatment
ISO RGD
MouseDO
PMID:23982173 PMID:29456795 RGD:10755356 RGD:126781726 NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838
JBrowse link
G IL21R interleukin 21 receptor ISO diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region RGD PMID:11821949 RGD:1600111 NCBI chr 6:19,181,846...19,217,915
Ensembl chr 6:19,182,071...19,217,931
JBrowse link
G JAK3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24837469 NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805
JBrowse link
G KAT5 lysine acetyltransferase 5 severity ISO RGD PMID:17728759 RGD:9588481 NCBI chr18:51,499,615...51,507,434
Ensembl chr18:51,499,938...51,576,699
JBrowse link
G LGALS1 galectin 1 ISO protein:increased expression:primary tumor (rat) RGD PMID:16733672 RGD:2316550 NCBI chr10:26,932,351...26,935,580
Ensembl chr10:26,932,301...26,935,646
JBrowse link
G MIR143 microRNA mir-143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr 4:59,534,535...59,534,589
Ensembl chr 4:59,534,535...59,534,594
JBrowse link
G MIR145 microRNA mir-145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr 4:59,533,128...59,533,210
Ensembl chr 4:59,533,128...59,533,210
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14633661 NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14654083 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24531327 NCBI chr24:36,936,469...37,010,929
Ensembl chr24:36,936,298...37,003,720
JBrowse link
G STAT5A signal transducer and activator of transcription 5A ISO RGD PMID:27018255 RGD:151665817 NCBI chr 9:20,616,041...20,638,523
Ensembl chr 9:20,617,151...20,638,103
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355
JBrowse link
G TNFSF9 TNF superfamily member 9 ISO RGD PMID:10202049 RGD:2317349 NCBI chr20:53,680,882...53,682,521
Ensembl chr20:53,679,880...53,682,706
JBrowse link
B-lymphoblastic leukemia/lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase treatment ISO RGD PMID:21481795 RGD:11038814 NCBI chr 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307
JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444
JBrowse link
G AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) treatment ISO RGD PMID:26116659 RGD:11541128 NCBI chr 2:30,661,333...30,691,283
Ensembl chr 2:30,674,558...30,690,043
JBrowse link
G ATF7IP activating transcription factor 7 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr27:32,082,615...32,194,954
Ensembl chr27:32,086,675...32,177,364
JBrowse link
G BCL2L1 BCL2 like 1 severity ISO RGD PMID:18216295 RGD:11531108 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355
JBrowse link
G BCR BCR activator of RhoGEF and GTPase ISO BCR/ABL fusion RGD PMID:9310467 RGD:41404633 NCBI chr26:27,856,280...27,980,923
Ensembl chr26:27,856,082...27,978,318
JBrowse link
G BRD2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr12:2,534,034...2,546,029
Ensembl chr12:2,534,034...2,546,029
JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24154679 NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145
JBrowse link
G CCND1 cyclin D1 ISO mRNA:increased expression:B cell (mouse) RGD PMID:23169640 RGD:11353783 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A treatment
susceptibility
ISO DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human) RGD PMID:16618932 PMID:21622646 PMID:26104880 RGD:11057958 RGD:11251751 RGD:11251772 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379
JBrowse link
G CRLF2 cytokine receptor like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr  X:780,924...801,961
Ensembl chr  X:780,711...802,836
JBrowse link
G ETV6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15217836 PMID:24413735 PMID:25807284 NCBI chr27:34,351,206...34,587,060
Ensembl chr27:34,343,390...34,587,060
JBrowse link
G F13A1 coagulation factor XIII A chain ISO protein:increased expression:B lymphoblast: RGD PMID:16894461 RGD:11041855 NCBI chr35:6,186,750...6,347,522
Ensembl chr35:6,187,235...6,349,773
JBrowse link
G F3 coagulation factor III, tissue factor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607
JBrowse link
G FH fumarate hydratase ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:32,900,250...32,927,436
Ensembl chr 7:32,901,586...32,927,412
JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 ISO mRNA,protein:increased expression:bone marrow: RGD PMID:8562934 RGD:11049466 NCBI chr25:11,551,372...11,670,891
Ensembl chr25:11,581,206...11,692,284
JBrowse link
G GATA3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chr16:25,391,759...25,407,161
Ensembl chr16:25,391,754...25,407,048
JBrowse link
G IKZF1 IKAROS family zinc finger 1 disease_progression ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:22699455 PMID:24141364 RGD:11075072 NCBI chr18:1,661,851...1,750,987
Ensembl chr18:1,661,690...1,770,768
JBrowse link
G IL5 interleukin 5 ISO RGD PMID:15368290 RGD:7241068 NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
JBrowse link
G IRF4 interferon regulatory factor 4 ISO RGD PMID:20585039 PMID:21818355 PMID:25006123 RGD:11526159 RGD:11530020 RGD:11530030 NCBI chr35:760,367...782,314
Ensembl chr35:767,011...781,339
JBrowse link
G IRF8 interferon regulatory factor 8 ISO RGD PMID:20585039 RGD:11530030 NCBI chr 5:66,789,264...66,812,477
Ensembl chr 5:66,791,350...66,842,179
JBrowse link
G ISX intestine specific homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chr10:28,993,515...29,011,736
Ensembl chr10:28,993,795...29,011,640
JBrowse link
G LOC100683783 double homeobox protein 4C-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:27019113 NCBI chr17:64,277,421...64,282,701 JBrowse link
G MGA MAX dimerization protein MGA ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr30:8,633,122...8,805,822
Ensembl chr30:8,711,091...8,802,324
JBrowse link
G MYB MYB proto-oncogene, transcription factor disease_progression ISO mRNA:splice variants:cds: RGD PMID:21853052 RGD:11532669 NCBI chr 1:27,908,309...27,991,984
Ensembl chr 1:27,908,364...27,991,969
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:22120021 RGD:7207416 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
JBrowse link
G PAX5 paired box 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24013638 PMID:30643249 NCBI chr11:53,194,905...53,390,204
Ensembl chr11:53,201,344...53,390,974
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha treatment ISO RGD PMID:22447844 RGD:11075097 NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:28492532 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15217836 PMID:24413735 NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19796711 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G STAT5A signal transducer and activator of transcription 5A ISO protein:increased phosphorylation:bone marrow (human) RGD PMID:27018255 RGD:151665817 NCBI chr 9:20,616,041...20,638,523
Ensembl chr 9:20,617,151...20,638,103
JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:26080840 PMID:26295973 PMID:28492532 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:28492532 NCBI chr28:14,992,989...15,115,499
Ensembl chr28:14,992,618...15,112,389
JBrowse link
G TCF3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246562 NCBI chr20:57,255,091...57,284,223
Ensembl chr20:57,254,384...57,283,981
JBrowse link
G TDO2 tryptophan 2,3-dioxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chr15:53,406,110...53,424,260
Ensembl chr15:53,405,957...53,423,958
JBrowse link
G TFPI tissue factor pathway inhibitor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chr36:29,457,131...29,546,455
Ensembl chr36:29,459,371...29,511,310
JBrowse link
G TNFSF13 TNF superfamily member 13 ISO RGD PMID:15488762 RGD:1549466 NCBI chr 5:32,482,723...32,484,790
Ensembl chr 5:32,482,723...32,484,789
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355
JBrowse link
G TP53 tumor protein p53 disease_progression ISO DNA:mutations: : RGD PMID:22699455 RGD:11075072 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 More... NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000
JBrowse link
B-lymphoblastic leukemia/lymphoma MLL rearranged term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: Mixed phenotype acute leukemia with t(v;11q23.3) ClinVar PMID:25741868 NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000
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