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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:lymphoproliferative syndrome
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Accession:DOID:0060704 term browser browse the term
Definition:A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection. (DO)
Synonyms:exact_synonym: Combined immunodeficiency due to ITK deficiency;   Duncan disease;   Duncan's syndrome;   EBVS;   Epstein Barr Virus Induced Lymphoproliferative Disease In Males;   Epstein Barr Virus Infection, Familial Fatal;   Familial Fatal Epstein Barr Infection;   IMD5;   INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO;   Immunodeficiency 5;   Immunodeficiency, X Linked Progressive Combined Variable;   LYP;   Lymphoproliferative Disorder;   Purtilo Syndrome;   Purtilo Syndromes;   X Linked Lymphoproliferative Disease;   X-linked lymphoproliferative diseases;   X-linked lymphoproliferative disorder;   X-linked lymphoproliferative disorders;   X-linked lymphoproliferative syndrome;   X-linked lymphoproliferative syndromes;   XLP;   XLPD;   lymphoproliferative disorders
 related_synonym: EBV infection, severe, susceptibility to;   Lymphoproliferative disorders, susceptibility to
 primary_id: MESH:D008232
 xref: OMIM:PS308240;   ORDO:538963



show annotations for term's descendants           Sort by:
lymphoproliferative syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2m beta-2 microglobulin ISO associated with kidney transplantation
associated with Herpesviridae Infections
RGD PMID:9067691 PMID:16282467 RGD:6482705, RGD:6483039 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35534561 NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:deletions RGD PMID:7539157 PMID:15148335 RGD:1600310, RGD:11049166 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO RGD PMID:15718420 RGD:11049481 NCBI chr12:7,623,658...7,699,474
Ensembl chr12:7,623,930...7,699,474
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:22617429 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il17a interleukin 17A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22617429 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Itk IL2-inducible T-cell kinase ISO ClinVar Annotator: match by term: Lymphoproliferative disorder ClinVar NCBI chr10:30,753,339...30,814,685
Ensembl chr10:30,753,344...30,814,685
JBrowse link
G Klrk1 killer cell lectin like receptor K1 disease_progression ISO associated with Postoperative Complications and Epstein-Barr Virus Infections; protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:22105417 RGD:39128180 NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 disease_progression ISO associated with Postoperative Complications and Epstein-Barr Virus Infections; protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:22105417 RGD:39128180 NCBI chr 1:69,614,744...69,622,570 JBrowse link
G Sh2d1a SH2 domain containing 1A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Lymphoproliferative disorder | ClinVar Annotator: match by term: X-linked lymphoproliferative syndrome
CTD
ClinVar
PMID:3658675 PMID:9536098 PMID:9771704 PMID:9811875 PMID:10229804 More... NCBI chr  X:121,373,693...121,401,923 JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:deletion:3' utr:*55_*58delTGTG (human) RGD PMID:16734634 RGD:5684949 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:22859607 RGD:6892715 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:nonsense mutation RGD PMID:10560675 RGD:1601413 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Lymphoproliferative disorder
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr  X:120,890,537...120,938,413
Ensembl chr  X:120,897,907...120,934,700
JBrowse link
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 chr 7:8,917,786...8,959,474
Ensembl chr 7:8,917,786...8,956,475
JBrowse link
G Rnf20 ring finger protein 20 disease_progression ISO RGD PMID:23412334 RGD:9831405 NCBI chr 5:63,976,063...64,001,754
Ensembl chr 5:63,976,045...64,001,754
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 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
acute lymphoblastic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO DNA:snps, haplotype:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:22674224 PMID:22674224 RGD:8657089 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 treatment ISO DNA:SNP:5'UTR:rs717620(human)
DNA:SNPs: :rs717620(human)
RGD PMID:24404132 PMID:25007187 RGD:11080959, RGD:11080979 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 disease_progression ISO mRNA:increased expression:mononuclear cell: RGD PMID:15521915 PMID:12100141 RGD:11081076, RGD:11081143 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11984797 PMID:21898527 NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
JBrowse link
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase susceptibility ISO RGD PMID:17065136 RGD:11100012 NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
JBrowse link
G Aicda activation-induced cytidine deaminase treatment ISO RGD PMID:19759560 RGD:11039451 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684603 PMID:19684604 NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433
JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO OMIM NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcl2 BCL2, apoptosis regulator severity ISO mRNA:increased expression:bone marrow (human) RGD PMID:25982455 RGD:11076595 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743
JBrowse link
G Bcl2l1 Bcl2-like 1 treatment ISO mRNA:increased expression:blood, mononuclear cell (human) RGD PMID:12469194 PMID:19020783 RGD:11353852, RGD:11353866 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO OMIM NCBI chr20:13,471,679...13,596,497
Ensembl chr20:13,471,668...13,597,016
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: therapeutic CTD PMID:22010212 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Cast calpastatin ISO protein:increased expresssion:B cell RGD PMID:11264179 RGD:5509822 NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:bone marrow (human) RGD PMID:22391157 RGD:11352824 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:9292526 RGD:11352271 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:16353080 RGD:11352810 NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
JBrowse link
G Cd79b CD79b molecule ISO protein:decreased expression:bone marrow, mononuclear cell (human) RGD PMID:21487112 RGD:11250414 NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
JBrowse link
G Cd86 CD86 molecule severity ISO protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human) RGD PMID:24283754 RGD:11354967 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24736461 NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A disease_progression
no_association
susceptibility
ISO DNA:deletion: :
DNA:missense mutations:cds:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20453839 PMID:10090949 PMID:9204978 PMID:25675863 PMID:26104880 RGD:11251764, RGD:11252081, RGD:11252082, RGD:11057958 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 disease_progression ISO RGD PMID:25675863 RGD:11252082
G Cebpe CCAAT/enhancer binding protein epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684604 NCBI chr15:28,169,885...28,171,283
Ensembl chr15:28,169,704...28,171,814
JBrowse link
G Cfb complement factor B ISO DNA:missense mutation:p.R32Q b(human) RGD PMID:6958349 RGD:11041155 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Crebbp CREB binding protein disease_progression ISO DNA:mutations:multiple RGD PMID:25917266 RGD:11060149 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Crlf2 cytokine receptor-like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194 NCBI chr14:103,943...108,643
Ensembl chr14:103,939...108,642
JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:9250830 RGD:11039038 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 severity ISO RGD PMID:8562939 RGD:734840 NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010
JBrowse link
G Cyba cytochrome b-245 alpha chain ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:19222940 RGD:11040545 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 susceptibility
no_association
ISO DNA:polymorphism:3"UTR:rs4646903(human)
DNA:polymorphism:cds:2452C>A(p.T461N)(human)
DNA:polymorphism:3'UTR:3801T>C(human)
RGD PMID:22964275 PMID:23725389 PMID:16676594 RGD:11352714, RGD:11352725, RGD:11352728 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
JBrowse link
G Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 susceptibility ISO DNA:polymorphisms: :
DNA:SNP,deletion:splice junction,exon:1934G>A (human)
RGD PMID:11037802 PMID:19593802 RGD:11352820, RGD:11252111 NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11774269 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 disease_progression
susceptibility
ISO DNA:polymorphism: : RGD PMID:19650988 PMID:22215203 RGD:11353796, RGD:11353805 NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
JBrowse link
G Dhfr dihydrofolate reductase disease_progression ISO DNA:polymorphisms, haplotype:promoter:
DNA:polymorphisms: :-317A>G, 829C>T (human)
RGD PMID:19861437 PMID:9226157 PMID:22969948 PMID:12972803 RGD:11039542, RGD:11039543, RGD:11039544, RGD:11039545 NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha treatment ISO DNA:mutations:exon, intron:p.R882(human) RGD PMID:25242092 RGD:11041125 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
JBrowse link
G Dntt DNA nucleotidylexotransferase ISO protein:increased activity:peripheral blood,bone marrow: RGD PMID:7020399 RGD:8694149 NCBI chr 1:239,856,391...239,888,283
Ensembl chr 1:239,856,391...239,888,282
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase disease_progression
no_association
ISO DNA:SNP: :85T>C (human)
DNA:splice-site mutation:intron:IVS14+1G>A (human)
DNA:SNPs: :2194G>A, 1156G>T (human)
RGD PMID:26846104 PMID:26846104 PMID:26846104 RGD:11098453, RGD:11098453, RGD:11098453 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
JBrowse link
G Dux4 double homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776115 NCBI chr16:1,558,430...1,570,045
Ensembl chr16:1,558,766...1,568,565
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32889036 NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32889036 NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
JBrowse link
G Eng endoglin disease_progression ISO RGD PMID:17572488 RGD:11041565 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Ephx1 epoxide hydrolase 1 susceptibility
no_association
ISO DNA:missense mutation, haplotype:exon:p.Y113H (human)
DNA:missense mutation, haplotype:exon:p.H139R (human)
DNA:polymorphisms:exon
DNA:SNPs:exon:rs1051740, rs2234922 (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:21983886 PMID:21983886 PMID:21983886 PMID:19593802 PMID:22930568 More... RGD:11252110, RGD:11252110, RGD:11252111, RGD:11252113, RGD:11252114 NCBI chr13:92,714,315...92,744,124
Ensembl chr13:92,714,315...92,790,235
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:SNPs: :8092C>A, 19007G>A (human)
DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human)
RGD PMID:16723154 PMID:16435384 RGD:11252160, RGD:11340204 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Erg ETS transcription factor ERG ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776115 NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871
JBrowse link
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Acute lymphoid leukemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17255265 NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISS OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:8429686 RGD:11340211 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO protein:increased expression:CD34+ bone marrow cell RGD PMID:10500800 PMID:9711907 RGD:11049148, RGD:11049157 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fga fibrinogen alpha chain ISO protein:increased expression:serum (human) RGD PMID:25317080 RGD:11040558 NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
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 chr12:7,623,658...7,699,474
Ensembl chr12:7,623,930...7,699,474
JBrowse link
G Fpgs folylpolyglutamate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25013492 NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563
JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35115686 NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:blood: RGD PMID:19360458 RGD:11040460 NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:2494952 RGD:11352727 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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 ClinVar
OMIM
PMID:25485910 PMID:25741868 PMID:27108799 PMID:28492532 PMID:32134617 NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO RGD PMID:6589021 RGD:11051848 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO RGD PMID:17317918 PMID:24698347 RGD:11352774, RGD:11352812 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:24191316 RGD:11059506 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Gstm1 glutathione S-transferase mu 1 disease_progression
susceptibility
no_association
ISO RGD PMID:10666194 PMID:15738600 PMID:12827651 PMID:14607752 RGD:10450829, RGD:10755321, RGD:10755409, RGD:10755410 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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 chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Gstt1 glutathione S-transferase theta 1 disease_progression
susceptibility
ISO RGD PMID:10666194 PMID:14607752 RGD:10450829, RGD:10755410 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G H1f2 H1.2 linker histone, cluster member susceptibility ISO DNA:SNP, haplotype:enhancer: (rs807212) (human) RGD PMID:19806355 RGD:10755490 NCBI chr17:41,391,106...41,392,611
Ensembl chr17:41,388,477...41,392,635
JBrowse link
G Hck HCK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17344919 NCBI chr 3:141,571,587...141,614,696
Ensembl chr 3:141,571,587...141,614,693
JBrowse link
G Hdac1 histone deacetylase 1 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
JBrowse link
G Hdac2 histone deacetylase 2 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO RGD PMID:23948281 RGD:9681454 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
JBrowse link
G Hfe homeostatic iron regulator no_association ISO DNA:missense mutation:cds:p.H63D (human)
DNA:missense mutation:cds:p.C282Y (human)
DNA:missense mutation: :p.H63D (human)
RGD PMID:10627122 PMID:10627122 PMID:17107905 RGD:10755557, RGD:10755557, RGD:10755558 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hk1 hexokinase 1 ISO protein:decreased activity:platelet RGD PMID:21921332 RGD:11353881 NCBI chr20:30,230,488...30,332,161
Ensembl chr20:30,230,486...30,332,131
JBrowse link
G Hlf HLF transcription factor, PAR bZIP family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr10:75,154,244...75,211,884
Ensembl chr10:75,154,507...75,211,935
JBrowse link
G Hoxd4 homeo box D4 ISO ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15776434 NCBI chr 3:59,614,464...59,634,042
Ensembl chr 3:59,614,464...59,631,528
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:SNP: :rs2069727(human) RGD PMID:21067287 RGD:10755691 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism
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
DNA:SNPs: (human)
CTD
ClinVar
RGD
PMID:19684604 PMID:25741868 PMID:28492532 PMID:24786325 RGD:151347631 NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr 9:71,042,440...71,191,296
Ensembl chr 9:71,042,440...71,190,867
JBrowse link
G Ikzf3 IKAROS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591
JBrowse link
G Il10 interleukin 10 treatment ISO protein:decreased expression:blood RGD PMID:21653647 PMID:15860861 RGD:11049158, RGD:11049169 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Irf4 interferon regulatory factor 4 ISO DNA:SNP:intron:rs12203592 (human) RGD PMID:19897031 RGD:11526162 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
JBrowse link
G Itpa inosine triphosphatase treatment
no_association
ISO DNA:SNPs:exon:94C>A, 138G>A (human)
DNA:SNP:intron
RGD PMID:22009189 PMID:22009189 RGD:10766474, RGD:10766474 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Kdm2b lysine demethylase 2B ISO mRNA:increased expression:bone marrow (human) RGD PMID:21310926 RGD:9588255 NCBI chr12:33,566,530...33,701,366
Ensembl chr12:33,574,657...33,701,355
JBrowse link
G Kdm3b lysine demethylase 3B ISO protein:increased expression:bone marrow, mononuclear cell (human) RGD PMID:22615488 RGD:9586728 NCBI chr18:26,380,859...26,436,701
Ensembl chr18:26,380,964...26,436,628
JBrowse link
G Kdm6a lysine demethylase 6A severity ISO DNA:mutations:cds:multiple (human) RGD PMID:22377896 RGD:9684944 NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24736461 PMID:25730765 NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
JBrowse link
G Kras KRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:17910045 PMID:25917266 RGD:11060148, RGD:11060149 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lmo2 LIM domain only 2 ISS OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr 3:90,355,234...90,377,970
Ensembl chr 3:90,365,883...90,377,953
JBrowse link
G Mefv MEFV innate immunity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M680I(human) RGD PMID:22942567 RGD:11531121 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
JBrowse link
G Mthfr methylenetetrahydrofolate reductase disease_progression
treatment
ISO DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:677C>T (human)
CTD
RGD
PMID:16706930 PMID:19923983 PMID:21644011 RGD:10449398, RGD:10449407 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase disease_progression
no_association
susceptibility
ISO DNA:SNP::rs10925235(human)
DNA:polymorphism: :2756A>G(human)
DNA:polymorphism: :66A>G(human)
RGD PMID:26605150 PMID:22453148 PMID:15159311 PMID:21618417 RGD:11531136, RGD:11531137, RGD:11531140, RGD:11531141 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:haplotype:cds:
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs3776455(human)
CTD
RGD
PMID:17136115 PMID:17136115 PMID:23940529 RGD:11531133, RGD:11531135 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:25784651 RGD:11532748 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility
no_association
ISO DNA:polymorphisms: :
DNA:polymorphisms,haplotype: :
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:22200898 PMID:25804798 PMID:21888617 PMID:22215203 RGD:11532767, RGD:11532769, RGD:11353805 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to ClinVar
OMIM
PMID:9590180 PMID:11325820 PMID:14559852 PMID:15338273 PMID:16415040 More... NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility
disease_progression
ISO DNA:SNP: :rs3918186(human)
DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human)
RGD PMID:23922896 PMID:20510681 RGD:11533639, RGD:11533646 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Notch3 notch receptor 3 ISS OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO DNA:mutation: :609C>T (human)
DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11774269 PMID:17332311 PMID:18444911 PMID:11774269 RGD:10769347, RGD:10769359 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
JBrowse link
G Nras NRAS proto-oncogene, GTPase disease_progression ISO DNA:missense mutation:cds: RGD PMID:25204082 RGD:11535045 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:24076604 NCBI chr14:76,833,194...76,911,304
Ensembl chr14:76,835,637...76,913,641
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO CTD Direct Evidence: marker/mechanism CTD PMID:23377183 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
JBrowse link
G Nup214 nucleoporin 214 ISO OMIM NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568
JBrowse link
G Pag1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr 2:91,935,378...92,076,937
Ensembl chr 2:92,057,216...92,069,849
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:24013638 PMID:24728327 PMID:25741868 PMID:26214592 PMID:28492532 More... NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M (rs854560), p.Q192R (rs662) (human) RGD PMID:22976839 RGD:11552580 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator severity ISO mRNA:increased expression:blood (human) RGD PMID:27275197 RGD:11535025 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096
JBrowse link
G Prdm14 PR/SET domain 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043588 NCBI chr 5:6,082,163...6,092,712
Ensembl chr 5:6,082,442...6,092,712
JBrowse link
G Pten phosphatase and tensin homolog ISS OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphisms, haplotype:cds:HLA-DQA1*01 (human) RGD PMID:9744491 RGD:11041762 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms, haplotypes:cds:multiple
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human)
RGD PMID:22434102 PMID:9744491 RGD:11041749, RGD:11041762 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E severity ISO mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) RGD PMID:23915977 RGD:10768836 NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
JBrowse link
G Tal1 TAL bHLH transcription factor 1, erythroid differentiation factor ISO OMIM NCBI chr 5:128,586,776...128,600,976
Ensembl chr 5:128,587,701...128,600,976
JBrowse link
G Tal2 TAL bHLH transcription factor 2 ISO OMIM NCBI chr 5:68,411,012...68,417,569
Ensembl chr 5:68,411,012...68,417,569
JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
JBrowse link
G Tcn2 transcobalamin 2 ISO protein:altered activity:plasma: RGD PMID:8754152 RGD:11059889 NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
JBrowse link
G Tert telomerase reverse transcriptase ISO DNA:SNPs:promoter, introns:g.1296486C>T, g.12866516A>C, g.1279790G>A (rs2735940, rs2736100, rs10069690) (human) RGD PMID:23066086 PMID:15621763 RGD:11038654, RGD:11038667 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO mRNA:increased expression:bone marrow, mononuclear cells (human) RGD PMID:12730115 RGD:2317244 NCBI chr15:99,201,556...99,254,054
Ensembl chr15:99,201,489...99,254,049
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tpmt thiopurine S-methyltransferase treatment
no_association
ISO DNA:SNPs:multiple
DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human)
DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human)
DNA:SNPs: :multiple
RGD PMID:17164697 PMID:22009189 PMID:22009189 PMID:24499706 RGD:11038720, RGD:10766474, RGD:10766474, RGD:11038723 NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709
JBrowse link
G Tyms thymidylate synthetase treatment ISO DNA:repeats: : rs347430033(human) RGD PMID:25007187 RGD:11080979 NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
JBrowse link
G Uty ubiquitously transcribed tetratricopeptide repeat containing, Y-linked severity ISO DNA:mutations:cds:multiple (human) RGD PMID:22377896 RGD:9684944 NCBI chr  Y:942,838...1,105,313
Ensembl chr  Y:924,168...1,103,422
JBrowse link
G Vpreb1a V-set pre-B cell surrogate light chain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr11:84,126,969...84,127,846
Ensembl chr11:84,126,969...84,127,846
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility
no_association
ISO DNA:missense mutation, haplotype: :p.R399Q (human)
DNA:missense mutation: :p.R194W (human)
DNA:missense mutation: :p.R399Q (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:21983886 PMID:21983886 PMID:19101034 PMID:19101034 RGD:11252110, RGD:11252192, RGD:11252192 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
JBrowse link
G Crlf2 cytokine receptor-like factor 2 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:19907440 PMID:19965641 PMID:20018760 PMID:22368272 NCBI chr14:103,943...108,643
Ensembl chr14:103,939...108,642
JBrowse link
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 susceptibility ISO DNA:polymorphism:G15631T RGD PMID:19144407 RGD:6480472 NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
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 chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
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 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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 chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: 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 chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:14722525 PMID:16199547 PMID:18060736 PMID:19776401 PMID:24033266 More... NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 More... NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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 chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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:10891452 PMID:11121059 PMID:11133745 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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 chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18688853 NCBI chr17:26,318,121...26,469,034
Ensembl chr17:26,318,569...26,470,365
JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr12:13,620,979...13,758,115
Ensembl chr12:13,621,087...13,758,112
JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 8:114,176,256...114,182,155
Ensembl chr 8:114,176,974...114,178,056
JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
JBrowse link
G Cd163 CD163 molecule disease_progression ISO protein:increased expression:lymph node tumor (human) RGD PMID:23557330 RGD:42721976 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
JBrowse link
G Cd274 CD274 molecule disease_progression ISO RGD PMID:27418641 RGD:41412177 NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
G Cd28 Cd28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
JBrowse link
G Cd68 Cd68 molecule disease_progression ISO protein:increased expression:lymph node tumor (human) RGD PMID:23557330 RGD:42721976 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
JBrowse link
G Cd80 Cd80 molecule IMP RGD PMID:10590132 RGD:6902938 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
JBrowse link
G Cd86 CD86 molecule IMP RGD PMID:10590132 RGD:6902938 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Csnk1a1 casein kinase 1, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr18:55,017,049...55,050,184
Ensembl chr18:55,017,055...55,049,271
JBrowse link
G Csnk2a1 casein kinase 2 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696
JBrowse link
G Csnk2b casein kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:polymorphism:promoter: -670 G>A(human)
protein:increased expression:peripheral blood mononuclear cell:
RGD PMID:17962369 PMID:7513372 RGD:11049147, RGD:11049453 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:23962110 PMID:23797717 RGD:38456007 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr20:42,767,733...42,960,903
Ensembl chr20:42,766,369...42,959,911
JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
JBrowse link
G Gpr183 G protein-coupled receptor 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr15:99,037,764...99,050,550
Ensembl chr15:99,036,367...99,050,559
JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
JBrowse link
G Icos inducible T-cell co-stimulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
JBrowse link
G Ifna1 interferon, alpha 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20370541 NCBI chr 5:103,095,767...103,098,260
Ensembl chr 5:103,097,356...103,097,925
JBrowse link
G Ifng interferon gamma treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:23962110 PMID:8800741 RGD:10755707 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:71,042,440...71,191,296
Ensembl chr 9:71,042,440...71,190,867
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:23962110 PMID:8704212 RGD:11049460 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il5 interleukin 5 disease_progression ISO protein:increased expression:serum RGD PMID:16425276 RGD:11354942 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum (human) RGD PMID:10374863 RGD:11060275 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Irf4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
JBrowse link
G Jak3 Janus kinase 3 ISO DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) RGD PMID:21821710 RGD:11531131 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
JBrowse link
G Notch1 notch receptor 1 ISO DNA:mutations:multiple (human) RGD PMID:16707600 RGD:1580759 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Nras NRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:21586752 RGD:11535055 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330
JBrowse link
G Prkcb protein kinase C, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24090995 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tal2 TAL bHLH transcription factor 2 ISO RGD PMID:1763056 RGD:1599285 NCBI chr 5:68,411,012...68,417,569
Ensembl chr 5:68,411,012...68,417,569
JBrowse link
G Terf2 telomeric repeat binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643074 NCBI chr19:34,976,963...35,005,813
Ensembl chr19:34,977,471...35,005,819
JBrowse link
G Tlx1 T-cell leukemia, homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:1717256 PMID:1683261 RGD:1599439 NCBI chr 1:244,005,057...244,011,318
Ensembl chr 1:244,005,057...244,011,318
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:77,253,881...77,277,078
Ensembl chr 5:77,251,373...77,277,421
JBrowse link
G Tp53 tumor protein p53 ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tp73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:2,161,985...2,209,951
Ensembl chr 9:2,157,900...2,208,937
JBrowse link
agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blnk B-cell linker susceptibility ISO DNA:splice-site mutation
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:10583958 RGD:1600518 NCBI chr 1:239,753,640...239,821,113
Ensembl chr 1:239,753,648...239,821,113
JBrowse link
G Btk Bruton tyrosine kinase susceptibility ISO DNA:insertions, point mutations
ClinVar Annotator: match by term: Agammaglobulinemia
CTD Direct Evidence: therapeutic
ClinVar
CTD
RGD
PMID:10352268 PMID:15142874 PMID:8162018 RGD:1600526 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
JBrowse link
G Cd79a CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:80,493,520...80,497,936
Ensembl chr 1:80,493,581...80,497,935
JBrowse link
G Cd79b CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
JBrowse link
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:14660746 RGD:1599837 NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202
JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:80,493,520...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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 chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
JBrowse link
agammaglobulinemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763
JBrowse link
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
JBrowse link
G Mif macrophage migration inhibitory factor ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628
JBrowse link
G RGD1564162 similar to Homo sapiens fetal lung specific expression unknown ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,721,738...12,725,864
Ensembl chr20:12,723,160...12,726,059
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 chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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 chr20:12,717,475...12,718,785
Ensembl chr20:12,716,779...12,719,520
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 3, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:10525050 PMID:11920841 PMID:16199547 PMID:17576681 More... NCBI chr 1:80,493,520...80,497,936
Ensembl chr 1:80,493,581...80,497,935
JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
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 chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
JBrowse link
G Blnk B-cell linker ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:10583958 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 1:239,753,640...239,821,113
Ensembl chr 1:239,753,648...239,821,113
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 chr 1:239,561,506...239,655,771
Ensembl chr 1:239,561,987...239,682,416
JBrowse link
G Ccnj cyclin J ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:239,659,588...239,677,367 JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:239,414,004...239,425,319
Ensembl chr 1:239,415,203...239,425,272
JBrowse link
G Zfp518a 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 chr 1:239,719,305...239,744,978
Ensembl chr 1:239,719,505...239,744,979
JBrowse link
agammaglobulinemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A ISO ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202
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 6, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:17675462 PMID:17709424 PMID:24033266 More... NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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 7, autosomal recessive OMIM
ClinVar
PMID:18414213 PMID:22351933 PMID:24033266 PMID:25133428 PMID:25741868 More... NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
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 8, autosomal dominant OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21693761 PMID:24216514 PMID:25741868 More... NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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 8b, autosomal recessive ClinVar
OMIM
PMID:28532655 PMID:30063982 NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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:28492532 PMID:30718914 NCBI chr20:4,823,166...4,826,538
Ensembl chr20:4,822,012...4,826,537
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
RGD
PMID:16151469 PMID:19503098 PMID:21345110 PMID:22155737 PMID:22920921 More... RGD:1600902 NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157164 NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
JBrowse link
G Irf4 interferon regulatory factor 4 ISO DNA:translocation RGD PMID:18987657 RGD:11526155 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:12145210 RGD:1549449 NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
JBrowse link
G Npm1 nucleophosmin 1 ISO RGD PMID:15659732 RGD:1600902 NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261581 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10908157 PMID:17261581 NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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:22237435 PMID:28492532 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Ankrd22 ankyrin repeat domain 22 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr 1:231,639,035...231,670,537
Ensembl chr 1:231,639,314...231,670,381
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 Ensembl chr13:73,424,480...73,450,466 JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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 chr13:73,337,235...73,352,115
Ensembl chr13:73,337,257...73,352,114
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr 1:232,014,877...232,016,195
Ensembl chr 1:232,014,880...232,016,195
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 chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
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 chr13:74,359,043...74,838,135
Ensembl chr13:74,359,213...74,838,108
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
DNA:mutations:cds:555C>T,889A>G(human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:1090885 PMID:2149015 PMID:4852259 PMID:7540117 PMID:9028321 More... RGD:12904015, RGD:12903983, RGD:12903956 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:8787672 PMID:9536098 PMID:16627752 PMID:17576681 PMID:17605793 More... NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Gas5 growth arrest specific 5 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr13:73,303,611...73,306,932 JBrowse link
G Ifit2 interferon-induced protein with tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr 1:232,102,570...232,108,638
Ensembl chr 1:232,102,570...232,108,635
JBrowse link
G Ifit3 interferon-induced protein with tetratricopeptide repeats 3 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr 1:232,114,166...232,119,311
Ensembl chr 1:232,114,166...232,119,307
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 chr13:73,363,451...73,408,346
Ensembl chr13:73,363,455...73,408,337
JBrowse link
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
G Lipm lipase, family member M ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr 1:231,618,145...231,637,599
Ensembl chr 1:231,618,284...231,637,410
JBrowse link
G Lipn lipase, family member N ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr 1:231,586,197...231,602,370
Ensembl chr 1:231,584,956...231,603,468
JBrowse link
G Mettl13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr13:74,886,151...74,899,937
Ensembl chr13:74,886,155...74,899,870
JBrowse link
G Mir199a2 microRNA 199a-2 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr13:74,582,954...74,583,063
Ensembl chr13:74,582,954...74,583,063
JBrowse link
G Mir214 microRNA 214 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481
JBrowse link
G Mir3120 microRNA 3120 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr13:74,588,376...74,588,492
Ensembl chr13:74,588,372...74,588,481
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:21376533 RGD:13204846 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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 chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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 chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211
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 chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355
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 chr13:73,174,075...73,245,762
Ensembl chr13:73,173,946...73,238,839
JBrowse link
G RGD1309106 similar to hypothetical protein ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322
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 chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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 chr13:73,424,681...73,524,244
Ensembl chr13:73,451,115...73,524,239
Ensembl chr13:73,451,115...73,524,239
JBrowse link
G Stambpl1 STAM binding protein-like 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr 1:231,699,620...231,745,034
Ensembl chr 1:231,699,995...231,745,032
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 chr13:74,192,808...74,257,896
Ensembl chr13:74,193,573...74,257,896
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 chr13:73,833,478...73,907,249
Ensembl chr13:73,831,252...73,843,169
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 chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
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 chr13:74,919,872...74,942,791
Ensembl chr13:74,919,880...74,933,686
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 chr13:73,271,920...73,303,427
Ensembl chr13:73,280,544...73,337,124
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 chr 9:61,856,379...61,904,029
Ensembl chr 9:61,827,139...61,905,699
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 chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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 chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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 chr 9:60,434,926...60,530,843
Ensembl chr 9:60,434,925...60,530,806
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 chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462
JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B OMIM
ClinVar
PMID:9536098 PMID:11343122 PMID:12353035 PMID:12577056 PMID:15601643 More... NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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 chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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 chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777
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 chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
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 chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 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 chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123
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 chr 9:61,340,291...61,418,531
Ensembl chr 9:61,340,249...61,408,483
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 chr 9:60,315,581...60,343,692
Ensembl chr 9:60,315,582...60,343,648
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 chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781
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 chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134
JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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 chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
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 chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750
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 chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446
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 chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
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 chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209
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 chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084
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 chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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 chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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 chr 9:60,348,531...60,414,036
Ensembl chr 9:60,350,012...60,413,996
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 chr 9:61,475,498...61,502,584
Ensembl chr 9:61,475,517...61,502,469
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 chr16:5,769,226...5,807,214
Ensembl chr16:5,769,215...5,799,352
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 chr16:5,827,063...5,861,120
Ensembl chr16:5,827,088...5,861,120
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 chr 4:178,185,418...178,218,484 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 chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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 chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Faslg Fas ligand ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1b ClinVar PMID:8787672 PMID:25741868 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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 chr 9:61,856,379...61,904,029
Ensembl chr 9:61,827,139...61,905,699
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 chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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 chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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 chr 9:60,434,926...60,530,843
Ensembl chr 9:60,434,925...60,530,806
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 chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462
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 chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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 chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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 chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777
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 chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
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 OMIM
ClinVar
PMID:8817351 PMID:9259273 PMID:9398726 PMID:9536098 PMID:10189842 More... NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 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 chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123
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 chr 9:61,340,291...61,418,531
Ensembl chr 9:61,340,249...61,408,483
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 chr 9:60,315,581...60,343,692
Ensembl chr 9:60,315,582...60,343,648
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 chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781
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 chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134
JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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 chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
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 chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750
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 chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446
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 chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
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 chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209
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 chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084
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 chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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 chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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 chr 9:60,348,531...60,414,036
Ensembl chr 9:60,350,012...60,413,996
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 chr 9:61,475,498...61,502,584
Ensembl chr 9:61,475,517...61,502,469
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 chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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: B Acute Lymphoblastic Leukemia ClinVar PMID:23623386 PMID:25741868 NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia ClinVar PMID:9536098 PMID:17576681 PMID:23656349 PMID:25741868 PMID:28492532 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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 chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
B-Cell Chronic Lymphocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 susceptibility ISO DNA:SNPs,haplotype: :rs1481012,rs2231142(human) RGD PMID:21918980 RGD:11080977 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
JBrowse link
G Acoxl acyl-CoA oxidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 3:115,061,045...115,367,032
Ensembl chr 3:115,061,060...115,364,686
JBrowse link
G Aicda activation-induced cytidine deaminase disease_progression ISO RGD PMID:21133730 RGD:11039455 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
JBrowse link
G Apoe apolipoprotein E disease_progression ISO RGD PMID:18784741 RGD:11040549 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17968022 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Bcl11a BCL11 transcription factor A ISO DNA:translocation:5' utr: (human) RGD PMID:11719382 RGD:11100004 NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment
severity
no_association
ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:B cell (human)
DNA:snp:promoter:g.-938C>A (human)
CTD
RGD
PMID:21750559 PMID:23770605 PMID:17296974 PMID:20001236 PMID:17959858 More... RGD:11522735, RGD:11526110, RGD:11526105, RGD:11526104 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743
JBrowse link
G Bmf Bcl2 modifying factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 3:105,499,534...105,520,159
Ensembl chr 3:105,499,538...105,520,145
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 chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Btk Bruton tyrosine kinase treatment ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar
RGD
PMID:24869598 PMID:25741868 PMID:28492532 PMID:23045577 RGD:11040699 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Cbl Cbl proto-oncogene severity ISO mRNA,protein:increased expression:CD5+ B cell:
DNA:hypophosphorylation:CD5+ B cell:
RGD PMID:17804547 PMID:17804547 RGD:11038803, RGD:11038803 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
JBrowse link
G Ccdc50 coiled-coil domain containing 50 ISO RGD PMID:19641524 RGD:9685139 NCBI chr11:73,332,798...73,395,333
Ensembl chr11:73,334,248...73,395,150
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand ISO mouse-human chimeric gene in human RGD PMID:20882050 RGD:11352235 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd5 Cd5 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 1:207,365,337...207,386,313
Ensembl chr 1:207,365,337...207,386,313
JBrowse link
G Cd79b CD79b molecule ISO protein:decreased expression:B lymphocyte, cell surface (human)
DNA:polymorphism:multiple (human)
mRNA, protein:splice variants, alternative forms:exon 3 (human)
RGD PMID:9269755 PMID:10552962 PMID:10090943 RGD:11250403, RGD:151665202, RGD:151665190 NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
JBrowse link
G Cd86 CD86 molecule severity ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25179679 RGD:11354969 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO protein:increased expression:T cell RGD PMID:16094420 PMID:15914560 RGD:11344923, RGD:11352246 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO RGD PMID:18077792 RGD:11251735
G Dnmt3b DNA methyltransferase 3 beta ISO mRNA:decreased expression: B cell RGD PMID:15467427 RGD:9589146 NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit severity ISO DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:22739018 PMID:19484764 RGD:11252203, RGD:11252204 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr 9:94,053,650...94,162,212
Ensembl chr 9:94,053,726...94,162,212
JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO RGD PMID:12901972 RGD:11049461 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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 chr 2:170,150,552...170,310,698
Ensembl chr 2:170,149,694...170,309,941
JBrowse link
G Fcgr3a Fc gamma receptor 3A no_association ISO DNA:SNP:exon:p.F158V (rs396991) (human) RGD PMID:14563637 RGD:11352260 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Gnas GNAS complex locus disease_progression ISO DNA:polymorphism:393T>C (human) RGD PMID:17020971 RGD:1601379 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
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 chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Icam1 intercellular adhesion molecule 1 severity ISO RGD PMID:7658704 RGD:11354983 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:polymorphism: :847A>T(human) RGD PMID:19757192 RGD:10755703 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il10 interleukin 10 disease_progression
no_association
ISO protein:increased expression:serum
DNA:SNPs: :multiple
DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)
RGD PMID:22945689 PMID:10638947 PMID:19573080 PMID:19573080 RGD:11041895, RGD:11049174, RGD:11049165, RGD:11049165 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:19074885 RGD:11051968 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta severity ISO DNA:SNP:promoter:-511C>T (human)
protein:decreased expression:plasma:
RGD PMID:18271063 PMID:10870116 RGD:11051967, RGD:11522755 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:plasma: RGD PMID:10870116 RGD:11522755 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:plasma:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18006695 PMID:10870116 RGD:11522755 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18758461 PMID:12393648 PMID:12079517 RGD:11526160, RGD:11530024 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
JBrowse link
G Itga4 integrin subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21093051 NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
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 chr 4:178,185,418...178,218,484 JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794
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 chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
JBrowse link
G Mir143 microRNA 143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
JBrowse link
G Mir145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
JBrowse link
G Ms4a1 membrane spanning 4-domains A1 ISO RGD PMID:19911856 RGD:2316994 NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16706930 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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 chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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 chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11003599 NCBI chr12:33,889,709...33,934,168
Ensembl chr12:33,879,745...33,934,619
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:B cell (human) RGD PMID:12673718 RGD:11541127 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
CTD
ClinVar
PMID:24869598 PMID:27542411 PMID:28492532 NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
JBrowse link
G Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr18:59,986,187...59,990,174
Ensembl chr18:59,986,017...59,992,429
JBrowse link
G Polb DNA polymerase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr16:69,379,438...69,402,710
Ensembl chr16:69,379,400...69,404,812
JBrowse link
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr 6:129,461,689...129,598,344
Ensembl chr 6:129,461,648...129,598,346
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO protein:increased expression:mononuclear cell (human) RGD PMID:16620968 RGD:11535021 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096
JBrowse link
G Prkd2 protein kinase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr 1:77,513,625...77,542,386
Ensembl chr 1:77,513,986...77,542,376
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16314473 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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:12717436 PMID:14644997 PMID:15385933 PMID:15710330 PMID:15928039 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Qpct glutaminyl-peptide cyclotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 6:15,964,656...15,996,925
Ensembl chr 6:15,964,657...15,996,711
JBrowse link
G Rbl2 RB transcriptional corepressor like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr19:15,876,852...15,923,632
Ensembl chr19:15,876,853...15,923,572
JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
CTD
ClinVar
PMID:22158541 PMID:23634996 PMID:25741868 PMID:26619011 NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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 chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
JBrowse link
G Sp140 SP140 nuclear body protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542
JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO RGD PMID:17344921 RGD:11038662 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:21812019 RGD:5685033 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Tnf tumor necrosis factor disease_progression ISO protein:increased expression:bone marrow, blood, lymphocyte RGD PMID:12010662 PMID:22945689 RGD:10449463, RGD:11041895 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b susceptibility ISO DNA:missense mutation:cds:p.E228A (c.683A>C) (human)
DNA:SNP: :1322A>G (human)
RGD PMID:16217763 PMID:15531454 RGD:11038717, RGD:11038718 NCBI chr15:44,839,818...44,867,582
Ensembl chr15:44,840,386...44,867,467
JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr15:53,674,990...53,705,171
Ensembl chr15:53,673,877...53,705,445
JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO protein:increased expression:serum RGD PMID:15488762 RGD:1549466 NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:77,253,881...77,277,078
Ensembl chr 5:77,251,373...77,277,421
JBrowse link
G Topbp1 DNA topoisomerase II binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1679237 More... RGD:11075074 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Vdr vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12446453 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:26619011 NCBI chr14:97,233,263...97,275,536
Ensembl chr14:97,233,270...97,275,498
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 severity
no_association
ISO DNA:SNP: :p.R399Q (rs25487) (human)
DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human)
RGD PMID:19484764 PMID:19484764 RGD:11252204, RGD:11252204 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
JBrowse link
B-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 susceptibility ISO DNA:SNP: :rs6857600(human) RGD PMID:21918980 RGD:11080977 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
JBrowse link
G Aicda activation-induced cytidine deaminase ISO RGD PMID:17251349 RGD:11039449 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
JBrowse link
G Bcl2l2 Bcl2-like 2 disease_progression ISO RGD PMID:28094768 RGD:14394511 NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
JBrowse link
G Bcl6 BCL6, transcription repressor ISO diffuse large B-cell lymphoma RGD PMID:11821949 RGD:1600111 NCBI chr11:76,854,090...76,877,389
Ensembl chr11:76,854,090...76,877,389
JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
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:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Cbx7 chromobox 7 ISO RGD PMID:17374722 RGD:11352707 NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO RGD PMID:8469286 RGD:10450244 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11042651 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Eaf2 ELL associated factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20564326 NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit severity
treatment
ISO
ISS
MouseDO
RGD
PMID:23982173 PMID:29456795 RGD:10755356, RGD:126781726 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G Il21r interleukin 21 receptor ISO diffuse large B-cell lymphoma RGD PMID:11821949 RGD:1600111 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24837469 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
JBrowse link
G Kat5 lysine acetyltransferase 5 severity ISO RGD PMID:17728759 RGD:9588481 NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
JBrowse link
G Lgals1 galectin 1 IEP protein:increased expression:primary tumor (rat) RGD PMID:16733672 RGD:2316550 NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345
JBrowse link
G Mir143 microRNA 143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
JBrowse link
G Mir145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14633661 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14654083 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24531327 NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504
JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO RGD PMID:27018255 RGD:151665817 NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:77,253,881...77,277,078
Ensembl chr 5:77,251,373...77,277,421
JBrowse link
G Tnfsf9 TNF superfamily member 9 ISO RGD PMID:10202049 RGD:2317349 NCBI chr 9:1,944,017...1,946,351
Ensembl chr 9:1,944,017...1,946,345
JBrowse link
B-lymphoblastic leukemia/lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase treatment ISO RGD PMID:21481795 RGD:11038814 NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 treatment ISO RGD PMID:26116659 RGD:11541128 NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
JBrowse link
G Atf7ip activating transcription factor 7 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr 4:169,385,872...169,471,652
Ensembl chr 4:169,385,872...169,471,650
JBrowse link
G Bcl2l1 Bcl2-like 1 severity ISO RGD PMID:18216295 RGD:11531108 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO BCR/ABL fusion RGD PMID:9310467 RGD:41404633 NCBI chr20:13,471,679...13,596,497
Ensembl chr20:13,471,668...13,597,016
JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24154679 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:B cell (mouse) RGD PMID:23169640 RGD:11353783 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment
susceptibility
ISO DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human) RGD PMID:16618932 PMID:26104880 PMID:21622646 RGD:11251751, RGD:11057958, RGD:11251772 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 treatment ISO RGD PMID:21622646 PMID:16618932 RGD:11251772, RGD:11251751
G Crlf2 cytokine receptor-like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr14:103,943...108,643
Ensembl chr14:103,939...108,642
JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 treatment ISO DNA:polymorphisms: : RGD PMID:21225912 RGD:11353807 NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
JBrowse link
G Dux4 double homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27019113 NCBI chr16:1,558,430...1,570,045
Ensembl chr16:1,558,766...1,568,565
JBrowse link
G Etv6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15217836 PMID:24413735 PMID:25807284 NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO protein:increased expression:B lymphoblast: RGD PMID:16894461 RGD:11041855 NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
JBrowse link
G F3 coagulation factor III, tissue factor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:28492532 NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO mRNA,protein:increased expression:bone marrow: RGD PMID:8562934 RGD:11049466 NCBI chr12:7,623,658...7,699,474
Ensembl chr12:7,623,930...7,699,474
JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chr16:67,430,684...67,442,459
Ensembl chr16:67,430,578...67,442,730
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 disease_progression ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:24141364 PMID:22699455 RGD:11075072 NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
JBrowse link
G Il5 interleukin 5 ISO RGD PMID:15368290 RGD:7241068 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:25006123 PMID:20585039 PMID:21818355 RGD:11526159, RGD:11530030, RGD:11530020 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
JBrowse link
G Irf8 interferon regulatory factor 8 ISO RGD PMID:20585039 RGD:11530030 NCBI chr19:48,790,483...48,812,363
Ensembl chr19:48,790,588...48,811,829
JBrowse link
G Isx intestine-specific homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chr19:13,218,552...13,239,754
Ensembl chr19:13,218,552...13,239,760
JBrowse link
G Mga MAX dimerization protein MGA ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043
JBrowse link
G Myb MYB proto-oncogene, transcription factor disease_progression ISO mRNA:splice variants:cds: RGD PMID:21853052 RGD:11532669 NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:22120021 RGD:7207416 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Pax5 paired box 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24013638 PMID:30643249 NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha treatment ISO RGD PMID:22447844 RGD:11075097 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:28492532 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Runx1 RUNX family transcription factor 1 onset ISO DNA:amplification
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15217836 PMID:24413735 PMID:21822204 RGD:6482828 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19796711 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO protein:increased phosphorylation:bone marrow (human) RGD PMID:27018255 RGD:151665817 NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:26080840 PMID:26295973 PMID:28492532 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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 chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246562 NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
JBrowse link
G Tdo2 tryptophan 2,3-dioxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chr 2:167,269,581...167,287,511
Ensembl chr 2:167,269,579...167,287,511
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO RGD PMID:15488762 RGD:1549466 NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:77,253,881...77,277,078
Ensembl chr 5:77,251,373...77,277,421
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO DNA:mutations: : RGD PMID:22699455 RGD:11075072 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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 Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 ClinVar PMID:22658618 PMID:25741868 PMID:28492532 NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
JBrowse link
B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868 PMID:28492532 PMID:30093976 NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:10678659 PMID:12734318 PMID:12838562 PMID:15964893 PMID:18716613 More... NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
JBrowse link
B-lymphoblastic leukemia/lymphoma with hyperdiploidy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
JBrowse link
B-lymphoblastic leukemia/lymphoma with hypodiploidy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: B-lymphoblastic leukemia/lymphoma with hypodiploidy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
Blau syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility ISO ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome
CTD Direct Evidence: marker/mechanism
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snp:cds:p.E383K (human)
DNA:snp:cds:p.E383G (human)
DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
OMIM
ClinVar
CTD
RGD
PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 More... RGD:8547518, RGD:8547515, RGD:8158051, RGD:8158040 NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
JBrowse link
Burkitt lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4galt alpha 1,4-galactosyltransferase (P blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:11482875 NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Bbc3 Bcl-2 binding component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18573879 NCBI chr 1:77,013,281...77,022,509
Ensembl chr 1:77,014,543...77,022,509
JBrowse link
G Bcl2l2 Bcl2-like 2 ISO mRNA:increased expression:lymph node RGD PMID:28094768 RGD:14394511 NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Burkitt lymphoma ClinVar PMID:17262179 PMID:26467025 PMID:28492532 PMID:31911673 NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
JBrowse link
G Btk Bruton tyrosine kinase ameliorates
treatment
ISO Human cell line in a mouse model
mRNA:increased expression:multiple (human)
RGD PMID:28474336 PMID:30546948 RGD:124713565, RGD:124715474 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Calr calreticulin treatment ISO human cells and recombinant protein in a mouse model
human cell line and recombinant protein in a mouse model
RGD PMID:9858521 PMID:10961892 RGD:150521687, RGD:150521702 NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
JBrowse link
G Cct6b chaperonin containing TCP1 subunit 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr10:67,652,461...67,701,385
Ensembl chr10:67,652,546...67,701,284
JBrowse link
G Cd40 CD40 molecule treatment ISO human cell line in a mouse model RGD PMID:9192773 RGD:11520790 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd79b CD79b molecule treatment ISO human cells in mouse model RGD PMID:17374736 RGD:151665154 NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
JBrowse link
G Gna13 G protein subunit alpha 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr10:94,337,939...94,370,774
Ensembl chr10:94,337,725...94,370,774
JBrowse link
G Id3 inhibitor of DNA binding 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143595 PMID:23143597 NCBI chr 5:148,372,784...148,374,353
Ensembl chr 5:148,372,762...148,374,349
JBrowse link
G Mir21 microRNA 21 treatment ISO RGD PMID:27991481 RGD:41404643 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mir23b microRNA 23b treatment ISO RGD PMID:27991481 RGD:41404643 NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763
JBrowse link
G Mllt11 MLLT11, transcription factor 7 cofactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31587870 NCBI chr 2:182,795,790...182,804,960
Ensembl chr 2:182,795,790...182,797,199
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Burkitt lymphoma
DNA:mutations:exons:multiple (human)
ClinVar
OMIM
RGD
PMID:8220424 PMID:25157968 PMID:27993330 PMID:8220424 PMID:8397370 RGD:1601453, RGD:10059619 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Pbx1 PBX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982 PMID:17244677 NCBI chr13:80,278,766...80,588,563
Ensembl chr13:80,278,770...80,588,594
JBrowse link
G Pc pyruvate carboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G Sall3 spalt-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr18:74,406,058...74,425,754
Ensembl chr18:74,407,560...74,426,789
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982 PMID:17244677 NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
JBrowse link
Castleman disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15182131 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
central nervous system lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ameliorates ISO RGD PMID:28552327 RGD:124715478 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Cd79b CD79b molecule treatment ISO RGD PMID:28619981 RGD:151665208 NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:-1082G>A (human) RGD PMID:22628023 RGD:7364831 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor treatment ISO RGD PMID:28619981 RGD:151665208 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
JBrowse link
childhood acute lymphocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctcf CCCTC-binding factor disease_progression ISO mRNA, protein:increased expression:bone marrow, blood (human) RGD PMID:24393203 RGD:151356757 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
JBrowse link
chronic lymphocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak3 adenylate kinase 3 ISO protein:increased expression:peripheral blood mononuclear cell RGD PMID:27078856 RGD:13842476 NCBI chr 1:226,737,472...226,764,647
Ensembl chr 1:226,739,318...226,764,625
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:12068308 PMID:12198537 PMID:12960123 PMID:14612909 PMID:14679157 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:9450802 RGD:11522717 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd79b CD79b molecule ISO protein:decreased expression:peripheral blood cells (human)
mRNA, protein:splice variants, alternative forms:exon 3 (human)
protein:decreased expression:blood, B cell (human)
protein:decreased expression:blood cells (human)
RGD PMID:10516749 PMID:10090943 PMID:10329919 PMID:10753858 RGD:151665125, RGD:151665190, RGD:11531139, RGD:151665152 NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
JBrowse link
G Cd86 CD86 molecule ISO DNA:hypermethylation (human) RGD PMID:23154584 RGD:11354975 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:25741868 PMID:26619011 NCBI chr 2:170,150,552...170,310,698
Ensembl chr 2:170,149,694...170,309,941
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:21911837 RGD:11354912 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression ISO DNA:SNPs:3' utr:multiple
DNA:SNP: :rs872071 (human)
DNA:missense mutation:exon:p.L116R (human)
RGD PMID:23897826 PMID:20123861 PMID:20731705 PMID:23926303 PMID:20090783 More... RGD:11526156, RGD:11530031, RGD:11530029, RGD:11530026, RGD:11530021, RGD:11526158 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chr 4:178,185,418...178,218,484