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: chronic lymphocytic leukemia
Accession: DOID:1040
browse the term
Definition: A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood. (DO)
Synonyms: exact_synonym: B-cell chronic lymphocytic leukaemia; CLL; chronic lymphatic leukaemia; chronic lymphatic leukemia; chronic lymphocytic leukaemia; chronic lymphoid leukemia; lymphoplasmacytic leukaemia; lymphoplasmacytic leukemia
related_synonym: B-cell chronic lymphoid leukemia
xref: EFO:0000095 ; EFO:0000169 ; GARD:6104 ; ICD10CM:C91.10 ; ICD9CM:204.1 ; NCI:C3163 ; ORDO:67038
For additional species annotation, visit the
Alliance of Genome Resources .
G
Ak3
adenylate kinase 3
ISO
protein:increased expression:peripheral blood mononuclear cell
RGD
PMID:27078856
RGD:13842476
NCBI chr 1:226,737,472...226,764,647
Ensembl chr 1:226,739,318...226,764,625
G
Arhgap44
Rho GTPase activating protein 44
ISO
mRNA:increased expression: (human)
RGD
PMID:36595475
RGD:401901275
NCBI chr10:49,655,583...49,822,876
Ensembl chr10:49,655,584...49,824,297
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:serum (human)
RGD
PMID:9450802
RGD:11522717
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
G
Cd79b
CD79b molecule
ISO
protein:decreased expression:peripheral blood cells (human) mRNA, protein:splice variants, alternative forms:exon 3 (human) protein:decreased expression:blood, B cell (human) protein:decreased expression:blood cells (human)
RGD
PMID:10516749 PMID:10090943 PMID:10329919 PMID:10753858
RGD:151665125 , RGD:151665190 , RGD:11531139 , RGD:151665152
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
G
Cd86
CD86 molecule
ISO
DNA:hypermethylation (human)
RGD
PMID:23154584
RGD:11354975
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
G
Il5
interleukin 5
ISO
protein:increased expression:serum
RGD
PMID:21911837
RGD:11354912
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
G
Irf4
interferon regulatory factor 4
disease_progression
ISO
DNA:SNPs:3' utr:multiple DNA:SNP: :rs872071 (human) DNA:missense mutation:exon:p.L116R (human)
RGD
PMID:23897826 PMID:20123861 PMID:20731705 PMID:23926303 PMID:20090783 PMID:21791429 More...
RGD:11526156 , RGD:11530031 , RGD:11530029 , RGD:11530026 , RGD:11530021 , RGD:11526158
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
G
Mir155
microRNA 155
ISO
miRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:29658610
RGD:21081544
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
G
Mir21
microRNA 21
ISO
miRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:29658610
RGD:21081544
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
G
Myc
MYC proto-oncogene, bHLH transcription factor
disease_progression
ISO
RGD
PMID:20956327
RGD:11340590
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
G
Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:26254371
RGD:11073982
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
G
Ptpn22
protein tyrosine phosphatase, non-receptor type 22
susceptibility
ISO
DNA:snp:cds:p.R620W (rs2476601) (human) protein:increased expression:B cell (human)
RGD
PMID:23287625 PMID:22569400
RGD:11533998 , RGD:11535006
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
G
Stat3
signal transducer and activator of transcription 3
ISO
protein:increased phosphorylation:peripheral blood mononuclear cell
RGD
PMID:29658610
RGD:21081544
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
G
Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:8118819 PMID:9242456 PMID:9662334 PMID:10432928 PMID:10589545 PMID:10922393 PMID:11139324 PMID:11782540 PMID:12826609 PMID:15037740 PMID:16818505 PMID:17015838 PMID:17606709 PMID:18307025 PMID:19101993 PMID:20028212 PMID:20128691 PMID:20407015 PMID:20593220 PMID:20805372 PMID:21118481 PMID:21343334 PMID:21356188 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22822097 PMID:22869713 PMID:22915647 PMID:22923379 PMID:23246812 PMID:23484829 PMID:23630318 PMID:24065105 PMID:24573247 PMID:24702488 PMID:25256166 PMID:25404506 PMID:25741868 PMID:25765855 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27714481 PMID:27895058 PMID:27959731 PMID:28492532 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30816478 PMID:33300245 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Abcg2
ATP binding cassette subfamily G member 2
susceptibility
ISO
DNA:SNPs,haplotype: :rs1481012,rs2231142(human)
RGD
PMID:21918980
RGD:11080977
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
G
Acoxl
acyl-CoA oxidase-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 3:115,061,069...115,367,032
Ensembl chr 3:115,061,060...115,364,686
G
Aicda
activation-induced cytidine deaminase
disease_progression
ISO
RGD
PMID:21133730
RGD:11039455
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
G
Apoe
apolipoprotein E
disease_progression
ISO
RGD
PMID:18784741
RGD:11040549
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17968022
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
Bcl11a
BCL11 transcription factor A
ISO
DNA:translocation:5' utr: (human)
RGD
PMID:11719382
RGD:11100004
NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
G
Bcl2
BCL2, apoptosis regulator
treatment severity no_association
ISO
DNA:snp:promoter:g.-938C>A (human) protein:increased expression:B cell (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21750559 PMID:23770605 PMID:17296974 PMID:16960146 PMID:17959858 PMID:20001236 More...
RGD:11522735 , RGD:11526104 , RGD:11526105 , RGD:11526110
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
G
Bmf
Bcl2 modifying factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 3:105,499,534...105,520,159
Ensembl chr 3:105,499,538...105,520,145
G
Btk
Bruton tyrosine kinase
treatment
ISO
RGD
PMID:23045577
RGD:11040699
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
G
Cbl
Cbl proto-oncogene
severity
ISO
mRNA,protein:increased expression:CD5+ B cell: DNA:hypophosphorylation:CD5+ B cell:
RGD
PMID:17804547 PMID:17804547
RGD:11038803 , RGD:11038803
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
G
Ccdc50
coiled-coil domain containing 50
ISO
RGD
PMID:19641524
RGD:9685139
NCBI chr11:73,332,798...73,395,333
Ensembl chr11:73,334,248...73,395,150
G
Cd40
CD40 molecule
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
G
Cd40lg
CD40 ligand
ISO
mouse-human chimeric gene in human
RGD
PMID:20882050
RGD:11352235
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
G
Cd5
Cd5 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr 1:207,365,337...207,386,313
Ensembl chr 1:207,365,337...207,386,313
G
Cd79b
CD79b molecule
ISO
protein:decreased expression:B lymphocyte, cell surface (human) mRNA, protein:splice variants, alternative forms:exon 3 (human) DNA:polymorphism:multiple (human)
RGD
PMID:9269755 PMID:10090943 PMID:10552962
RGD:11250403 , RGD:151665190 , RGD:151665202
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
G
Cd86
CD86 molecule
severity
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:25179679
RGD:11354969
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
G
Cpeb1
cytoplasmic polyadenylation element binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062064
NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
protein:increased expression:T cell
RGD
PMID:16094420 PMID:15914560
RGD:11344923 , RGD:11352246
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
G
Dkc1
dyskerin pseudouridine synthase 1
ISO
RGD
PMID:18077792
RGD:11251735
G
Dnmt3b
DNA methyltransferase 3 beta
ISO
mRNA:decreased expression: B cell
RGD
PMID:15467427
RGD:9589146
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
G
Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
severity
ISO
DNA:SNP: :p.K751Q (rs13181) (human)
RGD
PMID:22739018 PMID:19484764
RGD:11252203 , RGD:11252204
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
G
Farp2
FERM, ARH/RhoGEF and pleckstrin domain protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062064
NCBI chr 9:94,053,650...94,161,982
Ensembl chr 9:94,053,726...94,162,212
G
Fas
Fas cell surface death receptor
disease_progression
ISO
RGD
PMID:12901972
RGD:11049461
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Fcgr3a
Fc gamma receptor 3A
no_association
ISO
DNA:SNP:exon:p.F158V (rs396991) (human)
RGD
PMID:14563637
RGD:11352260
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
G
Gnas
GNAS complex locus
disease_progression
ISO
DNA:polymorphism:393T>C (human)
RGD
PMID:17020971
RGD:1601379
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
G
Icam1
intercellular adhesion molecule 1
severity
ISO
RGD
PMID:7658704
RGD:11354983
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Ifng
interferon gamma
susceptibility
ISO
DNA:polymorphism: :847A>T(human)
RGD
PMID:19757192
RGD:10755703
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Il10
interleukin 10
disease_progression no_association
ISO
DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human) DNA:SNPs: :multiple protein:increased expression:serum
RGD
PMID:22945689 PMID:19573080 PMID:19573080 PMID:10638947
RGD:11041895 , RGD:11049165 , RGD:11049165 , RGD:11049174
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il19
interleukin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
G
Il1a
interleukin 1 alpha
ISO
RGD
PMID:19074885
RGD:11051968
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
G
Il1b
interleukin 1 beta
severity
ISO
DNA:SNP:promoter:-511C>T (human) protein:decreased expression:plasma:
RGD
PMID:18271063 PMID:10870116
RGD:11051967 , RGD:11522755
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rn
interleukin 1 receptor antagonist
ISO
protein:decreased expression:plasma:
RGD
PMID:10870116
RGD:11522755
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il6
interleukin 6
ISO
protein:increased expression:plasma: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18006695 PMID:10870116
RGD:11522755
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Irf4
interferon regulatory factor 4
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18758461 PMID:12393648 PMID:12079517
RGD:11526160 , RGD:11530024
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
G
Itga4
integrin subunit alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21093051
NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
G
Lef1
lymphoid enhancer binding factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794
G
Mir143
microRNA 143
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17892514
NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
G
Mir145
microRNA 145
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17892514
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
G
Ms4a1
membrane spanning 4-domains A1
ISO
RGD
PMID:19911856
RGD:2316994
NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
G
Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16706930
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
P2rx7
purinergic receptor P2X 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11003599
NCBI chr12:33,889,709...33,934,168
Ensembl chr12:33,879,745...33,934,619
G
Pecam1
platelet and endothelial cell adhesion molecule 1
severity
ISO
protein:increased expression:B cell (human)
RGD
PMID:12673718
RGD:11541127
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
G
Plcg2
phospholipase C, gamma 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27542411
NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
G
Pmaip1
phorbol-12-myristate-13-acetate-induced protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr18:59,986,020...59,992,434
Ensembl chr18:59,986,017...59,992,429
G
Polb
DNA polymerase beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr16:69,379,438...69,402,710
Ensembl chr16:69,379,400...69,404,812
G
Ppp2r5c
protein phosphatase 2, regulatory subunit B', gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16038780
NCBI chr 6:129,461,689...129,598,344
Ensembl chr 6:129,461,648...129,598,346
G
Pramex1
PRAME like, X-linked 1
ISO
protein:increased expression:mononuclear cell (human)
RGD
PMID:16620968
RGD:11535021
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
G
Prkd2
protein kinase D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18758461
NCBI chr 1:77,513,625...77,542,386
Ensembl chr 1:77,513,986...77,542,376
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16314473
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
G
Qpct
glutaminyl-peptide cyclotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 6:15,964,656...15,996,730
Ensembl chr 6:15,964,657...15,996,711
G
Rbl2
RB transcriptional corepressor like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16038780
NCBI chr19:15,876,852...15,923,632
Ensembl chr19:15,876,853...15,923,572
G
Sf3b1
splicing factor 3b, subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158541
NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
G
Sp140
SP140 nuclear body protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18758461
NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542
G
Tert
telomerase reverse transcriptase
disease_progression
ISO
RGD
PMID:17344921
RGD:11038662
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
G
Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16904380
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
G
Thbd
thrombomodulin
ISO
RGD
PMID:21812019
RGD:5685033
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
G
Tnf
tumor necrosis factor
disease_progression
ISO
protein:increased expression:bone marrow, blood, lymphocyte
RGD
PMID:12010662 PMID:22945689
RGD:10449463 , RGD:11041895
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tnfrsf10b
TNF receptor superfamily member 10b
susceptibility
ISO
DNA:missense mutation:cds:p.E228A (c.683A>C) (human) DNA:SNP: :1322A>G (human)
RGD
PMID:16217763 PMID:15531454
RGD:11038717 , RGD:11038718
NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
G
Tnfrsf11a
TNF receptor superfamily member 11A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16270354
NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
G
Tnfsf11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16270354
NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445
G
Tnfsf13
TNF superfamily member 13
ISO
protein:increased expression:serum
RGD
PMID:15488762
RGD:1549466
NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
G
Topbp1
DNA topoisomerase II binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674
G
Tp53
tumor protein p53
disease_progression
ISO
DNA:deletion: : CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
CTD ClinVar RGD
PMID:8118819 PMID:9242456 PMID:9662334 PMID:10432928 PMID:10589545 PMID:10922393 PMID:11139324 PMID:11782540 PMID:12826609 PMID:15037740 PMID:16439677 PMID:16818505 PMID:17015838 PMID:17606709 PMID:18307025 PMID:19101993 PMID:20028212 PMID:20128691 PMID:20407015 PMID:20593220 PMID:20805372 PMID:21118481 PMID:21343334 PMID:21356188 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22822097 PMID:22869713 PMID:22915647 PMID:22923379 PMID:23246812 PMID:23484829 PMID:23630318 PMID:24065105 PMID:24573247 PMID:24702488 PMID:25256166 PMID:25404506 PMID:25741868 PMID:25765855 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27714481 PMID:27895058 PMID:27959731 PMID:28492532 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30816478 PMID:33300245 PMID:36988593 PMID:10867151 More...
RGD:11075074
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Vdr
vitamin D receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12446453
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
G
Xrcc1
X-ray repair cross complementing 1
severity no_association
ISO
DNA:SNP: :p.R399Q (rs25487) (human) DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human)
RGD
PMID:19484764 PMID:19484764
RGD:11252204 , RGD:11252204
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
G
Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:8843970
RGD:11353776
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
G
Il1rn
interleukin 1 receptor antagonist
treatment
ISO
RGD
PMID:9613675
RGD:11522762
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Map2k1
mitogen activated protein kinase kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24241536
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
G
Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916 PMID:29200404
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
G
Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: T-cell prolymphocytic leukemia
ClinVar
PMID:6504056 PMID:7792600 PMID:8755918 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:9150358 PMID:9288106 PMID:9334731 PMID:9443866 PMID:9463314 PMID:9537233 PMID:9892178 PMID:10817650 PMID:11382771 PMID:11805335 PMID:11830610 PMID:12072552 PMID:12195425 PMID:12552559 PMID:12969974 PMID:14562025 PMID:16652348 PMID:16832357 PMID:16958054 PMID:17001622 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19781682 PMID:20301790 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21933854 PMID:22529920 PMID:22585167 PMID:22649200 PMID:23807571 PMID:24088041 PMID:24733792 PMID:25186627 PMID:25614872 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26506520 PMID:26556299 PMID:26633545 PMID:26662178 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27884168 PMID:27978560 PMID:27988859 PMID:27989354 PMID:28492532 PMID:28779002 PMID:28873162 PMID:29719442 PMID:29915382 PMID:30549301 PMID:31447099 PMID:31948886 PMID:32338768 PMID:32427313 PMID:32748564 PMID:32853339 PMID:33436325 PMID:33439686 PMID:33471991 PMID:33509806 PMID:34117267 More...
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
C8h11orf65
similar to human chromosome 11 open reading frame 65
ISO
ClinVar Annotator: match by term: T-cell prolymphocytic leukemia
ClinVar
PMID:6504056 PMID:7792600 PMID:8755918 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:9150358 PMID:9288106 PMID:9443866 PMID:9463314 PMID:9537233 PMID:9892178 PMID:10817650 PMID:11382771 PMID:11805335 PMID:11830610 PMID:12072552 PMID:12195425 PMID:12552559 PMID:12969974 PMID:14562025 PMID:16652348 PMID:16832357 PMID:16958054 PMID:17001622 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19781682 PMID:20301790 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21933854 PMID:22529920 PMID:22585167 PMID:22649200 PMID:24088041 PMID:24733792 PMID:25186627 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26506520 PMID:26556299 PMID:26633545 PMID:26662178 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27884168 PMID:27978560 PMID:27988859 PMID:27989354 PMID:28492532 PMID:28779002 PMID:28873162 PMID:29719442 PMID:29915382 PMID:30549301 PMID:31447099 PMID:31948886 PMID:32338768 PMID:32427313 PMID:32748564 PMID:32853339 PMID:33436325 PMID:33439686 PMID:33471991 PMID:33509806 PMID:34117267 More...
NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
G
Jak3
Janus kinase 3
ISO
DNA:missense mutations:exon:pM511I, p.R657Q (human)
RGD
PMID:24446122
RGD:11531125
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
G
Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all