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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:leukocyte disease
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Accession:DOID:9500 term browser browse the term
Definition:Disordered formation of various types of leukocytes or an abnormal accumulation or deficiency of these cells.
Synonyms:exact_synonym: Leukocyte Disorder;   Leukocyte Disorders
 primary_id: MESH:D007960;   RDO:0005500
 xref: ICD10CM:D72.9;   ICD9CM:288
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
leukocyte disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2880869 PMID:9653089 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
G Plg plasminogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:30213540 NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
JBrowse link
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb caseinolytic mitochondrial matrix peptidase chaperone subunit B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia OMIM
ClinVar
PMID:25595726 PMID:25597510 PMID:25597511 PMID:25650066 PMID:25741868 PMID:26916670 PMID:27290639 PMID:28492532 PMID:28554332 PMID:28687938 PMID:32313153 NCBI chr 1:166,739,372...166,866,095
Ensembl chr 1:166,739,532...166,866,107
JBrowse link
agranulocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8120554 PMID:11732872 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:15999287 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Il1b interleukin 1 beta treatment ISO RGD PMID:1331350 RGD:10450883 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 ISO associated with schizophrenia;DNA:SNPs:exons, intron:multiple
CTD Direct Evidence: marker/mechanism
CTD PMID:14617031, PMID:14617031 RGD:11073696 NCBI chr17:32,131,847...32,158,559
Ensembl chr17:32,132,347...32,158,538
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:SNP: :6672G>C (human) RGD PMID:20868635 RGD:11041752 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:609889
OMIM
ClinVar
PMID:9630231 PMID:11121059 PMID:11133745 PMID:11313270 PMID:16276422 PMID:17890453 PMID:18592361 PMID:19246248 PMID:24144642 PMID:24290284 PMID:25741868 PMID:25976673 PMID:28492532 PMID:28769923 PMID:30307608 NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
JBrowse link
Autoinflammation, Immunde Dysregulation, and Eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: ATOPIC DERMATITIS, ENTERITIS, COLITIS, AND EOSINOPHILIA OMIM
ClinVar
PMID:20167706 PMID:25356970 PMID:28111307 PMID:32750333 NCBI chr 5:119,982,503...120,091,452
Ensembl chr 5:119,982,943...120,083,904
JBrowse link
Autosomal Recessive Chronic Granulomatous Disease 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cybc1 cytochrome b-245 chaperone 1 ISO ClinVar Annotator: match by term: Autosomal recessive chronic granulomatous disease 5 OMIM
ClinVar
PMID:28600779 PMID:30312704 PMID:30361506 NCBI chr10:110,424,973...110,431,792
Ensembl chr10:110,424,974...110,431,792
JBrowse link
autosomal recessive chronic granulomatous disease cytochrome b-negative term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar Annotator: match by OMIM:233690
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1415254 PMID:1763037 PMID:2243141 PMID:3368442 PMID:3571224 PMID:4384563 PMID:9445163 PMID:10440830 PMID:10759707 PMID:10910929 PMID:10914676 PMID:12073015 PMID:18422995 PMID:19292887 PMID:19388116 PMID:19949658 PMID:20167518 PMID:20674832 PMID:22336310 PMID:22876374 PMID:22924696 PMID:25741868 PMID:27537055 PMID:27980538 PMID:28492532 PMID:29454792 PMID:30470980 PMID:30709874 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:55,258,910...55,268,933
Ensembl chr19:55,258,905...55,268,951
JBrowse link
autosomal recessive chronic granulomatous disease cytochrome b-positive type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncf1 neutrophil cytosolic factor 1 ISO ClinVar Annotator: match by term: p47-PHOX DEFICIENCY
ClinVar Annotator: match by term: p47-PHOX, DEFICIENCY OF
ClinVar Annotator: match by OMIM:233700
OMIM
ClinVar
PMID:742630 PMID:7678602 PMID:11133775 PMID:11433300 PMID:16972229 PMID:24446915 PMID:25741868 NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
JBrowse link
autosomal recessive chronic granulomatous disease cytochrome b-positive type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncf2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
ClinVar Annotator: match by term: p67-PHOX, DEFICIENCY OF
ClinVar Annotator: match by OMIM:233710
OMIM
ClinVar
PMID:7795241 PMID:8781442 PMID:10498624 PMID:10598813 PMID:11499676 PMID:16937026 PMID:18625437 PMID:19624736 PMID:20167518 PMID:21900546 PMID:23821607 PMID:24033266 PMID:24931457 PMID:25741868 PMID:25937994 PMID:28492532 NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
JBrowse link
autosomal recessive chronic granulomatous disease cytochrome b-positive type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncf1 neutrophil cytosolic factor 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III ClinVar PMID:24446915 PMID:25741868 NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
ClinVar Annotator: match by OMIM:613960
OMIM
ClinVar
PMID:19692703 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29454792 PMID:29969437 NCBI chr 7:119,481,711...119,499,426
Ensembl chr 7:119,482,272...119,499,425
JBrowse link
B-Cell Chronic Lymphocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 susceptibility ISO DNA:SNPs,haplotype: :rs1481012,rs2231142(human) RGD PMID:21918980 RGD:11080977 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Acoxl acyl-CoA oxidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 3:120,414,311...120,724,809
Ensembl chr 3:120,414,291...120,726,336
JBrowse link
G Aicda activation-induced cytidine deaminase disease_progression ISO RGD PMID:21133730 RGD:11039455 NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Apoe apolipoprotein E disease_progression ISO RGD PMID:18784741 RGD:11040549 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17968022 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO DNA:translocation:5' utr: (human) RGD PMID:11719382 RGD:11100004 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment
severity
no_association
ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:B cell (human)
DNA:snp:promoter:g.-938C>A (human)
CTD PMID:21750559 PMID:23770605, PMID:17296974, PMID:20001236, PMID:17959858, PMID:16960146 RGD:11522735, RGD:11526110, RGD:11526105, RGD:11526104 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bmf Bcl2 modifying factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 3:110,303,515...110,324,125
Ensembl chr 3:110,306,067...110,324,084
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar PMID:12068308 PMID:14612909 PMID:14679157 PMID:14688025 PMID:17096326 PMID:17119447 PMID:17311103 PMID:18368129 PMID:18794803 PMID:19383316 PMID:19537845 PMID:19913317 PMID:20350999 PMID:20619739 PMID:21129611 PMID:22310681 PMID:23352452 PMID:24033266 PMID:25157968 PMID:26619011 PMID:28492532 PMID:29595366 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Btk Bruton tyrosine kinase treatment ISO RGD PMID:23045577 RGD:11040699 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
JBrowse link
G Cbl Cbl proto-oncogene severity ISO mRNA,protein:increased expression:CD5+ B cell:
DNA:hypophosphorylation:CD5+ B cell:
RGD PMID:17804547, PMID:17804547 RGD:11038803, RGD:11038803 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Ccdc50 coiled-coil domain containing 50 ISO RGD PMID:19641524 RGD:9685139 NCBI chr11:76,742,179...76,804,695
Ensembl chr11:76,747,865...76,804,510
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO mouse-human chimeric gene in human RGD PMID:20882050 RGD:11352235 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd5 Cd5 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 1:226,770,912...226,791,861
Ensembl chr 1:226,770,744...226,791,879
JBrowse link
G Cd79b CD79b molecule ISO protein:decreased expression:B lymphocyte, cell surface (human) RGD PMID:9269755 RGD:11250403 NCBI chr10:94,497,445...94,500,591
Ensembl chr10:94,497,448...94,500,591
JBrowse link
G Cd86 CD86 molecule severity ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25179679 RGD:11354969 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr 1:143,171,457...143,278,485
Ensembl chr 1:143,171,264...143,278,485
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO protein:increased expression:T cell RGD PMID:16094420, PMID:15914560 RGD:11344923, RGD:11352246 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO RGD PMID:18077792 RGD:11251735 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO mRNA:decreased expression: B cell RGD PMID:15467427 RGD:9589146 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit severity ISO DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:22739018, PMID:19484764 RGD:11252203, RGD:11252204 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr 9:100,660,366...100,767,940
Ensembl chr 9:100,660,394...100,767,940
JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO RGD PMID:12901972 RGD:11049461 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:25741868 PMID:26619011 NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa no_association ISO DNA:SNP:exon:p.F158V (rs396991) (human) RGD PMID:14563637 RGD:11352260 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Gnas GNAS complex locus disease_progression ISO DNA:polymorphism:393T>C (human) RGD PMID:17020971 RGD:1601379 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29493581 PMID:31775759 PMID:168335863 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Icam1 intercellular adhesion molecule 1 severity ISO RGD PMID:7658704 RGD:11354983 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:polymorphism: :847A>T(human) RGD PMID:19757192 RGD:10755703 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il10 interleukin 10 disease_progression
no_association
ISO protein:increased expression:serum
DNA:SNPs: :multiple
DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)
RGD PMID:22945689, PMID:10638947, PMID:19573080, PMID:19573080 RGD:11041895, RGD:11049174, RGD:11049165, RGD:11049165 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr13:47,663,592...47,677,869
Ensembl chr13:47,664,080...47,670,407
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:19074885 RGD:11051968 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta severity ISO DNA:SNP:promoter:-511C>T (human)
protein:decreased expression:plasma:
RGD PMID:18271063, PMID:10870116 RGD:11051967, RGD:11522755 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:plasma: RGD PMID:10870116 RGD:11522755 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:plasma:
CTD Direct Evidence: marker/mechanism
CTD PMID:18006695, PMID:10870116 RGD:11522755 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461, PMID:12393648, PMID:12079517 RGD:11526160, RGD:11530024 NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
JBrowse link
G Itga4 integrin subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21093051 NCBI chr 3:66,178,745...66,265,547
Ensembl chr 3:66,193,059...66,263,960
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:18316791 PMID:18794081 PMID:19075190 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:22407852 PMID:22722830 PMID:23325582 PMID:25157968 PMID:26619011 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 2:236,232,115...236,345,061
Ensembl chr 2:236,233,239...236,345,056
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29493581 PMID:31775759 PMID:168335863 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Mir143 microRNA 143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:56,971,273...56,971,377
Ensembl chr18:56,971,273...56,971,377
JBrowse link
G Mir145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:56,969,907...56,969,994
Ensembl chr18:56,969,907...56,969,994
JBrowse link
G Ms4a1 membrane spanning 4-domains A1 ISO RGD PMID:19911856 RGD:2316994 NCBI chr 1:227,429,241...227,441,492
Ensembl chr 1:227,429,596...227,441,442
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16706930 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11003599 NCBI chr12:39,353,613...39,396,042
Ensembl chr12:39,353,613...39,396,042
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:B cell (human) RGD PMID:12673718 RGD:11541127 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27542411 NCBI chr19:50,039,410...50,173,543
Ensembl chr19:50,045,020...50,173,220
JBrowse link
G Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr18:62,159,128...62,179,635
Ensembl chr18:62,174,670...62,181,102
JBrowse link
G Polb DNA polymerase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr16:74,237,001...74,260,272
Ensembl chr16:74,237,001...74,260,271
JBrowse link
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr 6:134,804,128...134,941,912
Ensembl chr 6:134,804,141...134,939,358
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO protein:increased expression:mononuclear cell (human) RGD PMID:16620968 RGD:11535021 NCBI chr  X:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878
JBrowse link
G Prkd2 protein kinase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr 1:78,767,911...78,796,223
Ensembl chr 1:78,767,911...78,796,231
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16314473 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Qpct glutaminyl-peptide cyclotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 6:1,657,110...1,689,575
Ensembl chr 6:1,657,331...1,689,559
JBrowse link
G Rbl2 RB transcriptional corepressor like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr19:17,300,088...17,346,865
Ensembl chr19:17,300,089...17,346,808
JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158541 NCBI chr 9:61,594,620...61,634,510
Ensembl chr 9:61,594,620...61,634,510
JBrowse link
G Sp140 SP140 nuclear body protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr 9:92,618,088...92,665,431
Ensembl chr 9:92,618,352...92,665,430
JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO RGD PMID:17344921 RGD:11038662 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:21812019 RGD:5685033 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tnf tumor necrosis factor disease_progression ISO protein:increased expression:bone marrow, blood, lymphocyte RGD PMID:12010662, PMID:22945689 RGD:10449463, RGD:11041895 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b susceptibility ISO DNA:missense mutation:cds:p.E228A (c.683A>C) (human)
DNA:SNP: :1322A>G (human)
RGD PMID:16217763, PMID:15531454 RGD:11038717, RGD:11038718 NCBI chr15:51,433,853...51,464,215 JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO protein:increased expression:serum RGD PMID:15488762 RGD:1549466 NCBI chr10:56,286,964...56,290,680
Ensembl chr10:56,286,887...56,289,952
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
G Topbp1 DNA topoisomerase II binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 8:111,790,655...111,835,224
Ensembl chr 8:111,790,678...111,827,151
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO DNA:deletion: :
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1679237 PMID:1683921 PMID:1978757 PMID:2046748 PMID:2531845 PMID:2554494 PMID:2826609 PMID:7651740 PMID:7732013 PMID:7791795 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8164043 PMID:8242631 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8718514 PMID:8825920 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9825943 PMID:9839505 PMID:10064694 PMID:10411893 PMID:10519380 PMID:10761705 PMID:10797439 PMID:10864200 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12007217 PMID:12406399 PMID:12672316 PMID:12700230 PMID:12726864 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:15004724 PMID:15017592 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:16337994 PMID:16401470 PMID:16439677 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:18511570 PMID:18685109 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20308654 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20693561 PMID:20805372 PMID:20878954 PMID:21056685 PMID:21059199 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22713868 PMID:22811390 PMID:22844452 PMID:22866089 PMID:22899716 PMID:22915647 PMID:22919068 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23263379 PMID:23265383 PMID:23538418 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24744791 PMID:24766216 PMID:24810334 PMID:25157968 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26425688 PMID:26467025 PMID:26534844 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27179933 PMID:27276561 PMID:27276934 PMID:27374712 PMID:27463065 PMID:27493922 PMID:27501770 PMID:27523101 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27873457 PMID:27895058 PMID:27959731 PMID:28152038 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28476805 PMID:28492532 PMID:28724667 PMID:28861920 PMID:29025599 PMID:29324801 PMID:29416011 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30816478 PMID:31300551 PMID:31775759 PMID:32000721 PMID:32295079, PMID:10867151 RGD:11075074 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Vdr vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12446453 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr14:108,007,421...108,049,088
Ensembl chr14:108,007,724...108,049,660
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 severity
no_association
ISO DNA:SNP: :p.R399Q (rs25487) (human)
DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human)
RGD PMID:19484764, PMID:19484764 RGD:11252204, RGD:11252204 NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
JBrowse link
B-Cell CLL/Lymphoma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2, apoptosis regulator ISO OMIM NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Card11 caspase recruitment domain family, member 11 ISO ClinVar Annotator: match by term: B-cell expansion with NFKB and T-cell anergy OMIM
ClinVar
PMID:18323416 PMID:23027925 PMID:23129749 PMID:25352053 PMID:25741868 PMID:25930198 PMID:26861442 PMID:28492532 PMID:28824638 PMID:29472930 NCBI chr12:15,700,600...15,844,512
Ensembl chr12:15,700,825...15,844,512
JBrowse link
B-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 susceptibility ISO DNA:SNP: :rs6857600(human) RGD PMID:21918980 RGD:11080977 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Aicda activation-induced cytidine deaminase ISO RGD PMID:17251349 RGD:11039449 NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Bcl2l2 Bcl2-like 2 disease_progression ISO RGD PMID:28094768 RGD:14394511 NCBI chr15:33,543,774...33,549,165
Ensembl chr15:33,544,312...33,549,164
JBrowse link
G Bcl6 BCL6, transcription repressor ISO diffuse large B-cell lymphoma RGD PMID:11821949 RGD:1600111 NCBI chr11:80,255,790...80,279,075
Ensembl chr11:80,255,790...80,279,075
JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426
Ensembl chr20:3,910,555...3,917,426
JBrowse link
G Btk Bruton tyrosine kinase treatment ISO RGD PMID:25662332 RGD:11040764 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
JBrowse link
G Cbx7 chromobox 7 ISO RGD PMID:17374722 RGD:11352707 NCBI chr 7:121,136,067...121,153,503
Ensembl chr 7:121,136,058...121,153,383
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO RGD PMID:8469286 RGD:10450244 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11042651 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Eaf2 ELL associated factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20564326 NCBI chr11:66,878,658...66,923,092
Ensembl chr11:66,878,658...66,923,092
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit severity ISO
ISS
MouseDO PMID:23982173 RGD:10755356 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Il21r interleukin 21 receptor ISO diffuse large B-cell lymphoma RGD PMID:11821949 RGD:1600111 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24837469 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
G Kat5 lysine acetyltransferase 5 severity ISO RGD PMID:17728759 RGD:9588481 NCBI chr 1:220,967,795...220,974,596
Ensembl chr 1:220,967,796...220,974,597
JBrowse link
G Lgals1 galectin 1 IEP protein:increased expression:primary tumor (rat) RGD PMID:16733672 RGD:2316550 NCBI chr 7:120,153,184...120,156,290
Ensembl chr 7:120,153,184...120,156,289
JBrowse link
G Mir143 microRNA 143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:56,971,273...56,971,377
Ensembl chr18:56,971,273...56,971,377
JBrowse link
G Mir145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:56,969,907...56,969,994
Ensembl chr18:56,969,907...56,969,994
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14633661 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14654083 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24531327 NCBI chr 3:164,665,462...164,711,936
Ensembl chr 3:164,665,532...164,711,848
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
G Tnfsf9 TNF superfamily member 9 ISO RGD PMID:10202049 RGD:2317349 NCBI chr 9:9,909,942...9,912,276
Ensembl chr 9:9,909,948...9,912,276
JBrowse link
B-lymphoblastic leukemia/lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase treatment ISO RGD PMID:21481795 RGD:11038814 NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 treatment ISO RGD PMID:26116659 RGD:11541128 NCBI chr17:69,761,126...69,778,021
Ensembl chr17:69,761,118...69,778,021
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Atf7ip activating transcription factor 7 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr 4:170,476,998...170,563,063
Ensembl chr 4:170,518,673...170,559,532
JBrowse link
G Bcl2l1 Bcl2-like 1 severity ISO RGD PMID:18216295 RGD:11531108 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO BCR/ABL fusion RGD PMID:9310467 RGD:41404633 NCBI chr20:14,421,250...14,546,406
Ensembl chr20:14,421,141...14,545,772
JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426
Ensembl chr20:3,910,555...3,917,426
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24154679 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:B cell (mouse) RGD PMID:23169640 RGD:11353783 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment
susceptibility
ISO DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human) RGD PMID:16618932, PMID:26104880, PMID:21622646 RGD:11251751, RGD:11057958, RGD:11251772 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 treatment ISO RGD PMID:21622646, PMID:16618932 RGD:11251772, RGD:11251751
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15122511 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:19338683 PMID:19805189 PMID:21779515 PMID:21807500 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23469205 PMID:24033266 PMID:24884479 PMID:25431674 PMID:25741868 PMID:26084796 PMID:26467025 PMID:26641009 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27083775 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27751358 PMID:27798748 PMID:28125075 PMID:28135145 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:29351919 PMID:29489754 PMID:29522266 PMID:31300551 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Crlf2 cytokine receptor-like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr14:1,456,843...1,461,543
Ensembl chr14:1,456,844...1,461,543
JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 treatment ISO DNA:polymorphisms: : RGD PMID:21225912 RGD:11353807 NCBI chr12:19,074,288...19,114,491
Ensembl chr12:19,074,583...19,114,399
JBrowse link
G Dux4 double homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27019113 NCBI chr16:3,754,968...3,766,532
Ensembl chr16:3,754,968...3,765,917
JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:23623386 PMID:25741868 NCBI chr10:2,010,140...2,037,953
Ensembl chr10:2,010,648...2,037,891
JBrowse link
G Etv6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15217836 PMID:24413735 PMID:25807284 NCBI chr 4:167,754,684...167,992,370
Ensembl chr 4:167,754,525...167,992,168
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO protein:increased expression:B lymphoblast: RGD PMID:16894461 RGD:11041855 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G F3 coagulation factor III, tissue factor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:28492532 NCBI chr13:93,651,486...93,677,371
Ensembl chr13:93,651,484...93,677,377
JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO mRNA,protein:increased expression:bone marrow: RGD PMID:8562934 RGD:11049466 NCBI chr12:9,360,439...9,437,004
Ensembl chr12:9,360,672...9,436,570
JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 disease_progression ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism
CTD PMID:24141364, PMID:22699455 RGD:11075072 NCBI chr14:91,782,281...91,867,828
Ensembl chr14:91,782,354...91,867,424
JBrowse link
G Il5 interleukin 5 ISO RGD PMID:15368290 RGD:7241068 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:25006123, PMID:20585039, PMID:21818355 RGD:11526159, RGD:11530030, RGD:11530020 NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
JBrowse link
G Irf8 interferon regulatory factor 8 ISO RGD PMID:20585039 RGD:11530030 NCBI chr19:54,314,859...54,336,643
Ensembl chr19:54,314,865...54,336,640
JBrowse link
G Mga MAX dimerization protein MGA ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr 3:111,669,645...111,760,822
Ensembl chr 3:111,699,021...111,759,911
JBrowse link
G Myb MYB proto-oncogene, transcription factor disease_progression ISO mRNA:splice variants:cds: RGD PMID:21853052 RGD:11532669 NCBI chr 1:16,658,178...16,690,135
Ensembl chr 1:16,659,442...16,687,817
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:22120021 RGD:7207416 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:23656349 PMID:25741868 PMID:28492532 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Pax5 paired box 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24013638 PMID:30643249 NCBI chr 5:60,007,587...60,191,973
Ensembl chr 5:60,007,587...60,191,941
JBrowse link
G Pbx1 PBX homeobox 1 ISO OMIM NCBI chr13:86,390,741...86,671,460
Ensembl chr13:86,390,741...86,451,002
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha treatment ISO RGD PMID:22447844 RGD:11075097 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:28492532 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Runx1 RUNX family transcription factor 1 onset ISO DNA:amplification
CTD Direct Evidence: marker/mechanism
CTD PMID:15217836 PMID:24413735, PMID:21822204 RGD:6482828 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19796711 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:26080840 PMID:26295973 PMID:28492532 NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246562 NCBI chr 7:12,146,642...12,168,400
Ensembl chr 7:12,144,162...12,168,410
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO RGD PMID:15488762 RGD:1549466 NCBI chr10:56,286,964...56,290,680
Ensembl chr10:56,286,887...56,289,952
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO DNA:mutations: : RGD PMID:22699455 RGD:11075072 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 PMID:28811308 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
B-lymphoblastic leukemia/lymphoma with BCR-ABL1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 ClinVar PMID:25741868 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 ClinVar PMID:22658618 PMID:25741868 PMID:28492532 NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
JBrowse link
B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25186627 PMID:25741868 PMID:28492532 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868 PMID:28492532 PMID:30093976 NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:192,064,586...192,088,547
Ensembl chr 1:192,064,589...192,088,520
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:10678659 PMID:12734318 PMID:12838562 PMID:18716613 PMID:25741868 NCBI chr 7:117,765,892...117,773,128
Ensembl chr 7:117,763,783...117,773,134
JBrowse link
B-lymphoblastic leukemia/lymphoma with hyperdiploidy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:25741868 PMID:28492532 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:11802209 PMID:15385441 PMID:16267036 PMID:19616529 PMID:22811390 PMID:23704879 PMID:25348012 PMID:25722345 PMID:25741868 PMID:26295337 PMID:26467025 PMID:26727311 PMID:27208206 PMID:28492532 PMID:31131967 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:17924331 PMID:18824701 PMID:21120943 PMID:21990165 PMID:25348012 PMID:25741868 PMID:26689913 PMID:28492532 PMID:31131967 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:24033266 PMID:25741868 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
B-lymphoblastic leukemia/lymphoma with hypodiploidy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy ClinVar PMID:25741868 PMID:28492532 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy ClinVar PMID:14566559 PMID:14627689 PMID:18772120 PMID:21655256 PMID:22703879 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
JBrowse link
B-lymphoblastic leukemia/lymphoma with iAMP21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
Burkitt lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4galt alpha 1,4-galactosyltransferase (P blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:11482875 NCBI chr 7:124,085,832...124,110,440
Ensembl chr 7:124,085,834...124,089,385
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Bbc3 Bcl-2 binding component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18573879 NCBI chr 1:78,261,491...78,267,802 JBrowse link
G Bcl2l2 Bcl2-like 2 ISO mRNA:increased expression:lymph node RGD PMID:28094768 RGD:14394511 NCBI chr15:33,543,774...33,549,165
Ensembl chr15:33,544,312...33,549,164
JBrowse link
G Cct6b chaperonin containing TCP1 subunit 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr10:70,069,479...70,118,194
Ensembl chr10:70,069,491...70,118,194
JBrowse link
G Cd40 CD40 molecule treatment ISO human cell line in a mouse model RGD PMID:9192773 RGD:11520790 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr20:12,806,957...12,820,466
Ensembl chr20:12,806,957...12,820,466
JBrowse link
G Gna13 G protein subunit alpha 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr10:97,647,196...97,680,030
Ensembl chr10:97,647,111...97,684,730
JBrowse link
G Id3 inhibitor of DNA binding 3, HLH protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143595 PMID:23143597 NCBI chr 5:154,489,603...154,491,172
Ensembl chr 5:154,489,590...154,491,223
JBrowse link
G Mir21 microRNA 21 treatment ISO RGD PMID:27991481 RGD:41404643 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Mir23b microRNA 23b treatment ISO RGD PMID:27991481 RGD:41404643 NCBI chr17:823,222...823,318
Ensembl chr17:823,222...823,318
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Burkitt lymphoma
DNA:mutations:exons:multiple (human)
ClinVar Annotator: match by OMIM:113970
ClinVar
OMIM
PMID:8220424 PMID:25157968, PMID:8220424, PMID:8397370 RGD:1601453, RGD:10059619 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Pbx1 PBX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982 PMID:17244677 NCBI chr13:86,390,741...86,671,460
Ensembl chr13:86,390,741...86,451,002
JBrowse link
G Pc pyruvate carboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G Sall3 spalt-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr18:77,572,200...77,591,710
Ensembl chr18:77,573,702...77,579,969
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982 PMID:17244677 NCBI chr 7:12,146,642...12,168,400
Ensembl chr 7:12,144,162...12,168,410
JBrowse link
Carrington Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:alveolar system (human) RGD PMID:11488333 RGD:11528564 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:15956791 RGD:5135443 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:15956791 RGD:5135443 NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
JBrowse link
Cd4+ Lymphocyte Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jak3 Janus kinase 3 ISO DNA:missense mutation:exon:p.C1066R (c.3196T>C) (human) RGD PMID:25205547 RGD:11531127 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
Chediak-Higashi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lyst lysosomal trafficking regulator IAGP
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar Annotator: match by term: Chediak-Higashi Syndrome
ClinVar Annotator: match by OMIM:214500
ClinVar
OMIM
PMID:8717042 PMID:8751863 PMID:8896560 PMID:9215679 PMID:9215680 PMID:10482950 PMID:10648412 PMID:11857544 PMID:17554367 PMID:18485661 PMID:21878672 PMID:24033266 PMID:24072239 PMID:24112114 PMID:25047945 PMID:25741868 PMID:26597256 PMID:27872624 PMID:28145517 PMID:28193763 PMID:28458669 PMID:28492532 PMID:30383631 PMID:30899265, PMID:10384041 RGD:633300 NCBI chr17:90,323,055...90,522,091 JBrowse link
Chemotherapy-Induced Febrile Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme severity ISO DNA:deletion:intron:IVS16+1464-1751del (human)
associated with acute leukemia;DNA:insertion/deletion:intron 16:
RGD PMID:15806540, PMID:24819208 RGD:11038917, RGD:11530041 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 susceptibility ISO associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human) RGD PMID:19332043 RGD:11353804 NCBI chr12:19,074,288...19,114,491
Ensembl chr12:19,074,583...19,114,399
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa treatment ISO associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human) RGD PMID:27282998 RGD:11344967 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : rs1695(human) RGD PMID:25008867 RGD:10755412 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Itpa inosine triphosphatase ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human) RGD PMID:18685564 RGD:10766478 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility
disease progression
ISO associated with leukemia;
associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:exon:
associated with Neoplasms;DNA:SNP,haplotyep:promoter:
RGD PMID:24819208, PMID:24453114, PMID:20930093 RGD:11530041, RGD:11530056, RGD:11530043 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mdm2 MDM2 proto-oncogene susceptibility ISO associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human) RGD PMID:21706156 RGD:11073725 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
JBrowse link
G Tp53 tumor protein p53 susceptibility ISO associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human) RGD PMID:21706156 RGD:11073725 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
chronic granulomatous disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyba cytochrome b-245 alpha chain ISO autosomal recessive cytochrome b-negative CGD, OMIM:233690;DNA:missense mutation: :p.R90Q (human)
ClinVar Annotator: match by term: Chronic granulomatous disease
CTD Direct Evidence: marker/mechanism
DNA:nonsense,missense mutations:exons:35C>T, 98G>A,(p.Q3X,G24R)(human)
DNA:mutations:multiple (human)
ClinVar
CTD
PMID:1763037 PMID:2243141 PMID:10759707 PMID:10910929 PMID:19292887 PMID:20167518 PMID:25741868 PMID:28492532 PMID:29454792, PMID:1415254, PMID:10759707, PMID:2243141 RGD:1600791, RGD:11040541, RGD:734861 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Cybb cytochrome b-245 beta chain ISO DNA:point mutations:promoter
ClinVar Annotator: match by term: Chronic granulomatous disease
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:mutations:promoter:
ClinVar
CTD
PMID:11045425 PMID:11122248 PMID:11498749 PMID:17293536 PMID:21278736 PMID:28492532, PMID:8083361, PMID:11122248 RGD:1599664, RGD:11040566 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:4125296 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ifng interferon gamma ISO RGD PMID:22883043 RGD:6893353 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO
ISS
autosomal recessive cytochrome b-positive CGC type I, OMIM:233700, DNA:splice-site mutation:75delGT
OMIM:138990 | OMIM:233690 | OMIM:233700 | OMIM:233710 | OMIM:306400 | OMIM:613960
MouseDO PMID:7678602, PMID:2393022 RGD:1600562, RGD:1624401 NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: Chronic granulomatous disease ClinVar PMID:2393022 RGD:1624401 NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Granulomatous Disease, Chronic
ClinVar Annotator: match by term: Chronic granulomatous disease
ClinVar PMID:19692703 PMID:29969437 NCBI chr 7:119,481,711...119,499,426
Ensembl chr 7:119,482,272...119,499,425
JBrowse link
G Tlr5 toll-like receptor 5 ISO protein:decreased expression:blood, neutrophil (human) RGD PMID:18155283 RGD:5130865 NCBI chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764
JBrowse link
G Tlr9 toll-like receptor 9 ISO protein:decreased expression:blood, neutrophil (human) RGD PMID:18155283 RGD:5130865 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
Combined Cellular and Humoral Immune Defects with Granulomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iftap intraflagellar transport associated protein ISO ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas ClinVar PMID:8810255 PMID:25739914 PMID:28492532 NCBI chr 3:91,086,186...91,195,981
Ensembl chr 3:91,086,186...91,195,981
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas
ClinVar Annotator: match by OMIM:233650
OMIM
ClinVar
PMID:8810255 PMID:9630231 PMID:10701853 PMID:10891452 PMID:11133745 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:15908971 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17572155 PMID:17890453 PMID:18056378 PMID:18442948 PMID:18463379 PMID:18592361 PMID:18701881 PMID:18822103 PMID:19064334 PMID:19246248 PMID:19458910 PMID:19830075 PMID:19912631 PMID:20109747 PMID:20489056 PMID:20956421 PMID:21131235 PMID:21184155 PMID:21502542 PMID:21624848 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24331380 PMID:24406074 PMID:24418478 PMID:24472623 PMID:24817258 PMID:24985406 PMID:25516070 PMID:25739914 PMID:25741868 PMID:25976673 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26829731 PMID:27301863 PMID:27609655 PMID:28216420 PMID:28492532 PMID:28747913 PMID:28769923 PMID:28864286 PMID:30290665 PMID:30307608 PMID:30858051 NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas
ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas
OMIM
ClinVar
PMID:8810255 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 PMID:11313270 PMID:15025726 PMID:16111638 PMID:16960852 PMID:17572155 PMID:18033247 PMID:18463379 PMID:19178939 PMID:19414857 PMID:20234091 PMID:20603253 PMID:21131235 PMID:21502542 PMID:21624848 PMID:21625022 PMID:21664875 PMID:22295088 PMID:23243423 PMID:23994475 PMID:24139496 PMID:24144642 PMID:24174341 PMID:24331380 PMID:24481607 PMID:24996264 PMID:25707801 PMID:25739914 PMID:25741868 PMID:25869295 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26515615 PMID:26692406 PMID:26915675 PMID:26996199 PMID:28492532 PMID:28747913 PMID:28769923 PMID:29051008 PMID:29772310 PMID:30305145 PMID:30307608 PMID:31334206 PMID:31388879 NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
JBrowse link
cutaneous mastocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: MASTOCYTOSIS, CUTANEOUS
ClinVar Annotator: match by term: Cutaneous mastocytosis
ClinVar PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 PMID:9827716 PMID:9990072 PMID:11276010 PMID:11380399 PMID:11493470 PMID:11505412 PMID:12960119 PMID:15173254 PMID:15790786 PMID:15972446 PMID:16307017 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16908931 PMID:16912224 PMID:17259998 PMID:17372901 PMID:18024392 PMID:18980976 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19812602 PMID:19865100 PMID:20736294 PMID:21159146 PMID:21689725 PMID:22357254 PMID:22504184 PMID:22703879 PMID:23582185 PMID:23714533 PMID:24045550 PMID:24728327 PMID:24755198 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 PMID:31775759 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
G Kitlg KIT ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:20559008 NCBI chr 7:42,269,784...42,351,054
Ensembl chr 7:42,269,784...42,351,054
JBrowse link
cyclic hematopoiesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar Annotator: match by OMIM:162800
DNA:mutations: :
OMIM
ClinVar
PMID:10581030 PMID:11001877 PMID:11675333 PMID:14962902 PMID:16079102 PMID:16551967 PMID:16737875 PMID:17391497 PMID:18028488 PMID:18611981 PMID:19036076 PMID:19775295 PMID:20049848 PMID:20582973 PMID:21425445 PMID:22148006 PMID:22624626 PMID:22758217 PMID:23463630 PMID:24523240 PMID:24616599 PMID:25427142 PMID:25703294 PMID:25741868 PMID:26567890 PMID:28492532 PMID:30040071 PMID:30273710 PMID:30635825 PMID:32581362, PMID:21425445 RGD:10450519 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
JBrowse link
diffuse cutaneous mastocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: MASTOCYTOSIS, DIFFUSE CUTANEOUS ClinVar PMID:16307017 PMID:22703879 PMID:24728327 PMID:25741868 PMID:28492532 PMID:31775759 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
diffuse large B-cell lymphoma 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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21325069 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21625222 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Alk ALK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
JBrowse link
G B2m beta-2 microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7688627 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Bcas2 BCAS2, pre-mRNA processing factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 2:205,662,633...205,670,514
Ensembl chr 2:205,662,588...205,670,511
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l2 Bcl2-like 2 disease_progression ISO RGD PMID:28094768 RGD:14394511 NCBI chr15:33,543,774...33,549,165
Ensembl chr15:33,544,312...33,549,164
JBrowse link
G Bcl6 BCL6, transcription repressor disease_progression ISO diffuse large B-cell lymphoma RGD PMID:11821949, PMID:15701085 RGD:1600111, RGD:11530023 NCBI chr11:80,255,790...80,279,075
Ensembl chr11:80,255,790...80,279,075
JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO DNA:missense mutations:exons:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:25049379 PMID:26192916, PMID:18323416 RGD:11100036 NCBI chr12:15,700,600...15,844,512
Ensembl chr12:15,700,825...15,844,512
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccdc86 coiled-coil domain containing 86 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23828858 NCBI chr 1:226,996,435...227,002,016
Ensembl chr 1:226,996,237...227,002,139
JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) RGD PMID:20473910 RGD:5490541 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd79a CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:25049379 NCBI chr 1:81,763,609...81,768,039
Ensembl chr 1:81,763,614...81,767,980
JBrowse link
G Cd79b CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr10:94,497,445...94,500,591
Ensembl chr10:94,497,448...94,500,591
JBrowse link
G Cdk1 cyclin-dependent kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19223503 NCBI chr20:20,576,341...20,591,510
Ensembl chr20:20,576,377...20,591,549
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21325069 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cltc clathrin heavy chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr10:74,014,560...74,070,578
Ensembl chr10:74,014,562...74,070,266
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20081860 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa disease_progression ISO DNA:SNP: :rs1801274 (human) RGD PMID:27282998 RGD:11344967 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Gli1 GLI family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21625222 NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
JBrowse link
G Gstm1 glutathione S-transferase mu 1 treatment ISO RGD PMID:20303013 RGD:10450835 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:SNP: :(rs1695)(human) RGD PMID:19338043 RGD:8547939 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 severity ISO DNA:deletion:cds: RGD PMID:20303013 RGD:10450835 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Icam1 intercellular adhesion molecule 1 disease_progression ISO proteion:increased expression:serum: RGD PMID:12598355 RGD:11354982 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il21r interleukin 21 receptor ISO diffuse large B-cell lymphoma RGD PMID:11821949 RGD:1600111 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
G Immp2l inner mitochondrial membrane peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 6:60,958,351...61,859,457 JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression ISO RGD PMID:15701085 RGD:11530023 NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804550 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G Malt1 MALT1 paracaspase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr18:61,108,712...61,162,446
Ensembl chr18:61,109,069...61,162,445
JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:20919850 RGD:6483541 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human) RGD PMID:17712558 RGD:6893517 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25049379 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 1:80,631,449...80,666,617
Ensembl chr 1:80,631,450...80,666,585
JBrowse link
G Nfkbia NFKB inhibitor alpha no_association ISO RGD PMID:15198731 RGD:2298905 NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
G Nom1 nucleolar protein with MIF4G domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr 4:2,340,034...2,356,427
Ensembl chr 4:2,340,148...2,356,068
JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr10:13,446,373...13,525,248
Ensembl chr10:13,451,624...13,515,448
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr 8:107,275,849...107,381,088
Ensembl chr 8:107,275,725...107,380,933
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr 5:166,602,053...166,628,028
Ensembl chr 5:166,602,053...166,628,028
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
JBrowse link
G Prdx3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 1:282,238,774...282,251,193
Ensembl chr 1:282,238,773...282,251,257
JBrowse link
G Prdx4 peroxiredoxin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr  X:43,495,453...43,512,994
Ensembl chr  X:43,497,763...43,512,991
JBrowse link
G Rangap1 RAN GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27150054 NCBI chr 7:122,939,266...122,967,178
Ensembl chr 7:122,940,376...122,967,178
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19223503 NCBI chr10:73,824,200...73,865,503
Ensembl chr10:73,824,202...73,865,364
JBrowse link
G Sec31a SEC31 homolog A, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr14:10,854,713...10,909,579
Ensembl chr14:10,854,682...10,909,612
JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18850583 NCBI chr 2:58,506,146...58,534,211
Ensembl chr 2:58,506,151...58,534,211
JBrowse link
G Smurf2 SMAD specific E3 ubiquitin protein ligase 2 ISS MouseDO NCBI chr10:95,018,050...95,118,107
Ensembl chr10:95,018,059...95,062,987
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Sod3 superoxide dismutase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr14:60,958,583...60,971,143
Ensembl chr14:60,958,592...60,964,324
JBrowse link
G Tp53 tumor protein p53 ISS MouseDO NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Txnip thioredoxin interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 2:198,683,168...198,686,971
Ensembl chr 2:198,683,159...198,686,974
JBrowse link
Drug-Induced Agranulocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3 colony stimulating factor 3 treatment ISO associated with Graves Disease;
associated with Multiple Myeloma;
RGD PMID:15785251, PMID:8935143 RGD:11039034, RGD:11039041 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO associated with Leukemia;protein:decreased expression:serum: RGD PMID:8698137 RGD:11528539 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Nat2 N-acetyltransferase 2 ISO associated with Inflammation; RGD PMID:10739170 RGD:11532771 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
Drug-Induced Leukopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 susceptibility ISO associated with Ovarian Neoplasms: DNA:polymorphism: : RGD PMID:21702053 RGD:11353800 NCBI chr 1:147,236,480...147,307,988 JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 susceptibility ISO associated with Ovarian Neoplasms: DNA:polymorphism: : RGD PMID:21702053 RGD:11353800 NCBI chr12:19,074,288...19,114,491
Ensembl chr12:19,074,583...19,114,399
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO associated with Urologic Neoplasms;DNA:polymorphism:cds:p.I105V(human) RGD PMID:17593093 RGD:10755415 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 severity ISO associated with diffuse large B-cell lymphoma; DNA:deletion:cds: RGD PMID:20303013 RGD:10450835 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
Drug-induced Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human)
Breast Neoplasms;DNA:SNP: :3435 C>T(human)
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human)
RGD PMID:17534875, PMID:22271208, PMID:25007187 RGD:11080964, RGD:11081001, RGD:11080979 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 susceptibility
no_association
ISO associated with neoplasm;DNA:SNP:rs12762549(human) RGD PMID:18294295, PMID:23188068 RGD:11080980, RGD:11080999 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO associated with Leukemia, Hairy Cell;
associated with Hepatitis C, Chronic;
RGD PMID:2461131, PMID:17660602 RGD:11039035, RGD:11039036 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 susceptibility ISO associated with Ovarian Neoplasms: DNA:polymorphism: : RGD PMID:21702053 RGD:11353800 NCBI chr 1:147,236,480...147,307,988 JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 susceptibility ISO associated with Ovarian Neoplasms: DNA:polymorphism: :
associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human)
RGD PMID:21702053, PMID:19332043 RGD:11353800, RGD:11353804 NCBI chr12:19,074,288...19,114,491
Ensembl chr12:19,074,583...19,114,399
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase treatment
no_association
ISO associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human)
associated with Neoplasms;DNA:missense mutations: :multiple
associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human)
DNA:splice-site mutation, missense mutations: :multiple
associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human)
RGD PMID:12209976, PMID:19473056, PMID:19473056, PMID:11156223, PMID:23942539 RGD:11251736, RGD:11098817, RGD:11098817, RGD:11251738, RGD:11251737 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO associated with Colorectal Neoplasms;DNA:SNP RGD PMID:23543295 RGD:11340199 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit treatment ISO associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:21047201 RGD:11098572 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa ISO associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human)
associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human)
associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human)
RGD PMID:21883784, PMID:20730791, PMID:19933905 RGD:11344964, RGD:11352256, RGD:11344973 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:SNP:cds:p.I105V (rs1695) (human) RGD PMID:23812950 RGD:10755330 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO associated with breast cancer RGD PMID:23812950 RGD:10755330 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Il1a interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung RGD PMID:7666093 RGD:11051963 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Mdm2 MDM2 proto-oncogene susceptibility ISO associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human) RGD PMID:24732641 RGD:11073715 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:27400856 RGD:14928329 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Slco1b2 solute carrier organic anion transporter family member 1B2 susceptibility
no_association
ISO associated with neoplasm;DNA:SNP:rs11045585(human)
associated with neoplasm;DNA:SNP: rs11045585(human)
RGD PMID:18294295, PMID:23188068 RGD:11080980, RGD:11080999 NCBI chr 4:175,814,118...175,881,775
Ensembl chr 4:175,814,118...175,881,768
JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO associated with female breast cancer;DNA:missense mutation:cds:p.V16A (rs4880) (human) RGD PMID:20309628 RGD:11035278 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tp53 tumor protein p53 susceptibility ISO associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human) RGD PMID:24732641 RGD:11073715 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 susceptibility
treatment
ISO associated with neoplasms;DNA:polymorphism, repeat:promoter:-3156G>A, TA (human)
associated with Carcinoma, Non-Small-Cell Lung; DNA:repeat:promoter:(TA)
associated with Esophageal Neoplasms,Stomach Neoplasm;DNA:repeat:promoter:(TA)
associated with Adenocarcinoma, Colorectal;DNA:repeat:promoter:(TA) (rs8175347)
associated with Genital Neoplasms, Female;DNA:polymorphisms: :
RGD PMID:15007088, PMID:16636344, PMID:23783485, PMID:20177420, PMID:24932285 RGD:10768826, RGD:10769339, RGD:10769336, RGD:10769334, RGD:10768867 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
Dursun Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Dursun syndrome ClinVar PMID:19011569 PMID:20799326 PMID:25741868 NCBI chr10:90,134,193...90,138,425
Ensembl chr10:90,134,193...90,138,425
JBrowse link
Eosinophilia 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 ISO associated with Chronic Rhinosinusitis;protein:increased expression:mucosa of ethmoidal sinus (human) RGD PMID:24717943 RGD:8657092 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO RGD PMID:10385260 RGD:4891039 NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO associated with Sinusitis RGD PMID:19296494 RGD:4891487 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 severity ISO associated with Lymphoma, T-Cell RGD PMID:18395252 RGD:11354898 NCBI chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671
JBrowse link
G Ccl24 C-C motif chemokine ligand 24 ISO associated with Sinusitis RGD PMID:19296494 RGD:4891487 NCBI chr12:24,131,529...24,152,626
Ensembl chr12:24,148,567...24,152,625
JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO associated with Sinusitis
associated with Pleural Effusion
RGD PMID:19296494, PMID:15947325 RGD:4891487, RGD:5130928 NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO associated with Asthma RGD PMID:17983872 RGD:4145642 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO RGD PMID:24078688 RGD:40903041 NCBI chr 3:164,424,502...164,425,933
Ensembl chr 3:164,424,515...164,425,910
JBrowse link
G Cyba cytochrome b-245 alpha chain IAGP DNA:deletion:splice junction: RGD PMID:19406829, PMID:20660993, PMID:21512270 RGD:11040542, RGD:5134976, RGD:5134988 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Cybam1Sdi cytochrome b-245 alpha chain;mutant 1,Sdi IAGP RGD PMID:19406829, PMID:20660993, PMID:21512270 RGD:11040542, RGD:5134976, RGD:5134988
G Fip1l1 factor interacting with PAPOLA and CPSF1 ISO DNA:gene fusion RGD PMID:23114151 RGD:11075088 NCBI chr14:36,150,381...36,208,395
Ensembl chr14:36,150,399...36,208,373
JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: therapeutic CTD PMID:27315767 NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
JBrowse link
G Il5 interleukin 5 treatment
severity
IEP
ISO
CTD Direct Evidence: marker/mechanism
associated with Toxocariasis
associated with Dermatitis, Atopic;DNA:polymorphism:promoter:-703C>T (human)
associated with Lymphoma, T-Cell
CTD PMID:1988543 PMID:11006010, PMID:11884473, PMID:1699772, PMID:1988543, PMID:14581138, PMID:18395252 RGD:625643, RGD:11354933, RGD:11354921, RGD:11354913, RGD:11354898 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Il5ra interleukin 5 receptor subunit alpha ISO RGD PMID:21762978 RGD:11354970 NCBI chr 4:138,796,165...138,834,164
Ensembl chr 4:138,795,327...138,830,117
JBrowse link
G Kng2 kininogen 2 IDA RGD PMID:1937926 RGD:11059896 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26882889 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO DNA:translocation: (human)
DNA:gene fusion
RGD PMID:15284118, PMID:23114151 RGD:1580848, RGD:11075088 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Rag2 recombination activating 2 ISO CTD Direct Evidence: therapeutic CTD PMID:27315767 NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
JBrowse link
G Sharpin SHANK-associated RH domain interactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19650867 NCBI chr 7:117,413,151...117,417,455
Ensembl chr 7:117,413,152...117,417,363
JBrowse link
G Tlr2 toll-like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26882889 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26882889 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
eosinophilia-myalgia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Ba RT1 class II, locus Ba ISO CTD Direct Evidence: marker/mechanism CTD PMID:19790128 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19790128 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
eosinophilic esophagitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ang angiogenin ISO RGD PMID:22331014 RGD:6771318 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Ankrd27 ankyrin repeat domain 27 ISO DNA:SNPs:intron: (rs3815700, rs10410895) (human) RGD PMID:25407941 RGD:11100048 NCBI chr 1:91,857,048...91,958,763
Ensembl chr 1:91,857,057...91,958,763
JBrowse link
G Ccl26 C-C motif chemokine ligand 26 treatment ISO protein:increased expression:esophagus (human) RGD PMID:18844613, PMID:24704289 RGD:11081156, RGD:11081157 NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:1316818 RGD:6893390 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Cd40lg CD40 ligand ISO protein:decreased expression:plasma RGD PMID:21211656 RGD:5490306 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 treatment ISO DNA:polymorphisms:: RGD PMID:26416193 RGD:11352743 NCBI chr 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007
JBrowse link
G Il5 interleukin 5 ISO RGD PMID:23161496 RGD:11354947 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:esophagus (human) RGD PMID:22331014 RGD:6771318 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:24486052 RGD:11073602 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tslp thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20208534 NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
JBrowse link
eosinophilic gastroenteritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl26 C-C motif chemokine ligand 26 ISO mRNA:increased expression:gastric antrum (human) RGD PMID:25234644 RGD:11081160 NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:intestine, eosinophil RGD PMID:8608886 RGD:11354940 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
Eosinophilic Pustular Folliculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:skin, sebocyte (human) RGD PMID:22206772 RGD:11081159 NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
Febrile Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO associated with Hematologic Diseases;protein:increased expression:plasma (human) RGD PMID:23369970 RGD:11528559 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
follicular lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691987 NCBI chr  X:156,407,973...156,415,053
Ensembl chr  X:156,407,937...156,415,145
JBrowse link
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691987 NCBI chr16:22,326,537...22,350,143
Ensembl chr16:22,326,529...22,350,155
JBrowse link
G Bcl10 BCL10, immune signaling adaptor ISO ClinVar Annotator: match by term: Follicular lymphoma, UMLS MESH term: Giant Follicular Lymphomas ClinVar PMID:9989495 NCBI chr 2:251,805,392...251,814,957
Ensembl chr 2:251,805,392...251,814,957
JBrowse link
G Bcl2 BCL2, apoptosis regulator susceptibility ISO DNA:translocation: ;t(14;18)(q32;q21)
CTD Direct Evidence: marker/mechanism
CTD PMID:3287162 PMID:12855623, PMID:16671111, PMID:3287162 RGD:1599473, RGD:734639 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) RGD PMID:20473910 RGD:5490541 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO human gene in a mouse model RGD PMID:25582824 RGD:11344981 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Ebf1 EBF transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chr10:23,654,849...24,051,627
Ensembl chr10:23,661,013...24,050,209
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Irf4 interferon regulatory factor 4 severity ISO RGD PMID:17296585 RGD:11530032 NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25526675, PMID:8417785 RGD:1598985 NCBI chr13:26,779,386...26,812,271
Ensembl chr13:26,780,633...26,812,215
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16410450 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16410450 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
G Rragc Ras-related GTP binding C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691987 NCBI chr 5:141,572,536...141,590,784
Ensembl chr 5:141,572,536...141,590,781
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chr 1:14,401,103...14,416,369
Ensembl chr 1:14,402,913...14,412,807
JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16410450 NCBI chr 9:121,918,875...121,931,564
Ensembl chr 9:121,918,947...121,931,564
JBrowse link
hereditary neutrophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3r colony stimulating factor 3 receptor ISO
ISS
ClinVar Annotator: match by OMIM:162830 ClinVar
MouseDO
PMID:12203110 PMID:19620628 NCBI chr 5:144,031,353...144,051,966
Ensembl chr 5:144,031,402...144,051,600
JBrowse link
hyper IgE recurrent infection syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4r interleukin 4 receptor no_association ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:25741868 PMID:32207811 NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
ClinVar Annotator: match by term: Job syndrome
ClinVar
OMIM
PMID:4161105 PMID:17676033 PMID:17881745 PMID:17942886 PMID:18591410 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 PMID:19577286 PMID:20032313 PMID:20048285 PMID:20159255 PMID:20301786 PMID:20816194 PMID:21107604 PMID:21324546 PMID:21690253 PMID:21792878 PMID:22030463 PMID:22581330 PMID:22591296 PMID:22751495 PMID:23342295 PMID:23584561 PMID:23584591 PMID:23659370 PMID:23830147 PMID:24033266 PMID:24452316 PMID:24627079 PMID:24995504 PMID:25038750 PMID:25359994 PMID:25741868 PMID:25873174 PMID:26384563 PMID:26702067 PMID:26743515 PMID:27091139 PMID:27226025 PMID:27302695 PMID:27379089 PMID:27799162 PMID:27980540 PMID:28098554 PMID:28197791 PMID:28253502 PMID:28315006 PMID:28492532 PMID:28579554 PMID:28587312 PMID:28977911 PMID:29077208 PMID:29162862 PMID:29296824 PMID:29330115 PMID:29868029, PMID:17676033 RGD:6892956 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
hyper IgE recurrent infection syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock8 dedicator of cytokinesis 8 ISO DNA:mutation:cds: OMIM PMID:21763205 RGD:40907054 NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
JBrowse link
hyper IgE recurrent infection syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp341 zinc finger protein 341 ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE ClinVar
OMIM
PMID:25741868 PMID:29907690 PMID:29907691 NCBI chr 3:150,114,853...150,172,425 JBrowse link
hyper IgE recurrent infection syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE ClinVar
OMIM
PMID:28747427 PMID:30309848 NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
JBrowse link
hyper IgE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1H9orf66 chromosome 1 open reading frame, human C9orf66 ISO ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar PMID:20226292 PMID:22476911 PMID:25724123 PMID:26680607 PMID:27980540 PMID:28492532 NCBI chr 1:242,958,912...242,961,750 JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by OMIM:243700
ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar
CTD
PMID:14722525 PMID:16391785 PMID:18060736 PMID:19776401 PMID:20226292 PMID:22476911 PMID:24033266 PMID:24797421 PMID:25724123 PMID:25741868 PMID:26046366 PMID:26573532 PMID:26680607 PMID:26744459 PMID:27379089 PMID:27872624 PMID:27890707 PMID:27980540 PMID:28492532 PMID:29867916 NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
JBrowse link
G Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:24698316 NCBI chr 8:94,122,733...94,225,131
Ensembl chr 8:94,122,728...94,225,031
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16112032 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672 PMID:24698316 NCBI chr 8:94,225,513...94,243,230
Ensembl chr 8:94,225,515...94,243,215
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar Annotator: match by term: Hyperimmunoglobulin E syndrome
CTD
ClinVar
PMID:17881745 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 PMID:20032313 PMID:20159255 PMID:20301786 PMID:20816194 PMID:21792878 PMID:22751495 PMID:24033266 PMID:25038750 PMID:25741868 PMID:26384563 PMID:27226025 PMID:27799162 PMID:27980540 PMID:28098554 PMID:28315006 PMID:28492532 PMID:29077208 PMID:29868029 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
Hyper-IgE Recurrent Infection Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE ClinVar
OMIM
PMID:31235509 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
hypereosinophilic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V ISO RGD PMID:15026880 RGD:1580361 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Fip1l1 factor interacting with PAPOLA and CPSF1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778211 PMID:28347583 PMID:31036733 NCBI chr14:36,150,381...36,208,395
Ensembl chr14:36,150,399...36,208,373
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO DNA:translocation: (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Idiopathic hypereosinophilic syndrome
ClinVar Annotator: match by OMIM:607685
ClinVar Annotator: match by term: Hypereosinophilic syndrome, idiopathic, resistant to imatinib
CTD
ClinVar
OMIM
PMID:12660384 PMID:16778211 PMID:20071345 PMID:20169295 PMID:22703879 PMID:22718859 PMID:24033266 PMID:24728327 PMID:25336117 PMID:25741868 PMID:26928227 PMID:28347583 PMID:28492532 PMID:30359545 PMID:30389923 PMID:31036733, PMID:12660384 RGD:9693733 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8896393 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
idiopathic CD4-positive T-lymphocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc119 unc-119 lipid binding chaperone ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:65,606,919...65,612,324
Ensembl chr10:65,606,898...65,612,324
JBrowse link
immunodeficiency 32B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Immunodeficiency 32b
ClinVar Annotator: match by term: IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Monocyte and dendritic cell deficiency, autosomal recessive
ClinVar
OMIM
CTD
PMID:6279813 PMID:21524210 PMID:25122610 PMID:25741868 PMID:26038974 PMID:27893462 PMID:28492532 NCBI chr19:54,314,859...54,336,643
Ensembl chr19:54,314,865...54,336,640
JBrowse link
immunodeficiency 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Atypical mycobacteriosis, familial, X-linked 2
ClinVar Annotator: match by OMIM:300645
OMIM
ClinVar
PMID:17293536 PMID:21278736 PMID:25741868 PMID:28492532 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
JBrowse link
immunodeficiency 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyk2 tyrosine kinase 2 ISO ClinVar Annotator: match by term: Tyrosine kinase 2 deficiency
ClinVar Annotator: match by OMIM:611521
OMIM
ClinVar
PMID:17088085 PMID:21680795 PMID:22402565 PMID:24033266 PMID:25388448 PMID:25741868 PMID:25849893 PMID:26288847 PMID:26304966 PMID:27872624 PMID:28492532 PMID:29725107 PMID:31118190 NCBI chr 8:22,118,224...22,149,807
Ensembl chr 8:22,124,560...22,150,005
JBrowse link
immunodeficiency 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality OMIM
ClinVar
PMID:27913302 NCBI chr 8:48,699,796...48,711,912
Ensembl chr 8:48,699,769...48,711,910
JBrowse link
immunodeficiency 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc1b actin related protein 2/3 complex, subunit 1B ISO ClinVar Annotator: match by term: PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE
ClinVar Annotator: match by term: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA
ClinVar
OMIM
PMID:25741868 PMID:28368018 PMID:29127144 PMID:30254128 PMID:32499645 NCBI chr12:11,252,300...11,265,849
Ensembl chr12:11,252,296...11,265,865
JBrowse link
infectious mononucleosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fas Fas cell surface death receptor ISO protein:increased expression:monocyte, neutrophil, serum: RGD PMID:11185989 RGD:11049152 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO protein:increased expression:lymphocyte, serum: RGD PMID:11185989 RGD:11049152 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO RGD PMID:23628056 RGD:38501103 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:22537952 RGD:10450797 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:22537952 RGD:10450797 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism:cds:HLA-DRB1*0101 (human) RGD PMID:21482926 RGD:40818406 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:7964476 RGD:11035288 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
Lazy Leukocyte Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr1 WD repeat domain 1 ISO ClinVar Annotator: match by term: Lazy leukocyte syndrome
ClinVar Annotator: match by term: WDR1 deficiency
ClinVar
OMIM
PMID:205284 PMID:27557945 PMID:27994071 PMID:29751004 NCBI chr14:76,990,014...77,023,739
Ensembl chr14:76,989,919...77,023,726
JBrowse link
Leukemoid Reaction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Leukemoid Reaction ClinVar PMID:18397343 PMID:20400977 PMID:28492532 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
leukocyte adhesion deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency
CTD Direct Evidence: marker/mechanism
DNA:deletion, nonsense mutations:exons:1622_1657del, 2200G>T (human)
DNA:mutations:multiple
DNA:mutation:exon:p.R188X(human)
DNA:mutations:cds:p.D231H, G284S (human)
ClinVar
CTD
PMID:1346613 PMID:1347532 PMID:1590804 PMID:1694220 PMID:1968911 PMID:6142255 PMID:6237120 PMID:7143170 PMID:7686755 PMID:7705401 PMID:9653089 PMID:9884339 PMID:10712675 PMID:10886250 PMID:11703376 PMID:12488604 PMID:17875809 PMID:22134107 PMID:25514840 PMID:25703682 PMID:25741868 PMID:26639818 PMID:28492532 PMID:30412664, PMID:1968911, PMID:14512306, PMID:20549317, PMID:21103413, PMID:10886250 RGD:1600220, RGD:6482225, RGD:6482224, RGD:6482223, RGD:6482222 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
leukocyte adhesion deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt3 FERM domain containing kindlin 3 ISO DNA:nonsense mutations:exon:p.R509X, p.R573X, p.W229X (human) RGD PMID:19064721 RGD:11352306 NCBI chr 1:222,254,183...222,272,775
Ensembl chr 1:222,254,184...222,272,285
JBrowse link
G Itgb2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1
ClinVar Annotator: match by term: Leukocyte adhesion deficiency type 1
ClinVar Annotator: match by OMIM:116920
OMIM
ClinVar
PMID:1346613 PMID:1590804 PMID:1968911 PMID:7143170 PMID:7686755 PMID:7705401 PMID:9884339 PMID:10886250 PMID:11703376 PMID:11882363 PMID:12377933 PMID:12488604 PMID:16595236 PMID:17875809 PMID:18675632 PMID:19171538 PMID:20549317 PMID:20807363 PMID:21103413 PMID:22134107 PMID:24033266 PMID:25135596 PMID:25514840 PMID:25703682 PMID:25741868 PMID:25858935 PMID:26639818 PMID:28492532 PMID:30412664 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
leukocyte adhesion deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt3 FERM domain containing kindlin 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency, type III
DNA:nonsense mutation, splice-site mutation:exon:p.R509X (1525C>T) (human)
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:612840
OMIM
ClinVar
PMID:12511588 PMID:18779414 PMID:19064721 PMID:19234460 PMID:19234463 PMID:20357244 PMID:21441448 PMID:22134107 PMID:22564402 PMID:25741868 PMID:28492532, PMID:19234463 RGD:11352305 NCBI chr 1:222,254,183...222,272,775
Ensembl chr 1:222,254,184...222,272,285
JBrowse link
G Rasgrp2 RAS guanyl releasing protein 2 ISS OMIM:612840 MouseDO NCBI chr 1:221,771,238...221,788,765
Ensembl chr 1:221,773,254...221,788,765
JBrowse link
Leukocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Csf3 colony stimulating factor 3 ISO associated with neoplasms; RGD PMID:18756972 RGD:11039421 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Csf3r colony stimulating factor 3 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19620628 NCBI chr 5:144,031,353...144,051,966
Ensembl chr 5:144,031,402...144,051,600
JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27099147 PMID:27725143 NCBI chr12:9,360,439...9,437,004
Ensembl chr12:9,360,672...9,436,570
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014, PMID:19633061, PMID:1581467 RGD:4142837, RGD:10450884 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO associated with Meningitis, Listeria; RGD PMID:10085034 RGD:11522759 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Itga4 integrin subunit alpha 4 IMP RGD PMID:12626659 RGD:9698418 NCBI chr 3:66,178,745...66,265,547
Ensembl chr 3:66,193,059...66,263,960
JBrowse link
G Kng2 kininogen 2 IDA RGD PMID:5116037 RGD:11059893 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Npy5r neuropeptide Y receptor Y5 IDA RGD PMID:12417430 RGD:729324 NCBI chr16:24,796,685...24,805,730
Ensembl chr16:24,797,124...24,805,079
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
leukopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2187653 NCBI chr 6:136,682,279...136,701,673
Ensembl chr 6:136,682,126...136,701,628
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:7543699 PMID:16076697 PMID:16120623 PMID:16937080 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment ISO associated with WHIM Syndrome; DNA:nonsense mutation: cds:p.R334X(human) RGD PMID:21890643 RGD:6480654 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:19555437 RGD:10450844 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:19555437 RGD:10450844 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7678812 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il3 interleukin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:8202718 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19648163 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nat2 N-acetyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12795783 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G Plat plasminogen activator, tissue type ISO associated with Sepsis;protein:decreased expression:plasma (human) RGD PMID:7646991 RGD:11552575 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Thoc5 THO complex 5 ISO RGD PMID:20051105 RGD:2317224 NCBI chr14:85,138,219...85,171,729
Ensembl chr14:85,142,279...85,171,726
JBrowse link
G Tpmt thiopurine S-methyltransferase no_association ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :multiple
DNA:SNP:exon:719A>G (human)
CTD PMID:18662289 PMID:22535280 PMID:25108385, PMID:16044099, PMID:20308917, PMID:20308917, PMID:24322830 RGD:11038721, RGD:11038727, RGD:11038727, RGD:11038725 NCBI chr17:18,029,090...18,047,716
Ensembl chr17:18,029,124...18,047,714
JBrowse link
leukostasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme IMP associated with Diabetes Mellitus, Experimental RGD PMID:16822509 RGD:11039403 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28294475 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10485912 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: therapeutic CTD PMID:12468449 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO associated with Diabetic Retinopathy; human protein in a rat model RGD PMID:16797605 RGD:8554884 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
Lymphoma, AIDS-Related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase disease_progression ISO RGD PMID:18090274 RGD:32716407 NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7680712 PMID:9817281 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:12176798 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Sdc1 syndecan 1 ISO protein:altered expression:tumor (human) RGD PMID:11157493 RGD:9743929 NCBI chr 6:33,885,576...33,908,038
Ensembl chr 6:33,885,495...33,908,016
JBrowse link
G Tfrc transferrin receptor treatment ISO RGD PMID:26325374 RGD:11062098 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
JBrowse link
lymphopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO RGD PMID:9478961 RGD:1300251 NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
JBrowse link
G Atg5 autophagy related 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26568842 NCBI chr20:49,301,783...49,393,147
Ensembl chr20:49,318,308...49,393,140
JBrowse link
G Atg7 autophagy related 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26568842 NCBI chr 4:146,570,113...146,777,093
Ensembl chr 4:146,598,413...146,777,124
JBrowse link
G Cbl Cbl proto-oncogene onset ISO RGD PMID:20404156 RGD:11038797 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Ccl28 C-C motif chemokine ligand 28 IEP protein:decreased expression:small intestine villus (rat) RGD PMID:19393265 RGD:4892224 NCBI chr 2:52,379,341...52,403,979
Ensembl chr 2:52,379,341...52,404,246
JBrowse link
G Cd28 Cd28 molecule IMP RGD PMID:12750179 RGD:2307205 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO RGD PMID:12522253 RGD:11251731 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Ednrb endothelin receptor type B IAGP RGD PMID:22975636 RGD:7207471 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:22975636 RGD:7207471
G Fcgr2a Fc fragment of IgG receptor IIa susceptibility ISO associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.R131H (human) RGD PMID:17596285 RGD:5508454 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa susceptibility ISO associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human) RGD PMID:17596285 RGD:5508454 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Gimap5 GTPase, IMAP family member 5 IAGP DNA:frameshift deletion RGD PMID:12097339 RGD:619544 NCBI chr 4:78,377,228...78,386,683
Ensembl chr 4:78,378,144...78,385,577
JBrowse link
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO IL2RA/CD25 Deficiency, OMIM:606367 RGD PMID:9096364 RGD:1600117 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Il7 interleukin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17151827 NCBI chr 2:96,427,884...96,474,979
Ensembl chr 2:96,439,286...96,474,977
JBrowse link
G Lbr lamin B receptor ISO DNA:point mutation RGD PMID:22105998 RGD:11062006 NCBI chr13:100,431,390...100,450,209 JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Lymphocytopenia ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID:22857948 PMID:23233322 PMID:23283745 PMID:24033266 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:28138913 PMID:28420666 PMID:28492532 PMID:28615295 PMID:28790153 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Mysm1 myb-like, SWIRM and MPN domains 1 ISO RGD PMID:22184403 RGD:9589161 NCBI chr 5:113,902,115...113,939,083
Ensembl chr 5:113,906,803...113,939,127
JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Lymphocytopenia ClinVar PMID:25741868 PMID:28089114 PMID:28492532 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 1:167,213,866...167,308,851
Ensembl chr 1:167,213,866...167,308,851
JBrowse link
G Tnf tumor necrosis factor ISO associated with HIV Infections;protein:increased expression:serum RGD PMID:2324681 RGD:10450888 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 IEP mRNA, protein:increased expression:thymus RGD PMID:10433093 RGD:2306005 NCBI chr 9:9,617,551...9,675,167
Ensembl chr 9:9,617,786...9,675,110
JBrowse link
MALT lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl10 BCL10, immune signaling adaptor ISO ClinVar Annotator: match by term: MALT lymphoma ClinVar
OMIM
PMID:9989495 PMID:10380920 PMID:10408400 NCBI chr 2:251,805,392...251,814,957
Ensembl chr 2:251,805,392...251,814,957
JBrowse link
mantle cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23676220 NCBI chr 3:11,652,143...11,659,135 JBrowse link
G Arhgap29 Rho GTPase activating protein 29 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17488656 NCBI chr 2:225,552,075...225,613,349
Ensembl chr 2:225,552,148...225,613,359
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Mantle cell lymphoma, UMLS MESH term: Lymphoma, Lymphocytic, Diffuse, Intermediate Differentiated
ClinVar Annotator: match by term: Mantle cell lymphoma, somatic
ClinVar PMID:10706620 PMID:28492532 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Btk Bruton tyrosine kinase treatment ISO RGD PMID:23045577 RGD:11040699 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
JBrowse link
G Ccdc50 coiled-coil domain containing 50 ISO RGD PMID:19641524 RGD:9685139 NCBI chr11:76,742,179...76,804,695
Ensembl chr11:76,747,865...76,804,510
JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:bone marrow, peripheral blood (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:22383795 PMID:26174628, PMID:24060591 RGD:11352827 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Cd79b CD79b molecule ISO protein:decreased expression:blood, B cell (human) RGD PMID:10329919 RGD:11531139 NCBI chr10:94,497,445...94,500,591
Ensembl chr10:94,497,448...94,500,591
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18787224 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Eif4e eukaryotic translation initiation factor 4E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17148679 NCBI chr 2:243,819,616...243,853,987
Ensembl chr 2:243,820,661...243,852,631
JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17148679 NCBI chr16:68,954,860...68,968,248
Ensembl chr16:68,954,875...68,968,248
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18787224 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17148679 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23676220 NCBI chr 5:166,602,053...166,628,028
Ensembl chr 5:166,602,053...166,628,028
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO protein:increased expression:mononuclear cell (human) RGD PMID:16620968 RGD:11535021 NCBI chr  X:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 ISO ClinVar Annotator: match by term: Mantle cell lymphoma ClinVar PMID:10706620 NCBI chr 8:57,983,168...58,012,474
Ensembl chr 8:57,983,556...58,011,962
JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b susceptibility ISO DNA:missense mutation:cds:p.E228A (c.683A>C) (human)
DNA:SNP:exon:626C>G, 1322A>G (human)
RGD PMID:16217763, PMID:15531454 RGD:11038717, RGD:11038718 NCBI chr15:51,433,853...51,464,215 JBrowse link
G Wnt10a Wnt family member 10A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18787224 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
JBrowse link
G Wnt3 Wnt family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18787224 NCBI chr10:91,830,709...91,874,907
Ensembl chr10:91,830,654...91,874,793
JBrowse link
marginal zone B-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl10 BCL10, immune signaling adaptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:251,805,392...251,814,957
Ensembl chr 2:251,805,392...251,814,957
JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor disease_progression ISO RGD PMID:15231650 RGD:1581305 NCBI chr14:3,058,035...3,073,332
Ensembl chr14:3,058,993...3,068,371
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQA1*0103 (human) RGD PMID:16234023 RGD:5147794 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQB1*0601 (human) RGD PMID:16234023 RGD:5147794 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Tp53 tumor protein p53 ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
mast-cell leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Mast cell leukemia ClinVar PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 PMID:11380399 PMID:11493470 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16912224 PMID:17259998 PMID:18024392 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19865100 PMID:21689725 PMID:22504184 PMID:23582185 PMID:23714533 PMID:24045550 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
mastocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxf1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18421012 NCBI chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086
JBrowse link
G Il13 interleukin 13 ISO DNA:SNP:promoter:-1112C>T (rs1800925) (human) RGD PMID:19178408 RGD:8549523 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il4r interleukin 4 receptor ISO RGD PMID:23149659 RGD:7829822 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Il5ra interleukin 5 receptor subunit alpha ISO RGD PMID:21762978 RGD:11354970 NCBI chr 4:138,796,165...138,834,164
Ensembl chr 4:138,795,327...138,830,117
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Mastocytosis
ClinVar Annotator: match by term: Mastocytosis, sporadic, childhood-onset
associated with Hematologic Diseases;mRNA:increased expression:peripheral blood mononuclear cell:
ClinVar Annotator: match by OMIM:154800
ClinVar
OMIM
PMID:7529964 PMID:8589724 PMID:11380399 PMID:15790786 PMID:16081693 PMID:16307017 PMID:17065430 PMID:17525721 PMID:20140688 PMID:20205869 PMID:20339585 PMID:20890793 PMID:22703879 PMID:23020152 PMID:23593539 PMID:24205792 PMID:24728327 PMID:25079768 PMID:25157968 PMID:25176472 PMID:25637381 PMID:25741868 PMID:25975190 PMID:26158763 PMID:27023146 PMID:27214377 PMID:27258816 PMID:28492532 PMID:31775759, PMID:9029028, PMID:9519779 RGD:1600046, RGD:12910724 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
Monoclonal B-Cell Lymphocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amz2 archaelysin family metallopeptidase 2 ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar NCBI chr10:97,710,905...97,721,442
Ensembl chr10:97,710,905...97,721,440
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar PMID:28492532 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Dazap1 DAZ associated protein 1 ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar NCBI chr 7:12,289,895...12,315,897
Ensembl chr 7:12,290,402...12,311,149
JBrowse link
G Fcnb ficolin B ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar NCBI chr 3:6,617,816...6,626,193
Ensembl chr 3:6,617,751...6,626,284
JBrowse link
G Klhl6 kelch-like family member 6 ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar NCBI chr11:84,745,958...84,785,315
Ensembl chr11:84,745,904...84,785,893
JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar PMID:8755249 PMID:21378985 PMID:21378989 PMID:22891273 PMID:22891276 PMID:27312922 PMID:28492532 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
JBrowse link
G Rapgef1 Rap guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar NCBI chr 3:8,189,594...8,307,077
Ensembl chr 3:8,192,575...8,304,976
JBrowse link
G Sec14l1 SEC14-like lipid binding 1 ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar NCBI chr10:106,065,712...106,112,859
Ensembl chr10:106,065,712...106,112,857
JBrowse link
G Slc35a5 solute carrier family 35, member A5 ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar NCBI chr11:60,613,865...60,634,849
Ensembl chr11:60,613,882...60,634,851
JBrowse link
G Sp4 Sp4 transcription factor ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar NCBI chr 6:146,135,877...146,201,344
Ensembl chr 6:146,135,877...146,195,819
JBrowse link
G Tmed9 transmembrane p24 trafficking protein 9 ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar NCBI chr17:9,560,735...9,565,249
Ensembl chr17:9,560,761...9,565,249
JBrowse link
G Vmp1 vacuole membrane protein 1 ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar NCBI chr10:73,901,988...74,001,900
Ensembl chr10:73,902,837...74,001,895
JBrowse link
monoclonal gammopathy of uncertain significance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:microsatellite polymorphism:exon: : RGD PMID:11167807 RGD:11352247 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Nefh neurofilament heavy ISO associated with Peripheral Nervous System Diseases RGD PMID:12536221 RGD:9693726 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
Monocyte Esterase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ces1d carboxylesterase 1D ISO ClinVar Annotator: match by term: DRUG METABOLISM, ALTERED, CES1-RELATED OMIM
ClinVar
PMID:18485328 PMID:23111421 PMID:26817948 PMID:27614009 NCBI chr19:15,195,514...15,239,827
Ensembl chr19:15,033,108...15,239,821
JBrowse link
Monocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tet2 tet methylcytosine dioxygenase 2 ISO RGD PMID:24218139 RGD:11038772 NCBI chr 2:238,719,389...238,802,975
Ensembl chr 2:238,720,835...238,803,024
JBrowse link
multiple myeloma 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 treatment ISO RGD PMID:26314844, PMID:16917002 RGD:11081075, RGD:11081144 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Ace angiotensin I converting enzyme ISO protein:increased activity:serum RGD PMID:22345095 RGD:11038914 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17096887 RGD:11035276 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Apoe apolipoprotein E treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Arid4a AT-rich interaction domain 4A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:93,461,713...93,532,901
Ensembl chr 6:93,461,713...93,532,901
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Aurka aurora kinase A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:170,364,177...170,380,278
Ensembl chr 3:170,364,181...170,378,210
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:26619011 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 9:78,297,723...78,368,777
Ensembl chr 9:78,294,834...78,369,031
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644, PMID:14656874 RGD:11353847 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Bcl2l10 BCL2 like 10 ISO protein:increased expression:bone marrow : RGD PMID:27455953 RGD:14392808 NCBI chr 8:82,288,705...82,294,750
Ensembl chr 8:82,288,705...82,294,744
JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:135,187,468...135,233,859
Ensembl chr  X:135,187,468...135,233,839
JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18172295 NCBI chr 1:211,248,098...211,265,282
Ensembl chr 1:211,248,098...211,265,282
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Multiple myeloma
ClinVar Annotator: match by term: Myelomatosis
ClinVar PMID:2493360 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:16825433 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17603483 PMID:17785355 PMID:18039235 PMID:18042262 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18413255 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19376813 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19913317 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21784453 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23715574 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24446311 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28492532 PMID:28854169 PMID:28891408 PMID:29595366 PMID:29925953 PMID:31779674 PMID:31891627 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Btg1 BTG anti-proliferation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16918137 NCBI chr 7:37,812,831...37,815,088
Ensembl chr 7:37,812,831...37,815,088
JBrowse link
G Cbl Cbl proto-oncogene ISO mRNA:decreased expression:mononuclear cell: RGD PMID:23948411 RGD:11038794 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Cbx7 chromobox 7 susceptibility ISO DNA:snp:intron:c.113+3502C>T (human) (rs877529)
CTD Direct Evidence: marker/mechanism
CTD PMID:23955597, PMID:23955597 RGD:11352716 NCBI chr 7:121,136,067...121,153,503
Ensembl chr 7:121,136,058...121,153,383
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16918137 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccnd1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: Multiple myeloma, translocation 11,14 type
CTD Direct Evidence: marker/mechanism
DNA:snp:exon:c.870G>A (rs603965) (human)
ClinVar
CTD
OMIM
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244, PMID:15755896, PMID:23502783 RGD:1581171, RGD:11353784 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Ccnd2 cyclin D2 ISO RGD PMID:15755896 RGD:1581171 NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
JBrowse link
G Ccnd3 cyclin D3 ISO RGD PMID:15755896 RGD:1581171 NCBI chr 9:15,404,816...15,410,905
Ensembl chr 9:15,404,822...15,410,943
JBrowse link
G Cd40 CD40 molecule treatment ISO human cells in a mouse model RGD PMID:10866315 RGD:11522720 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand treatment
disease_progression
ISO protein:increased expression:serum (human) RGD PMID:15565183, PMID:27243341, PMID:22403003 RGD:11352240, RGD:11352268, RGD:11352251 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:plasma cell (human) RGD PMID:16728275 RGD:11352814 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cd86 CD86 molecule severity ISO protein:increased expression:bone marrow, plasma cell (human)
CTD Direct Evidence: marker/mechanism
CTD