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: | lymphatic system disease |
|
Accession: | DOID:75
|
browse the term
|
Definition: | Diseases of LYMPH; LYMPH NODES; or LYMPHATIC VESSELS. |
Synonyms: | exact_synonym: | Lymphatic Disease; Lymphatic Diseases; Lymphatism; disease of lympoid system; disorder of lymph node and lymphatics; disorder of lymphatic system; disorder of lymphoid system; lymphangiopathy; lymphatic disorder; lympoid system disease; status lymphaticus |
| primary_id: | MESH:D008206 |
| alt_id: | RDO:0006036 |
For additional species annotation, visit the
Alliance of Genome Resources.
|
|
|
|
G |
Lgmn |
legumain |
|
ISS |
|
MouseDO |
|
|
NCBI chr 6:126,282,246...126,308,207
Ensembl chr 6:126,282,233...126,320,726
|
|
|
G |
Fgf8 |
fibroblast growth factor 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12223415 |
|
NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
|
|
G |
Six1 |
SIX homeobox 1 |
|
ISO |
|
RGD |
PMID:21364285 |
RGD:11561941 |
NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
|
|
|
G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
|
ISO |
ClinVar Annotator: match by term: Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified |
ClinVar |
PMID:7585650 PMID:9195225 PMID:22234153 PMID:23221806 PMID:23232694 PMID:24728327 PMID:25716912 PMID:25741868 |
|
NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
|
|
|
G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
susceptibility |
ISO |
DNA:snps, haplotype:multiple (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22674224, PMID:22674224 |
RGD:8657089 |
NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
|
|
G |
Abcc2 |
ATP binding cassette subfamily C member 2 |
treatment |
ISO |
DNA:SNP:5'UTR:rs717620(human) DNA:SNPs: :rs717620(human) |
RGD |
PMID:24404132, PMID:25007187 |
RGD:11080959, RGD:11080979 |
NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
|
|
G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
disease_progression |
ISO |
mRNA:increased expression:mononuclear cell: |
RGD |
PMID:15521915, PMID:12100141 |
RGD:11081076, RGD:11081143 |
NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
|
|
G |
Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11984797 PMID:21898527 |
|
NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
|
|
G |
Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
susceptibility |
ISO |
|
RGD |
PMID:17065136 |
RGD:11100012 |
NCBI chr 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
|
|
G |
Aicda |
activation-induced cytidine deaminase |
treatment |
ISO |
|
RGD |
PMID:19759560 |
RGD:11039451 |
NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
|
|
G |
Arid5b |
AT-rich interaction domain 5B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19684603 PMID:19684604 |
|
NCBI chr20:21,713,900...21,881,193
Ensembl chr20:21,564,975...21,880,715
|
|
G |
Arnt |
aryl hydrocarbon receptor nuclear translocator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22674224 |
|
NCBI chr 2:196,594,178...196,651,486
Ensembl chr 2:196,594,303...196,651,179
|
|
G |
Bax |
BCL2 associated X, apoptosis regulator |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
|
|
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
|
|
G |
Bcl2 |
BCL2, apoptosis regulator |
severity |
ISO |
mRNA:increased expression:bone marrow (human) |
RGD |
PMID:25982455 |
RGD:11076595 |
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
|
|
G |
Bcl2l1 |
Bcl2-like 1 |
treatment |
ISO |
mRNA:increased expression:blood, mononuclear cell (human) |
RGD |
PMID:12469194, PMID:19020783 |
RGD:11353852, RGD:11353866 |
NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
|
|
G |
Bcr |
BCR activator of RhoGEF and GTPase |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
|
|
NCBI chr20:14,421,250...14,546,406
Ensembl chr20:14,421,141...14,545,772
|
|
G |
Casp8 |
caspase 8 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22010212 |
|
NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
|
|
G |
Cast |
calpastatin |
|
ISO |
protein:increased expresssion:B cell |
RGD |
PMID:11264179 |
RGD:5509822 |
NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
|
|
G |
Ccnd1 |
cyclin D1 |
|
ISO |
mRNA:increased expression:bone marrow (human) |
RGD |
PMID:22391157 |
RGD:11352824 |
NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
|
|
G |
Cd40lg |
CD40 ligand |
|
ISO |
|
RGD |
PMID:9292526 |
RGD:11352271 |
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
|
|
G |
Cd46 |
CD46 molecule |
|
ISO |
protein:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:16353080 |
RGD:11352810 |
NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
|
|
G |
Cd79b |
CD79b molecule |
|
ISO |
protein:decreased expression:bone marrow, mononuclear cell (human) |
RGD |
PMID:21487112 |
RGD:11250414 |
NCBI chr10:94,497,445...94,500,591
Ensembl chr10:94,497,448...94,500,591
|
|
G |
Cd86 |
CD86 molecule |
severity |
ISO |
protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human) |
RGD |
PMID:24283754 |
RGD:11354967 |
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
|
|
G |
Cdk6 |
cyclin-dependent kinase 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24736461 |
|
NCBI chr 4:27,781,728...27,969,653
Ensembl chr 4:27,785,647...27,966,398
|
|
G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
disease_progression susceptibility no_association |
ISO |
DNA:deletion: : CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds: |
CTD |
PMID:20453839, PMID:10090949, PMID:26104880, PMID:25675863, PMID:9204978 |
RGD:11251764, RGD:11057958, RGD:11252082, RGD:11252081 |
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
|
|
G |
Cdkn2a_v1 |
cyclin-dependent kinase inhibitor 2A, variant 1 |
disease_progression |
ISO |
|
RGD |
PMID:25675863 |
RGD:11252082 |
|
|
G |
Cebpe |
CCAAT/enhancer binding protein epsilon |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19684604 |
|
NCBI chr15:33,356,119...33,357,517
Ensembl chr15:33,355,947...33,358,138
|
|
G |
Cfb |
complement factor B |
|
ISO |
DNA:missense mutation:p.R32Q b(human) |
RGD |
PMID:6958349 |
RGD:11041155 |
NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066 Ensembl chr20:4,536,203...4,561,066
|
|
G |
Crebbp |
CREB binding protein |
disease_progression |
ISO |
DNA:mutations:multiple |
RGD |
PMID:25917266 |
RGD:11060149 |
NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
|
|
G |
Crlf2 |
cytokine receptor-like factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19838194 |
|
NCBI chr14:1,456,843...1,461,543
Ensembl chr14:1,456,844...1,461,543
|
|
G |
Csf3 |
colony stimulating factor 3 |
treatment |
ISO |
|
RGD |
PMID:9250830 |
RGD:11039038 |
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
|
|
G |
Cspg4 |
chondroitin sulfate proteoglycan 4 |
severity |
ISO |
|
RGD |
PMID:8562939 |
RGD:734840 |
NCBI chr 8:61,532,465...61,567,510
Ensembl chr 8:61,532,465...61,567,510
|
|
G |
Cyba |
cytochrome b-245 alpha chain |
|
ISO |
mRNA:increased expression:peripheral blood mononuclear cell: |
RGD |
PMID:19222940 |
RGD:11040545 |
NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
|
|
G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
susceptibility no_association |
ISO |
DNA:polymorphism:3"UTR:rs4646903(human) DNA:polymorphism:3'UTR:3801T>C(human) DNA:polymorphism:cds:2452C>A(p.T461N)(human) |
RGD |
PMID:22964275, PMID:16676594, PMID:23725389 |
RGD:11352714, RGD:11352728, RGD:11352725 |
NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
|
|
G |
Cyp1a2 |
cytochrome P450, family 1, subfamily a, polypeptide 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22674224 |
|
NCBI chr 8:62,451,360...62,458,244
Ensembl chr 8:62,451,329...62,458,301
|
|
G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22674224 |
|
NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
|
|
G |
Cyp2c79 |
cytochrome P450, family 2, subfamily c, polypeptide 79 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22674224 |
|
NCBI chr 1:147,236,480...147,307,988
|
|
G |
Cyp2d4 |
cytochrome P450, family 2, subfamily d, polypeptide 4 |
susceptibility |
ISO |
DNA:polymorphisms: : DNA:SNP,deletion:splice junction,exon:1934G>A (human) |
RGD |
PMID:11037802, PMID:19593802 |
RGD:11352820, RGD:11252111 |
NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
|
|
G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11774269 |
|
NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
|
|
G |
Cyp3a9 |
cytochrome P450, family 3, subfamily a, polypeptide 9 |
disease_progression susceptibility |
ISO |
DNA:polymorphism: : |
RGD |
PMID:19650988, PMID:22215203 |
RGD:11353796, RGD:11353805 |
NCBI chr12:19,074,288...19,114,491
Ensembl chr12:19,074,583...19,114,399
|
|
G |
Dhfr |
dihydrofolate reductase |
disease_progression |
ISO |
DNA:polymorphisms, haplotype:promoter: DNA:polymorphisms: :-317A>G, 829C>T (human) |
RGD |
PMID:19861437, PMID:12972803, PMID:22969948, PMID:9226157 |
RGD:11039542, RGD:11039545, RGD:11039544, RGD:11039543 |
NCBI chr 2:21,931,887...21,958,927
Ensembl chr 2:21,931,493...21,962,453
|
|
G |
Dnmt3a |
DNA methyltransferase 3 alpha |
treatment |
ISO |
DNA:mutations:exon, intron:p.R882(human) |
RGD |
PMID:25242092 |
RGD:11041125 |
NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
|
|
G |
Dntt |
DNA nucleotidylexotransferase |
|
ISO |
protein:increased activity:peripheral blood,bone marrow: |
RGD |
PMID:7020399 |
RGD:8694149 |
NCBI chr 1:260,289,626...260,321,174
Ensembl chr 1:260,289,589...260,321,320
|
|
G |
Dpyd |
dihydropyrimidine dehydrogenase |
no_association disease_progression |
ISO |
DNA:SNP: :85T>C (human) DNA:SNPs: :2194G>A, 1156G>T (human) DNA:splice-site mutation:intron:IVS14+1G>A (human) |
RGD |
PMID:26846104, PMID:26846104, PMID:26846104 |
RGD:11098453, RGD:11098453, RGD:11098453 |
NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
|
|
G |
Dux4 |
double homeobox 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27776115 |
|
NCBI chr16:3,754,968...3,766,532
Ensembl chr16:3,754,968...3,765,917
|
|
G |
Eng |
endoglin |
disease_progression |
ISO |
|
RGD |
PMID:17572488 |
RGD:11041565 |
NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
|
|
G |
Ephx1 |
epoxide hydrolase 1 |
susceptibility no_association |
ISO |
DNA:missense mutation, haplotype:exon:p.Y113H (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:exon:rs1051740, rs2234922 (human) DNA:polymorphisms:exon DNA:missense mutation, haplotype:exon:p.H139R (human) |
CTD |
PMID:21983886, PMID:21983886, PMID:22200898, PMID:22930568, PMID:19593802, PMID:21983886 |
RGD:11252110, RGD:11252114, RGD:11252113, RGD:11252111, RGD:11252110 |
NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
|
|
G |
Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
susceptibility |
ISO |
DNA:SNPs: :8092C>A, 19007G>A (human) DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human) |
RGD |
PMID:16723154, PMID:16435384 |
RGD:11252160, RGD:11340204 |
NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
|
|
G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
no_association |
ISO |
DNA:missense mutations: :p.D312N, p.K751Q (human) DNA:haplotype |
RGD |
PMID:19101034, PMID:21987080 |
RGD:11252192, RGD:11340201 |
NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
|
|
G |
Erg |
ETS transcription factor ERG |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27776115 |
|
NCBI chr11:35,645,317...35,749,637
Ensembl chr11:35,646,116...35,749,594
|
|
G |
Etv6 |
ETS variant transcription factor 6 |
|
ISO |
ClinVar Annotator: match by term: Acute lymphoid leukemia CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:17255265 |
|
NCBI chr 4:167,754,684...167,992,370
Ensembl chr 4:167,754,525...167,992,168
|
|
G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
|
ISS |
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 |
MouseDO |
|
|
NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
|
|
G |
F3 |
coagulation factor III, tissue factor |
|
ISO |
|
RGD |
PMID:8429686 |
RGD:11340211 |
NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
|
|
G |
Fas |
Fas cell surface death receptor |
disease_progression |
ISO |
protein:increased expression:CD34+ bone marrow cell |
RGD |
PMID:10500800, PMID:9711907 |
RGD:11049148, RGD:11049157 |
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
|
|
G |
Fga |
fibrinogen alpha chain |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:25317080 |
RGD:11040558 |
NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
|
|
G |
Flt3 |
Fms related receptor tyrosine kinase 3 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Acute lymphocytic leukemia CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:11290608 PMID:11442493 PMID:14604974 PMID:14670924 PMID:15256420 PMID:16857985 PMID:17606455 PMID:17889720 PMID:19657110 PMID:20733134 PMID:22368270 PMID:22504183 PMID:22504184 PMID:23261068 PMID:23321257 PMID:23430109 PMID:23714533 PMID:23783394 PMID:24046014 PMID:25157968 |
|
NCBI chr12:9,360,439...9,437,004
Ensembl chr12:9,360,672...9,436,570
|
|
G |
Fpgs |
folylpolyglutamate synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25013492 |
|
NCBI chr 3:11,717,667...11,729,694
Ensembl chr 3:11,717,667...11,723,327
|
|
G |
Gfi1b |
growth factor independent 1B transcriptional repressor |
|
ISO |
mRNA:increased expression:blood: |
RGD |
PMID:19360458 |
RGD:11040460 |
NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
|
|
G |
Gh1 |
growth hormone 1 |
treatment |
ISO |
|
RGD |
PMID:2494952 |
RGD:11352727 |
NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
|
|
G |
Gnb1 |
G protein subunit beta 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute lymphoid leukemia |
OMIM CTD ClinVar |
PMID:25485910 PMID:27108799 |
|
NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
|
|
G |
Gpi |
glucose-6-phosphate isomerase |
|
ISO |
|
RGD |
PMID:6589021 |
RGD:11051848 |
NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
|
|
G |
Gpx1 |
glutathione peroxidase 1 |
treatment |
ISO |
|
RGD |
PMID:17317918, PMID:24698347 |
RGD:11352774, RGD:11352812 |
NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
|
|
G |
Gsr |
glutathione-disulfide reductase |
|
ISO |
|
RGD |
PMID:24191316 |
RGD:11059506 |
NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
|
|
G |
Gstm1 |
glutathione S-transferase mu 1 |
disease_progression susceptibility no_association |
ISO |
|
RGD |
PMID:10666194, PMID:14607752, PMID:12827651, PMID:15738600 |
RGD:10450829, RGD:10755410, RGD:10755409, RGD:10755321 |
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
|
|
G |
Gstp1 |
glutathione S-transferase pi 1 |
disease_progression no_association susceptibility |
ISO |
DNA:haplotype:cds: DNA:polymorphism: :1578 a>G(human) DNA:transition mutation:exon: |
RGD |
PMID:10666194, PMID:23979883, PMID:15738600 |
RGD:10450829, RGD:10755417, RGD:10755321 |
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
|
|
G |
Gstt1 |
glutathione S-transferase theta 1 |
disease_progression susceptibility |
ISO |
|
RGD |
PMID:10666194, PMID:14607752 |
RGD:10450829, RGD:10755410 |
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
|
|
G |
H1f2 |
H1.2 linker histone, cluster member |
susceptibility |
ISO |
DNA:SNP, haplotype:enhancer: (rs807212) (human) |
RGD |
PMID:19806355 |
RGD:10755490 |
NCBI chr17:43,638,938...43,640,445
Ensembl chr17:43,639,749...43,640,387
|
|
G |
Hck |
HCK proto-oncogene, Src family tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17344919 |
|
NCBI chr 3:148,579,917...148,623,026
Ensembl chr 3:148,579,920...148,623,033
|
|
G |
Hdac1 |
histone deacetylase 1 |
disease_progression |
ISO |
mRNA:increased expression:bone marrow,blood: |
RGD |
PMID:23948281 |
RGD:9681454 |
NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
|
|
G |
Hdac2 |
histone deacetylase 2 |
disease_progression |
ISO |
mRNA:increased expression:bone marrow,blood: |
RGD |
PMID:23948281 |
RGD:9681454 |
NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
|
|
G |
Hdac4 |
histone deacetylase 4 |
treatment |
ISO |
|
RGD |
PMID:23948281 |
RGD:9681454 |
NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
|
|
G |
Hfe |
homeostatic iron regulator |
no_association |
ISO |
DNA:missense mutation:cds:p.H63D (human) DNA:missense mutation: :p.H63D (human) DNA:missense mutation:cds:p.C282Y (human) |
RGD |
PMID:10627122, PMID:17107905, PMID:10627122 |
RGD:10755557, RGD:10755558, RGD:10755557 |
NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
|
|
G |
Hk1 |
hexokinase 1 |
|
ISO |
protein:decreased activity:platelet |
RGD |
PMID:21921332 |
RGD:11353881 |
NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
|
|
G |
Hlf |
HLF transcription factor, PAR bZIP family member |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26214592 |
|
NCBI chr10:77,836,352...77,918,656
Ensembl chr10:77,840,568...77,918,191
|
|
G |
Hoxd4 |
homeo box D4 |
|
ISO |
ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:15776434 |
|
NCBI chr 3:61,634,005...61,653,581
Ensembl chr 3:61,634,005...61,651,056
|
|
G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22674224 |
|
NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
|
|
G |
Ifng |
interferon gamma |
susceptibility |
ISO |
DNA:SNP: :rs2069727(human) |
RGD |
PMID:21067287 |
RGD:10755691 |
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
|
|
G |
Ikzf1 |
IKAROS family zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: LEUKEMIA, ACUTE LYMPHOCYTIC, SUSCEPTIBILITY TO, 2 CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:19684604 |
|
NCBI chr14:91,782,281...91,867,828
Ensembl chr14:91,782,354...91,867,424
|
|
G |
Ikzf2 |
IKAROS family zinc finger 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334668 |
|
NCBI chr 9:76,621,230...76,771,017
Ensembl chr 9:76,621,230...76,768,806
|
|
G |
Ikzf3 |
IKAROS family zinc finger 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334668 |
|
NCBI chr10:86,420,757...86,509,454
Ensembl chr10:86,421,582...86,509,454
|
|
G |
Il10 |
interleukin 10 |
treatment |
ISO |
protein:decreased expression:blood |
RGD |
PMID:21653647, PMID:15860861 |
RGD:11049158, RGD:11049169 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
|
|
G |
Irf4 |
interferon regulatory factor 4 |
|
ISO |
DNA:SNP:intron:rs12203592 (human) |
RGD |
PMID:19897031 |
RGD:11526162 |
NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
|
|
G |
Itpa |
inosine triphosphatase |
treatment no_association |
ISO |
DNA:SNPs:exon:94C>A, 138G>A (human) DNA:SNP:intron |
RGD |
PMID:22009189, PMID:22009189 |
RGD:10766474, RGD:10766474 |
NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
|
|
G |
Kdm2b |
lysine demethylase 2B |
|
ISO |
mRNA:increased expression:bone marrow (human) |
RGD |
PMID:21310926 |
RGD:9588255 |
NCBI chr12:39,021,924...39,161,954
Ensembl chr12:39,078,119...39,161,956
|
|
G |
Kdm3b |
lysine demethylase 3B |
|
ISO |
protein:increased expression:bone marrow, mononuclear cell (human) |
RGD |
PMID:22615488 |
RGD:9586728 |
NCBI chr18:27,593,823...27,631,129
Ensembl chr18:27,576,129...27,631,088
|
|
G |
Kdm6a |
lysine demethylase 6A |
severity |
ISO |
DNA:mutations:cds:multiple (human) |
RGD |
PMID:22377896 |
RGD:9684944 |
NCBI chr X:4,805,493...4,945,788
Ensembl chr X:4,806,277...4,945,944
|
|
G |
Kmt2a |
lysine methyltransferase 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24736461 PMID:25730765 |
|
NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
|
|
G |
Kras |
KRAS proto-oncogene, GTPase |
disease_progression |
ISO |
|
RGD |
PMID:17910045, PMID:25917266 |
RGD:11060148, RGD:11060149 |
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
|
|
G |
Lmo2 |
LIM domain only 2 |
|
ISS |
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 |
MouseDO |
|
|
NCBI chr 3:93,909,156...93,931,888
Ensembl chr 3:93,909,156...93,931,871
|
|
G |
Mefv |
MEFV innate immuity regulator, pyrin |
susceptibility |
ISO |
DNA:polymorphisms:cds:p.E148Q,M680I(human) |
RGD |
PMID:22942567 |
RGD:11531121 |
NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
|
|
G |
Mthfr |
methylenetetrahydrofolate reductase |
disease_progression treatment |
ISO |
DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:677C>T (human) |
CTD |
PMID:16706930, PMID:19923983, PMID:21644011 |
RGD:10449398, RGD:10449407 |
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
|
|
G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
disease_progression susceptibility no_association |
ISO |
DNA:SNP::rs10925235(human) DNA:polymorphism: :66A>G(human) DNA:polymorphism: :2756A>G(human) |
RGD |
PMID:26605150, PMID:21618417, PMID:15159311, PMID:22453148 |
RGD:11531136, RGD:11531141, RGD:11531140, RGD:11531137 |
NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
|
|
G |
Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
susceptibility |
ISO |
DNA:haplotype:cds: CTD Direct Evidence: marker/mechanism DNA:SNP: :rs3776455(human) |
CTD |
PMID:17136115, PMID:17136115, PMID:23940529 |
RGD:11531133, RGD:11531135 |
NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
|
|
G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
disease_progression |
ISO |
|
RGD |
PMID:25784651 |
RGD:11532748 |
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
|
|
G |
Nat2 |
N-acetyltransferase 2 |
susceptibility no_association |
ISO |
DNA:polymorphisms: : CTD Direct Evidence: marker/mechanism DNA:polymorphisms,haplotype: : |
CTD |
PMID:22200898, PMID:25804798, PMID:22215203, PMID:21888617 |
RGD:11532767, RGD:11353805, RGD:11532769 |
NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
|
|
G |
Nbn |
nibrin |
susceptibility |
ISO |
ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute lymphoid leukemia |
OMIM ClinVar CTD |
PMID:11325820 PMID:14559852 PMID:15338273 PMID:16474176 PMID:16810201 PMID:17695489 PMID:17894553 PMID:17899368 PMID:18049891 PMID:18280732 PMID:19393249 PMID:19452044 PMID:19523210 PMID:19813148 PMID:19908051 PMID:21212067 PMID:21698754 PMID:22131123 PMID:22373003 PMID:23317186 PMID:23555315 PMID:24093751 PMID:24113799 PMID:24549055 PMID:24728327 PMID:24830725 PMID:25619955 PMID:25712764 PMID:25741868 PMID:26083025 PMID:26315354 PMID:26467025 PMID:26722329 PMID:27153395 PMID:27616075 PMID:27621404 PMID:28076423 PMID:28261280 PMID:28376765 PMID:28492532 PMID:28591191 PMID:29335925 PMID:29678143 PMID:29785153 PMID:30287823 PMID:30441849 PMID:30590007 PMID:30651582 PMID:31159747 PMID:32566746 |
|
NCBI chr 5:29,622,347...29,656,877
Ensembl chr 5:29,622,281...29,656,864
|
|
G |
Nos3 |
nitric oxide synthase 3 |
susceptibility disease_progression |
ISO |
DNA:SNP: :rs3918186(human) DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human) |
RGD |
PMID:23922896, PMID:20510681 |
RGD:11533639, RGD:11533646 |
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
|
|
G |
Notch3 |
notch receptor 3 |
|
ISS |
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 |
MouseDO |
|
|
NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
|
|
G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
|
ISO |
DNA:mutation: :609C>T (human) CTD Direct Evidence: marker/mechanism DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human) |
CTD |
PMID:11774269 PMID:17332311, PMID:18444911, PMID:11774269 |
RGD:10769347, RGD:10769359 |
NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
|
|
G |
Nras |
NRAS proto-oncogene, GTPase |
disease_progression |
ISO |
DNA:missense mutation:cds: |
RGD |
PMID:25204082 |
RGD:11535045 |
NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
|
|
G |
Nsd2 |
nuclear receptor binding SET domain protein 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24076604 |
|
NCBI chr14:82,119,210...82,196,501
Ensembl chr14:82,119,210...82,171,480
|
|
G |
Nt5c2 |
5'-nucleotidase, cytosolic II |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23377183 |
|
NCBI chr 1:266,652,966...266,782,935
Ensembl chr 1:266,659,519...266,782,910
|
|
G |
Nup214 |
nucleoporin 214 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
|
|
NCBI chr 3:9,227,869...9,236,878 NCBI chr 3:10,993,584...11,070,638
Ensembl chr 3:9,227,823...9,236,736 Ensembl chr 3:9,227,823...9,236,736
|
|
G |
Pag1 |
phosphoprotein membrane anchor with glycosphingolipid microdomains 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334668 |
|
NCBI chr 2:94,266,104...94,277,680
Ensembl chr 2:94,266,213...94,277,676
|
|
G |
Pax5 |
paired box 5 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to, 3 ClinVar Annotator: match by term: Acute lymphoid leukemia |
OMIM CTD ClinVar |
PMID:24013638 PMID:25741868 PMID:26214592 |
|
NCBI chr 5:60,007,587...60,191,973
Ensembl chr 5:60,007,587...60,191,941
|
|
G |
Pon1 |
paraoxonase 1 |
susceptibility |
ISO |
DNA:missense mutations:cds:p.L55M (rs854560), p.Q192R (rs662) (human) |
RGD |
PMID:22976839 |
RGD:11552580 |
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
|
|
G |
Prame |
PRAME nuclear receptor transcriptional regulator |
severity |
ISO |
mRNA:increased expression:blood (human) |
RGD |
PMID:27275197 |
RGD:11535025 |
NCBI chr X:106,082,984...106,091,256
Ensembl chr X:106,083,203...106,085,878
|
|
G |
Prdm14 |
PR/SET domain 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19043588 |
|
NCBI chr 5:5,710,076...5,730,560
Ensembl chr 5:5,710,392...5,730,560
|
|
G |
Pten |
phosphatase and tensin homolog |
|
ISS |
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 |
MouseDO |
|
|
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
|
|
G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334668 |
|
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
|
|
G |
RT1-Ba |
RT1 class II, locus Ba |
|
ISO |
DNA:polymorphisms, haplotype:cds:HLA-DQA1*01 (human) |
RGD |
PMID:9744491 |
RGD:11041762 |
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
|
|
G |
RT1-Bb |
RT1 class II, locus Bb |
|
ISO |
DNA:polymorphisms, haplotypes:cds:multiple DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human) |
RGD |
PMID:22434102, PMID:9744491 |
RGD:11041749, RGD:11041762 |
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
|
|
G |
Runx1 |
RUNX family transcription factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17255265 |
|
NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
|
|
G |
Slc19a1 |
solute carrier family 19 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17255265 |
|
NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
|
|
G |
Snrpe |
small nuclear ribonucleoprotein polypeptide E |
severity |
ISO |
mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) |
RGD |
PMID:23915977 |
RGD:10768836 |
NCBI chr13:50,252,707...50,258,951
Ensembl chr 8:129,371,556...129,371,973
|
|
G |
Tal1 |
TAL bHLH transcription factor 1, erythroid differentiation factor |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
|
|
NCBI chr 5:133,864,401...133,878,604
Ensembl chr 5:133,864,798...133,878,830
|
|
G |
Tal2 |
TAL bHLH transcription factor 2 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
|
|
NCBI chr 5:70,592,871...70,599,428
Ensembl chr 5:70,592,871...70,599,428
|
|
G |
Tcf3 |
transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26214592 |
|
NCBI chr 7:12,146,642...12,168,400
Ensembl chr 7:12,144,162...12,168,410
|
|
G |
Tcn2 |
transcobalamin 2 |
|
ISO |
protein:altered activity:plasma: |
RGD |
PMID:8754152 |
RGD:11059889 |
NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
|
|
G |
Tert |
telomerase reverse transcriptase |
|
ISO |
DNA:SNPs:promoter, introns:g.1296486C>T, g.12866516A>C, g.1279790G>A (rs2735940, rs2736100, rs10069690) (human) |
RGD |
PMID:23066086, PMID:15621763 |
RGD:11038654, RGD:11038667 |
NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
|
|
G |
Tm9sf2 |
transmembrane 9 superfamily member 2 |
|
ISO |
mRNA:increased expression:bone marrow, mononuclear cells (human) |
RGD |
PMID:12730115 |
RGD:2317244 |
NCBI chr15:108,526,341...108,579,268
Ensembl chr15:108,526,014...108,579,256
|
|
G |
Tp53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334668 |
|
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
|
|
G |
Tpmt |
thiopurine S-methyltransferase |
treatment no_association |
ISO |
DNA:SNPs:multiple DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human) DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human) DNA:SNPs: :multiple |
RGD |
PMID:17164697, PMID:22009189, PMID:22009189, PMID:24499706 |
RGD:11038720, RGD:10766474, RGD:10766474, RGD:11038723 |
NCBI chr17:18,029,090...18,047,716
Ensembl chr17:18,029,124...18,047,714
|
|
G |
Tyms |
thymidylate synthetase |
treatment |
ISO |
DNA:repeats: : rs347430033(human) |
RGD |
PMID:25007187 |
RGD:11080979 |
NCBI chr 9:121,918,875...121,931,564
Ensembl chr 9:121,918,947...121,931,564
|
|
G |
Uty |
ubiquitously transcribed tetratricopeptide repeat containing, Y-linked |
severity |
ISO |
DNA:mutations:cds:multiple (human) |
RGD |
PMID:22377896 |
RGD:9684944 |
NCBI chr Y:1,065,274...1,206,127
Ensembl chr Y:989,240...1,206,096
|
|
G |
Vpreb1 |
V-set pre-B cell surrogate light chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26214592 |
|
NCBI chr11:88,376,256...88,377,133
Ensembl chr11:88,376,256...88,377,133
|
|
G |
Xrcc1 |
X-ray repair cross complementing 1 |
susceptibility no_association |
ISO |
DNA:missense mutation, haplotype: :p.R399Q (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation: :p.R399Q (human) DNA:missense mutation: :p.R194W (human) |
CTD |
PMID:21983886, PMID:21983886, PMID:19101034, PMID:19101034 |
RGD:11252110, RGD:11252192, RGD:11252192 |
NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
|
|
|
G |
Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:10988075 PMID:11423618 PMID:11853795 PMID:11861307 PMID:11964322 PMID:12130516 PMID:12399961 PMID:12623848 PMID:14559829 PMID:14745431 PMID:15194504 PMID:15256422 PMID:15381060 PMID:18615627 PMID:19466505 PMID:19652056 PMID:20367437 PMID:20512393 PMID:20537386 PMID:20697894 PMID:20963643 PMID:21505103 PMID:21562040 PMID:21762985 PMID:21872826 PMID:21895409 PMID:22306673 PMID:22772060 PMID:22870928 PMID:23355941 PMID:23540562 PMID:23676790 PMID:24236021 PMID:24456693 PMID:25157968 PMID:25686603 |
|
NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
|
|
G |
Crlf2 |
cytokine receptor-like factor 2 |
|
ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:19907440 PMID:19965641 PMID:20018760 PMID:22368272 |
|
NCBI chr14:1,456,843...1,461,543
Ensembl chr14:1,456,844...1,461,543
|
|
G |
Cyp2b3 |
cytochrome P450, family 2, subfamily b, polypeptide 3 |
susceptibility |
ISO |
DNA:polymorphism:G15631T |
RGD |
PMID:19144407 |
RGD:6480472 |
NCBI chr 1:83,163,103...83,236,615
Ensembl chr 1:83,163,079...83,236,615
|
|
G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: LYMPHOMATOUS ALL |
ClinVar |
PMID:25705862 PMID:26619011 PMID:26942290 |
|
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
|
|
G |
Il7r |
interleukin 7 receptor |
|
ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:22897847 PMID:22955920 |
|
|
|
G |
Insl6 |
insulin-like 6 |
|
ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920 |
|
NCBI chr 1:247,473,292...247,476,827
Ensembl chr 1:247,473,292...247,476,827
|
|
G |
Jak1 |
Janus kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:20167706 PMID:21436584 PMID:21680795 PMID:22955920 PMID:25356970 PMID:28111307 |
|
NCBI chr 5:119,982,503...120,091,452
Ensembl chr 5:119,982,943...120,083,904
|
|
G |
Jak2 |
Janus kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920 |
|
NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
|
|
G |
Jak3 |
Janus kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:10982185 PMID:16843266 PMID:18270328 PMID:20132407 PMID:20372971 PMID:21599579 PMID:21821710 PMID:24728327 PMID:25157968 PMID:28492532 |
|
NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
|
|
|
G |
Aqp1 |
aquaporin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360
|
|
G |
Arid1a |
AT-rich interaction domain 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
|
|
G |
Arid2 |
AT-rich interaction domain 2 |
|
ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
|
|
NCBI chr 7:137,680,564...137,798,329
Ensembl chr 7:137,680,530...137,795,655
|
|
G |
Arid4b |
AT-rich interaction domain 4B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr17:53,831,353...53,955,897
Ensembl chr17:53,833,023...53,915,076
|
|
G |
Arid5b |
AT-rich interaction domain 5B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr20:21,713,900...21,881,193
Ensembl chr20:21,564,975...21,880,715
|
|
G |
Aspm |
assembly factor for spindle microtubules |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
|
|
G |
Atm |
ATM serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
|
|
G |
Atrx |
ATRX, chromatin remodeler |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr X:76,820,110...76,979,155
Ensembl chr X:76,692,970...76,708,878 Ensembl chr X:76,692,970...76,708,878
|
|
G |
Bap1 |
Brca1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
PMID:21642991 PMID:24894717 PMID:26166446 PMID:26452128 |
|
NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
|
|
G |
Bcl11a |
BAF chromatin remodeling complex subunit BCL11A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
|
|
G |
Bcor |
BCL6 co-repressor |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenoid cystic carcinoma |
CTD ClinVar |
PMID:23685749 |
|
NCBI chr X:11,570,155...11,692,022
Ensembl chr X:11,648,989...11,691,099
|
|
G |
Bcorl1 |
BCL6 co-repressor-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr X:135,187,468...135,233,859
Ensembl chr X:135,187,468...135,233,839
|
|
G |
Brca1 |
BRCA1, DNA repair associated |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
|
|
G |
Brd1 |
bromodomain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 7:129,676,119...129,724,303
Ensembl chr 7:129,676,120...129,724,303
|
|
G |
Ccnd1 |
cyclin D1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
|
|
G |
Cdh1 |
cadherin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17520682 |
|
NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
|
|
G |
Cmtr2 |
cap methyltransferase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr19:41,426,536...41,433,367
Ensembl chr19:41,427,504...41,433,346
|
|
G |
Cntn6 |
contactin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 4:136,512,201...136,904,355
Ensembl chr 4:136,512,201...136,904,355
|
|
G |
Crebbp |
CREB binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar Annotator: match by term: Carcinoma, Adenoid Cystic |
CTD ClinVar |
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:29551561 |
|
NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
|
|
G |
Dapk1 |
death associated protein kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr17:4,297,038...4,454,941
Ensembl chr17:4,297,224...4,454,778
|
|
G |
Dtl |
denticleless E3 ubiquitin protein ligase homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr13:110,219,276...110,257,345
Ensembl chr13:110,220,283...110,257,367
|
|
G |
Dtx4 |
deltex E3 ubiquitin ligase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 1:228,729,842...228,759,783
Ensembl chr 1:228,732,985...228,755,866
|
|
G |
Efhd1 |
EF-hand domain family, member D1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 9:94,362,249...94,408,884
Ensembl chr 9:94,362,299...94,408,885
|
|
G |
En1 |
engrailed homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr13:36,532,758...36,537,888
Ensembl chr13:36,532,758...36,537,093
|
|
G |
Ep300 |
E1A binding protein p300 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
|
|
G |
Erbin |
erbb2 interacting protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 2:33,880,860...33,952,806
Ensembl chr 2:33,881,024...33,920,837
|
|
G |
Espl1 |
extra spindle pole bodies like 1, separase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 7:143,896,890...143,923,868
Ensembl chr 7:143,897,014...143,923,868
|
|
G |
Fanca |
FA complementation group A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
|
|
G |
Fat1 |
FAT atypical cadherin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
|
|
G |
Fbxw7 |
F-box and WD repeat domain containing 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Carcinoma, Adenoid Cystic |
CTD ClinVar |
PMID:23685749 PMID:26619011 |
|
NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
|
|
G |
Fgf16 |
fibroblast growth factor 16 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr X:76,786,728...76,796,311
Ensembl chr X:76,786,466...76,797,069
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
PMID:26619011 |
|
NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
|
|
G |
Fgfr4 |
fibroblast growth factor receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr17:9,990,072...10,004,339
Ensembl chr17:9,990,078...10,004,321
|
|
G |
Foxo3 |
forkhead box O3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
|
|
G |
Foxp2 |
forkhead box P2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 4:41,364,441...41,944,685
Ensembl chr 4:41,364,441...41,942,023
|
|
G |
Gas2 |
growth arrest-specific 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 1:107,234,389...107,363,624
Ensembl chr 1:107,262,659...107,363,788
|
|
G |
Gas6 |
growth arrest specific 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr16:81,213,364...81,243,824
Ensembl chr16:81,213,364...81,243,757
|
|
G |
Gins2 |
GINS complex subunit 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr19:54,151,048...54,163,701
Ensembl chr19:54,151,048...54,163,608
|
|
G |
Gucy1a1 |
guanylate cyclase 1 soluble subunit alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918
|
|
G |
H1f4 |
H1.4 linker histone, cluster member |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr17:43,734,461...43,735,120
Ensembl chr17:43,734,461...43,735,120
|
|
G |
Homer3 |
homer scaffold protein 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr16:20,880,447...20,890,968
Ensembl chr16:20,881,518...20,890,949
|
|
G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar Annotator: match by term: Adenoid cystic carcinoma |
CTD ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23685749 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 |
|
NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
|
|
G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
|
ISO |
ClinVar Annotator: match by term: Carcinoma, Adenoid Cystic ClinVar Annotator: match by term: Adenocystic carcinoma |
ClinVar |
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 |
|
NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
|
|
G |
Igfbp2 |
insulin-like growth factor binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 9:80,118,029...80,144,804
Ensembl chr 9:80,118,029...80,144,789
|
|
G |
Il17rd |
interleukin 17 receptor D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr16:2,670,471...2,737,271
Ensembl chr16:2,670,618...2,731,808
|
|
G |
Insrr |
insulin receptor-related receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 2:187,161,817...187,181,400
Ensembl chr 2:187,162,017...187,181,395
|
|
G |
Irx4 |
iroquois homeobox 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 1:32,634,774...32,645,151
Ensembl chr 1:32,634,796...32,643,771
|
|
G |
Isyna1 |
inositol-3-phosphate synthase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr16:20,589,497...20,592,333
Ensembl chr16:20,589,481...20,592,449
|
|
G |
Itgb4 |
integrin subunit beta 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
|
|
G |
Jag1 |
jagged canonical Notch ligand 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
|
|
G |
Jak3 |
Janus kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
|
|
NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
|
|
G |
Jmjd1c |
jumonji domain containing 1C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr20:22,751,743...22,914,080
Ensembl chr20:22,751,743...22,882,672
|
|
G |
Kansl1 |
KAT8 regulatory NSL complex subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109
|
|
G |
Kat6a |
lysine acetyltransferase 6A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005
|
|
G |
Kdm6a |
lysine demethylase 6A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr X:4,805,493...4,945,788
Ensembl chr X:4,806,277...4,945,944
|
|
G |
Kdm6b |
lysine demethylase 6B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr10:56,000,494...56,009,582
Ensembl chr10:56,001,799...56,008,885
|
|
G |
Kmt2c |
lysine methyltransferase 2C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 4:82,506...109,986 NCBI chr 4:6,083,650...6,294,413
Ensembl chr 4:6,083,736...6,292,516
|
|
G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
PMID:6695174 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22722830 PMID:23182985 PMID:23406027 PMID:25157968 |
|
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
|
|
G |
Krt15 |
keratin 15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr10:88,046,803...88,050,622
Ensembl chr10:88,046,803...88,050,622
|
|
G |
Krt5 |
keratin 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
|
|
G |
Lrrc56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Adenocystic carcinoma |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 |
|
NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
|
|
G |
Magi1 |
membrane associated guanylate kinase, WW and PDZ domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 4:125,684,816...126,300,013
Ensembl chr 4:125,687,307...125,958,112
|
|
G |
Magi2 |
membrane associated guanylate kinase, WW and PDZ domain containing 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 4:10,995,241...12,472,423
Ensembl chr 4:10,995,234...11,610,518
|
|
G |
Maml3 |
mastermind-like transcriptional coactivator 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 2:140,734,138...141,276,886
|
|
G |
Map2k2 |
mitogen activated protein kinase kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
|
|
G |
Marcks |
myristoylated alanine rich protein kinase C substrate |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr20:42,966,140...42,971,838
Ensembl chr20:42,966,140...42,971,838
|
|
G |
Mark2 |
microtubule affinity regulating kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 1:222,525,547...222,590,727
Ensembl chr 1:222,525,990...222,590,220
|
|
G |
Mecom |
MDS1 and EVI1 complex locus |
|
ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
|
|
NCBI chr 2:117,396,084...117,993,604
Ensembl chr 2:117,396,007...117,454,769
|
|
G |
Mga |
MAX dimerization protein MGA |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 3:111,669,645...111,760,822
Ensembl chr 3:111,699,021...111,759,911
|
|
G |
Mier2 |
MIER family member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 7:13,039,759...13,055,632
Ensembl chr 7:13,039,781...13,055,632
|
|
G |
Mlc1 |
modulator of VRAC current 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 7:129,949,984...129,970,314
Ensembl chr 7:129,949,967...129,970,550
|
|
G |
Morf4l1 |
mortality factor 4 like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 8:97,473,454...97,494,974
Ensembl chr 8:97,474,092...97,494,834
|
|
G |
Myb |
MYB proto-oncogene, transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 PMID:26829750 |
|
NCBI chr 1:16,658,178...16,690,135
Ensembl chr 1:16,659,442...16,687,817
|
|
G |
Mybl1 |
MYB proto-oncogene like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 5:9,279,756...9,315,112
Ensembl chr 5:9,279,970...9,315,114
|
|
G |
Mycbp |
Myc binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 5:141,560,192...141,567,399
Ensembl chr 5:141,560,192...141,567,399
|
|
G |
Mycn |
MYCN proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
|
|
G |
Neto2 |
neuropilin and tolloid like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr19:22,450,579...22,486,530
Ensembl chr19:22,450,030...22,486,531
|
|
G |
Nfib |
nuclear factor I/B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 5:100,436,343...100,647,962
Ensembl chr 5:100,439,082...100,647,727
|
|
G |
Notch1 |
notch receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenoid cystic carcinoma |
CTD ClinVar |
PMID:23685749 |
|
NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
|
|
G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
|
|
G |
Pcsk1n |
proprotein convertase subtilisin/kexin type 1 inhibitor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr X:15,324,263...15,327,705
|
|
G |
Pdzk1 |
PDZ domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 2:198,965,685...198,999,323
Ensembl chr 2:198,965,685...198,999,323
|
|
G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Carcinoma, Adenoid Cystic |
CTD ClinVar |
PMID:15930273 PMID:17376864 PMID:19366826 PMID:22120714 PMID:22658544 PMID:23685749 PMID:24033266 PMID:25157968 PMID:26619011 PMID:28492532 PMID:29446767 |
|
NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
|
|
G |
Prkdc |
protein kinase, DNA-activated, catalytic subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr11:89,293,547...89,510,948
Ensembl chr11:89,293,696...89,510,871
|
|
G |
Pten |
phosphatase and tensin homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
|
|
G |
Pygb |
glycogen phosphorylase B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 3:146,581,063...146,629,504
Ensembl chr 3:146,582,752...146,634,535
|
|
G |
Rbfox2 |
RNA binding fox-1 homolog 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 7:118,157,093...118,396,733
Ensembl chr 7:118,156,946...118,396,728
|
|
G |
Serpinf1 |
serpin family F member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
|
|
G |
Setd2 |
SET domain containing 2, histone lysine methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
|
|
G |
Sf3b1 |
splicing factor 3b, subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Carcinoma, Adenoid Cystic |
ClinVar |
PMID:26619011 |
|
NCBI chr 9:61,594,620...61,634,510
Ensembl chr 9:61,594,620...61,634,510
|
|
G |
Slc24a3 |
solute carrier family 24 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 3:139,333,942...139,835,728
Ensembl chr 3:139,695,028...139,833,967
|
|
G |
Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenoid cystic carcinoma |
CTD ClinVar |
PMID:23685749 |
|
NCBI chr 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706
|
|
G |
Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
|
ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
|
|
NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
|
|
G |
Smarce1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr10:87,116,827...87,138,890
Ensembl chr10:87,116,827...87,137,965
|
|
G |
Smc1a |
structural maintenance of chromosomes 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr X:21,710,976...21,755,708
Ensembl chr X:21,711,019...21,755,525
|
|
G |
Son |
SON DNA and RNA binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr11:31,806,598...31,837,769
Ensembl chr11:31,806,618...31,837,763
|
|
G |
Sox11 |
SRY-box transcription factor 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 6:46,629,967...46,631,988
Ensembl chr 6:46,629,974...46,631,983
|
|
G |
Sox4 |
SRY-box transcription factor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr17:37,615,022...37,619,728
|
|
G |
Srcap |
Snf2-related CREBBP activator protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 1:198,957,764...199,007,576
Ensembl chr 1:198,960,542...199,007,347
|
|
G |
St3gal4 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 8:36,264,741...36,314,811
Ensembl chr 8:36,264,750...36,314,811
|
|
G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
|
|
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
|
|
G |
Tlk1 |
tousled-like kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 3:57,012,738...57,376,336
Ensembl chr 3:57,013,025...57,119,001
|
|
G |
Top2a |
DNA topoisomerase II alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr10:86,901,467...86,930,947
Ensembl chr10:86,901,007...86,932,154
|
|
G |
Tp53 |
tumor protein p53 |
disease_progression |
ISO |
ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar Annotator: match by term: Carcinoma, Adenoid Cystic CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:1673792 PMID:1686725 PMID:7707106 PMID:7881428 PMID:8080050 PMID:8364550 PMID:8869100 PMID:10713666 PMID:11479205 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12826609 PMID:16494995 PMID:16736287 PMID:16861262 PMID:17541742 PMID:17606709 PMID:18208484 PMID:19468865 PMID:20128691 PMID:20407015 PMID:20522432 PMID:21343334 PMID:21626334 PMID:21761402 PMID:23259501 PMID:23625637 PMID:23685749 PMID:24033266 PMID:24384472 PMID:24728327 PMID:25503501 PMID:25584008 PMID:25741868 PMID:26270727 PMID:26467025 PMID:26619011 PMID:27489289 PMID:27533082 PMID:28369373 PMID:28492532 PMID:28861920 PMID:29070607 PMID:29324801 PMID:29489754 PMID:29979965 PMID:30224644 PMID:30299350 PMID:30720243 PMID:31775759, PMID:16249115 |
RGD:8547828 |
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
|
|
G |
Uhrf1 |
ubiquitin-like with PHD and ring finger domains 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr 9:10,738,211...10,758,403
Ensembl chr 9:10,738,222...10,757,954
|
|
G |
Vcan |
versican |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 2:18,490,102...18,587,340
Ensembl chr 2:18,490,102...18,565,842
|
|
G |
Wnt5b |
Wnt family member 5B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 4:151,500,962...151,516,894
Ensembl chr 4:151,500,957...151,516,894
|
|
G |
Xrn2 |
5'-3' exoribonuclease 2 |
|
ISO |
DNA:hypermethylation:3' utr: (human) |
RGD |
PMID:21692051 |
RGD:11041796 |
NCBI chr 3:141,224,858...141,298,272
Ensembl chr 3:141,225,290...141,298,265
|
|
|
G |
Ada |
adenosine deaminase |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to ADA deficiency ClinVar Annotator: match by term: SCID DUE TO ADA DEFICIENCY, EARLY-ONSET ClinVar Annotator: match by OMIM:102700 ClinVar Annotator: match by synonym: SCID due to ADA deficiency, delayed onset |
OMIM ClinVar |
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 PMID:1680289 PMID:1696926 PMID:1974554 PMID:2166947 PMID:2651461 PMID:2758612 PMID:2773932 PMID:2783588 PMID:3007108 PMID:3182793 PMID:3366897 PMID:3475710 PMID:3684597 PMID:3839802 PMID:6208479 PMID:7554472 PMID:7599635 PMID:8023852 PMID:8031011 PMID:8051429 PMID:8120281 PMID:8178821 PMID:8227344 PMID:8258146 PMID:8299233 PMID:8401541 PMID:8589684 PMID:8614422 PMID:8673127 PMID:9108404 PMID:9225964 PMID:9361033 PMID:9414266 PMID:9616253 PMID:9758612 PMID:9806422 PMID:10200056 PMID:11067872 PMID:11160213 PMID:11313286 PMID:11354825 PMID:11807006 PMID:14499267 PMID:16276484 PMID:16825284 PMID:17181544 PMID:17185467 PMID:18952502 PMID:19179314 PMID:19665771 PMID:19830125 PMID:20544538 PMID:21228398 PMID:21410451 PMID:21624848 PMID:21664875 PMID:21865538 PMID:22409989 PMID:22447032 PMID:22764473 PMID:22968453 PMID:23260757 PMID:24033266 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25875700 PMID:25954555 PMID:26255240 PMID:26376800 PMID:27095930 PMID:27129325 PMID:27484032 PMID:27872624 PMID:28266921 PMID:28492532 PMID:29744787 PMID:30290665 PMID:30858051 PMID:31319225 |
|
NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
|
|
G |
Myh7 |
myosin heavy chain 7 |
|
ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 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
|
|
G |
Rag1 |
recombination activating 1 |
|
ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:11133745 PMID:21664875 PMID:24290284 PMID:24406074 PMID:26476733 PMID:26596586 PMID:28492532 PMID:30290665 |
|
NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
|
|
|
G |
Birc5 |
baculoviral IAP repeat-containing 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16497974 |
|
NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413
|
|
G |
Bmp6 |
bone morphogenetic protein 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18688853 |
|
NCBI chr17:26,955,142...27,112,820
Ensembl chr17:26,955,142...27,112,820
|
|
G |
Card11 |
caspase recruitment domain family, member 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr12:15,700,600...15,844,512
Ensembl chr12:15,700,825...15,844,512
|
|
G |
Ccr4 |
C-C motif chemokine receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 8:122,530,152...122,535,959
Ensembl chr 8:122,530,624...122,532,070
|
|
G |
Ccr7 |
C-C motif chemokine receptor 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr10:87,057,335...87,067,444
Ensembl chr10:87,057,136...87,067,456
|
|
G |
Cd274 |
CD274 molecule |
disease_progression |
ISO |
|
RGD |
PMID:27418641 |
RGD:41412177 |
NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
|
|
G |
Cd28 |
Cd28 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
|
|
G |
Cd80 |
Cd80 molecule |
|
IMP |
|
RGD |
PMID:10590132 |
RGD:6902938 |
NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
|
|
G |
Cd86 |
CD86 molecule |
|
IMP |
|
RGD |
PMID:10590132 |
RGD:6902938 |
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
|
|
G |
Csnk1a1 |
casein kinase 1, alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr18:56,887,722...56,910,610
Ensembl chr18:56,887,354...56,918,345
|
|
G |
Csnk2a1 |
casein kinase 2 alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 3:147,713,808...147,760,375
Ensembl chr 3:147,713,821...147,757,862
|
|
G |
Csnk2b |
casein kinase 2 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr20:5,108,692...5,113,675
Ensembl chr20:5,106,890...5,113,112
|
|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
|
|
G |
Fas |
Fas cell surface death receptor |
susceptibility |
ISO |
DNA:polymorphism:promoter: -670 G>A(human) protein:increased expression:peripheral blood mononuclear cell: |
RGD |
PMID:17962369, PMID:7513372 |
RGD:11049147, RGD:11049453 |
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
|
|
G |
Foxp3 |
forkhead box P3 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23962110, PMID:23797717 |
RGD:38456007 |
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
|
|
G |
Fyn |
FYN proto-oncogene, Src family tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr20:44,436,354...44,630,316
Ensembl chr20:44,436,403...44,630,317
|
|
G |
Gata3 |
GATA binding protein 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
|
|
G |
Gpr183 |
G protein-coupled receptor 183 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr15:108,364,701...108,376,221
Ensembl chr15:108,364,701...108,376,221
|
|
G |
Hnrnpa2b1 |
heterogeneous nuclear ribonucleoprotein A2/B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 4:81,237,496...81,241,281
Ensembl chr 4:81,237,496...81,241,282
|
|
G |
Icos |
inducible T-cell co-stimulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
|
|
G |
Ifng |
interferon gamma |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23962110, PMID:8800741 |
RGD:10755707 |
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
|
|
G |
Ikzf2 |
IKAROS family zinc finger 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 9:76,621,230...76,771,017
Ensembl chr 9:76,621,230...76,768,806
|
|
G |
Il10 |
interleukin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23962110, PMID:8704212 |
RGD:11049460 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
|
|
G |
Il2 |
interleukin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23962110 |
|
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
|
|
G |
Il4 |
interleukin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23962110 |
|
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
|
|
G |
Il5 |
interleukin 5 |
disease_progression |
ISO |
protein:increased expression:serum |
RGD |
PMID:16425276 |
RGD:11354942 |
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
|
|
G |
Il6 |
interleukin 6 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:10374863 |
RGD:11060275 |
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
|
|
G |
Irf4 |
interferon regulatory factor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
|
|
G |
Jak3 |
Janus kinase 3 |
|
ISO |
DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) |
RGD |
PMID:21821710 |
RGD:11531131 |
NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
|
|
G |
Myb |
MYB proto-oncogene, transcription factor |
disease_progression |
ISO |
mRNA:splice variants:CD4+ T cell: |
RGD |
PMID:27307595 |
RGD:11532670 |
NCBI chr 1:16,658,178...16,690,135
Ensembl chr 1:16,659,442...16,687,817
|
|
G |
Notch1 |
notch receptor 1 |
|
ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:16707600 |
RGD:1580759 |
NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
|
|
G |
Nras |
NRAS proto-oncogene, GTPase |
disease_progression |
ISO |
|
RGD |
PMID:21586752 |
RGD:11535055 |
NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
|
|
G |
Plcg1 |
phospholipase C, gamma 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 3:156,727,642...156,758,307
Ensembl chr 3:156,727,642...156,758,307
|
|
G |
Prkcb |
protein kinase C, beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 1:192,233,569...192,575,339
Ensembl chr 1:192,233,910...192,574,831
|
|
G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24090995 |
|
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
|
|
G |
Tal2 |
TAL bHLH transcription factor 2 |
|
ISO |
|
RGD |
PMID:1763056 |
RGD:1599285 |
NCBI chr 5:70,592,871...70,599,428
Ensembl chr 5:70,592,871...70,599,428
|
|
G |
Terf2 |
telomeric repeat binding factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17643074 |
|
NCBI chr19:39,271,992...39,301,506
Ensembl chr19:39,272,499...39,300,893
|
|
G |
Tlx1 |
T-cell leukemia, homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1717256, PMID:1683261 |
RGD:1599439 |
NCBI chr 1:264,893,033...264,899,424
Ensembl chr 1:264,893,162...264,899,423
|
|
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
|
|
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
|
|
G |
Tp73 |
tumor protein p73 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 5:171,355,876...171,415,354
Ensembl chr 5:171,355,876...171,415,354
|
|
G |
Vav1 |
vav guanine nucleotide exchange factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 9:9,617,551...9,675,167
Ensembl chr 9:9,617,786...9,675,110
|
|
|
G |
Blnk |
B-cell linker |
susceptibility |
ISO |
DNA:splice-site mutation CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10583958 |
RGD:1600518 |
NCBI chr 1:260,187,023...260,254,490
Ensembl chr 1:260,186,967...260,254,600
|
|
G |
Btk |
Bruton tyrosine kinase |
susceptibility |
ISO |
DNA:insertions, point mutations ClinVar Annotator: match by term: Agammaglobulinemia CTD Direct Evidence: therapeutic |
ClinVar CTD |
PMID:10352268 PMID:15142874, PMID:8162018 |
RGD:1600526 |
NCBI chr X:105,360,922...105,390,580
Ensembl chr X:105,360,922...105,390,580
|
|
G |
Cd19 |
CD19 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16672701 |
|
NCBI chr 1:197,815,422...197,822,123
Ensembl chr 1:197,815,413...197,821,936
|
|
G |
Cd79a |
CD79a molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 1:81,763,609...81,768,039
Ensembl chr 1:81,763,614...81,767,980
|
|
G |
Cd79b |
CD79b molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr10:94,497,445...94,500,591
Ensembl chr10:94,497,448...94,500,591
|
|
G |
Lrrc8a |
leucine rich repeat containing 8 VRAC subunit A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14660746 |
RGD:1599837 |
NCBI chr 3:8,801,544...8,829,506
Ensembl chr 3:8,802,852...8,828,533
|
|
G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
ISS |
OMIM:601495 | OMIM:612692 | OMIM:613500 | OMIM:613501 | OMIM:613502 | OMIM:613506 | OMIM:615214 |
MouseDO |
|
|
NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
|
|
G |
Sec61a1 |
SEC61 translocon subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogammaglobulinemia |
ClinVar |
PMID:25741868 PMID:28782633 |
|
NCBI chr 4:120,453,577...120,467,932
Ensembl chr 4:120,453,581...120,467,932
|
|
G |
Tcf3 |
transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 7:12,146,642...12,168,400
Ensembl chr 7:12,144,162...12,168,410
|
|
|
G |
Btk |
Bruton tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 |
ClinVar |
PMID:7678697 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8090769 PMID:8162056 PMID:8380905 PMID:8594569 PMID:8695804 PMID:8939985 PMID:9143921 PMID:9188445 PMID:9445504 PMID:9524120 PMID:9545398 PMID:9880544 PMID:10092645 PMID:11206059 PMID:11410123 PMID:11445810 PMID:11472359 PMID:11668622 PMID:11742281 PMID:12217331 PMID:14974089 PMID:15661032 PMID:16951917 PMID:17327079 PMID:17765309 PMID:18518992 PMID:19039656 PMID:19904586 PMID:20529312 PMID:23424595 PMID:25741868 PMID:27512878 PMID:27980540 PMID:28492532 PMID:29424453 PMID:29503650 PMID:30072168 PMID:30564228 |
|
NCBI chr X:105,360,922...105,390,580
Ensembl chr X:105,360,922...105,390,580
|
|
G |
Cd79a |
CD79a molecule |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:81,763,609...81,768,039
Ensembl chr 1:81,763,614...81,767,980
|
|
|
G |
Cd79a |
CD79a molecule |
|
ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive |
OMIM ClinVar |
PMID:10525050 PMID:11920841 PMID:24728327 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:81,763,609...81,768,039
Ensembl chr 1:81,763,614...81,767,980
|
|
|
G |
Blnk |
B-cell linker |
|
ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar Annotator: match by OMIM:613502 |
OMIM ClinVar |
PMID:10583958 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:260,187,023...260,254,490
Ensembl chr 1:260,186,967...260,254,600
|
|
G |
Zfp518a |
zinc finger protein 518A |
|
ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:260,152,881...260,178,360
Ensembl chr 1:260,153,645...260,178,349
|
|
|
G |
Lrrc8a |
leucine rich repeat containing 8 VRAC subunit A |
|
ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant |
OMIM ClinVar |
PMID:14660746 PMID:28492532 |
|
NCBI chr 3:8,801,544...8,829,506
Ensembl chr 3:8,802,852...8,828,533
|
|
|
G |
Cd79b |
CD79b molecule |
|
ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive ClinVar Annotator: match by OMIM:612692 |
OMIM ClinVar |
PMID:17675462 PMID:17709424 PMID:24728327 PMID:25741868 PMID:28492532 |
|
NCBI chr10:94,497,445...94,500,591
Ensembl chr10:94,497,448...94,500,591
|
|
|
G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive |
OMIM ClinVar |
PMID:22351933 PMID:25133428 |
|
NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
|
|
|
G |
Tcf3 |
transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant |
ClinVar OMIM |
PMID:21693761 PMID:24216514 PMID:25741868 PMID:28492532 |
|
NCBI chr 7:12,146,642...12,168,400
Ensembl chr 7:12,144,162...12,168,410
|
|
|
G |
Alk |
ALK receptor tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16151469 PMID:19503098 PMID:21345110 PMID:22155737 PMID:22920921 PMID:22968692, PMID:15659732 |
RGD:1600902 |
NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
|
|
G |
Hsp90aa1 |
heat shock protein 90 alpha family class A member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17157164 |
|
NCBI chr 6:135,107,262...135,112,793
Ensembl chr 6:135,107,271...135,112,775
|
|
G |
Irf4 |
interferon regulatory factor 4 |
|
ISO |
DNA:translocation |
RGD |
PMID:18987657 |
RGD:11526155 |
NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
|
|
G |
Junb |
JunB proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
|
RGD |
PMID:12145210 |
RGD:1549449 |
NCBI chr19:26,092,972...26,094,756
Ensembl chr19:26,092,974...26,094,756
|
|
G |
Npm1 |
nucleophosmin 1 |
|
ISO |
|
RGD |
PMID:15659732 |
RGD:1600902 |
NCBI chr10:18,080,949...18,091,062
Ensembl chr10:18,080,950...18,090,950
|
|
G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17261581 |
|
NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
|
|
G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22155737 |
|
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
|
|
G |
Tnfrsf8 |
TNF receptor superfamily member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10908157 PMID:17261581 |
|
NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
|
|
G |
Twist1 |
twist family bHLH transcription factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22155737 |
|
NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
|
|
|
G |
Slc29a3 |
solute carrier family 29 member 3 |
|
ISO |
ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome |
ClinVar |
PMID:29751792 |
|
NCBI chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361
|
|
|
G |
Acta2 |
actin alpha 2, smooth muscle |
|
ISO |
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
|
|
G |
Ankrd22 |
ankyrin repeat domain 22 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:252,430,750...252,461,346
Ensembl chr 1:252,429,677...252,461,461
|
|
G |
Casp8 |
caspase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
|
|
G |
Ch25h |
cholesterol 25-hydroxylase |
|
ISO |
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:252,807,062...252,811,409
Ensembl chr 1:252,807,065...252,808,380
|
|
G |
Fas |
Fas cell surface death receptor |
|
ISO |
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome DNA:mutations:cds:555C>T,889A>G(human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:601859 |
OMIM ClinVar CTD |
PMID:4852259 PMID:7540117 PMID:9028321 PMID:9927496 PMID:10090885 PMID:10515860 PMID:10875918 PMID:12657942 PMID:15459303 PMID:15877736 PMID:16537120 PMID:17674358 PMID:20682655 PMID:20935634 PMID:21183795 PMID:21490157 PMID:21625619 PMID:22237435 PMID:23407489 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26942442 PMID:28492532, PMID:10200300, PMID:9028321, PMID:10497009 |
RGD:12904015, RGD:12903983, RGD:12903956 |
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
|
|
G |
Faslg |
Fas ligand |
|
ISO |
ClinVar Annotator: match by OMIM:601859 ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT |
ClinVar OMIM |
PMID:17605793 PMID:25741868 PMID:28492532 |
|
NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
|
|
G |
Ifit2 |
interferon-induced protein with tetratricopeptide repeats 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:252,894,663...252,900,727
Ensembl chr 1:252,894,663...252,900,726
|
|
G |
Ifit3 |
interferon-induced protein with tetratricopeptide repeats 3 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:252,906,234...252,911,377
Ensembl chr 1:252,906,234...252,911,382
|
|
G |
Lipa |
lipase A, lysosomal acid type |
|
ISO |
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904
|
|
G |
Lipm |
lipase, family member M |
|
ISO |
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:252,409,232...252,428,567
Ensembl chr 1:252,409,268...252,428,774
|
|
G |
Lipn |
lipase, family member N |
|
ISO |
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:252,375,941...252,394,226
Ensembl chr 1:252,375,933...252,396,460
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
disease_progression |
ISO |
|
RGD |
PMID:21376533 |
RGD:13204846 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
|
|
G |
Nras |
NRAS proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17517660 |
|
NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
|
|
G |
Stambpl1 |
STAM binding protein-like 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:252,490,125...252,536,113
Ensembl chr 1:252,497,452...252,536,104
|
|
|
G |
Casp8 |
caspase 8 |
|
ISO |
ClinVar Annotator: match by term: Caspase-8 deficiency ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B |
ClinVar OMIM |
PMID:12353035 PMID:15601643 PMID:15998955 PMID:17293864 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30267714 |
|
NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
|
|
|
G |
Prkcd |
protein kinase C, delta |
|
ISO |
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III |
OMIM ClinVar |
PMID:11976687 PMID:23319571 PMID:23430113 PMID:23666743 PMID:25741868 PMID:28492532 PMID:30257684 |
|
NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746
|
|
|
G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder |
OMIM ClinVar |
PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 PMID:8439212 PMID:12460918 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17910045 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20978259 PMID:21063026 PMID:21079152 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22025163 PMID:22392911 PMID:22407852 PMID:22499344 PMID:22571758 PMID:22683711 PMID:22734028 PMID:23014527 PMID:23096712 PMID:23182985 PMID:23406027 PMID:24033266 PMID:24558511 PMID:24720724 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26623049 PMID:28492532 PMID:29298116 PMID:31891627 |
|
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
|
|
G |
Nras |
NRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV |
OMIM ClinVar |
PMID:2407301 PMID:2674680 PMID:2989702 PMID:8120410 PMID:16291983 PMID:17332249 PMID:17517660 PMID:18375819 PMID:18390968 PMID:19657110 PMID:19775298 PMID:20130576 PMID:20179705 PMID:21079152 PMID:23414587 PMID:23431193 PMID:25157968 PMID:26619011 |
|
NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
|
|
|
G |
Fas |
Fas cell surface death receptor |
|
ISO |
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1a |
ClinVar |
PMID:4165068 PMID:4852259 PMID:7539157 PMID:7540117 PMID:8929361 PMID:9028321 PMID:9821419 PMID:9927496 PMID:10090885 PMID:10200300 PMID:10515860 PMID:10709732 PMID:15459302 PMID:20935634 PMID:21490157 PMID:23407489 PMID:26942442 PMID:28492532 |
|
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
|
|
|
G |
Faslg |
Fas ligand |
|
ISO |
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1b |
ClinVar |
PMID:8787672 PMID:25741868 |
|
NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
|
|
|
G |
Cd28 |
Cd28 molecule |
|
ISO |
ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V |
ClinVar |
PMID:28492532 PMID:29729943 PMID:30326257 |
|
NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
|
|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V ClinVar Annotator: match by term: CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION |
OMIM ClinVar |
PMID:25213377 PMID:25329329 PMID:25741868 PMID:26478010 PMID:26884280 PMID:27102614 PMID:27577878 PMID:27908448 PMID:28492532 PMID:28960754 PMID:29077208 PMID:29225858 PMID:29305966 PMID:29729943 PMID:30048690 PMID:30250467 PMID:30326257 PMID:30443250 PMID:30940614 |
|
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
|
|
G |
Icos |
inducible T-cell co-stimulator |
|
ISO |
ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V |
ClinVar |
PMID:28492532 PMID:29729943 PMID:30326257 |
|
NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
|
|
G |
Raph1 |
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V |
ClinVar |
PMID:28492532 PMID:29729943 PMID:30326257 |
|
NCBI chr 9:67,290,004...67,370,208
Ensembl chr 9:67,293,309...67,341,341
|
|
|
G |
Ripk1 |
receptor interacting serine/threonine kinase 1 |
|
ISO |
ClinVar Annotator: match by term: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY |
ClinVar OMIM |
PMID:31827280 PMID:31827281 |
|
NCBI chr17:31,537,580...31,569,904
Ensembl chr17:31,537,591...31,569,904
|
|
|
G |
Tnfrsf11a |
TNF receptor superfamily member 11A |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 ClinVar Annotator: match by term: Osteopetrosis autosomal recessive 7 ClinVar Annotator: match by OMIM:612301 |
OMIM ClinVar |
PMID:15231021 PMID:18606301 PMID:19940926 PMID:28492532 |
|
NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
G |
Bcl2 |
BCL2, apoptosis regulator |
|
ISO |
|
OMIM |
|
|
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Pbx1 |
PBX homeobox 1 |
|
ISO |
|
OMIM |
|
|
NCBI chr13:86,390,741...86,671,460
Ensembl chr13:86,390,741...86,451,002
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
|
G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Blau syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Sarcoidosis, early-onset ClinVar Annotator: match by OMIM:186580 DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human) DNA:snp:cds:p.E383K (human) DNA:snp:cds:p.E383G (human) DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human) |
OMIM ClinVar CTD |
PMID:7825454 PMID:9124059 PMID:11087742 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11528384 PMID:11875755 PMID:11910337 PMID:12019468 PMID:12115249 PMID:12512038 PMID:12557156 PMID:12577202 PMID:12626759 PMID:12630966 PMID:14508222 PMID:14522785 PMID:14765395 PMID:15024686 PMID:15044951 PMID:15086578 PMID:15190267 PMID:15198989 PMID:15320482 PMID:15459013 PMID:15554080 PMID:15571588 PMID:15712650 PMID:15770725 PMID:15812565 PMID:15967635 PMID:15998797 PMID:16278823 PMID:16485124 PMID:16804397 PMID:17157607 PMID:17207093 PMID:17393391 PMID:17941079 PMID:17968944 PMID:18056399 PMID:18240302 PMID:18419343 PMID:18489434 PMID:18507017 PMID:18541930 PMID:18718560 PMID:18955195 PMID:19116920 PMID:19467619 PMID:19479836 PMID:19479837 PMID:19713276 PMID:20032092 PMID:20039400 PMID:20084402 PMID:20199415 PMID:20230816 PMID:20565245 PMID:20959815 PMID:21274544 PMID:21335489 PMID:21548950 PMID:21830272 PMID:21914217 PMID:21983784 PMID:22319155 PMID:22470564 PMID:22509093 PMID:22684479 PMID:22926499 PMID:22942351 PMID:23102769 PMID:23334666 PMID:23806086 PMID:24033266 PMID:24088041 PMID:24391456 PMID:24583628 PMID:24595243 PMID:24713464 PMID:24803813 PMID:24876985 PMID:24960071 PMID:25093298 PMID:25136265 PMID:25416713 PMID:25429073 PMID:25687216 PMID:25741868 PMID:25829188 PMID:26070941 PMID:26164256 PMID:26316104 PMID:26500656 PMID:26606664 PMID:27306066 PMID:27339507 PMID:28492532 PMID:28639104 PMID:28814775 PMID:29248579 PMID:29503906 PMID:29697845 PMID:30166421, PMID:19479837, PMID:15812565, PMID:19116920, PMID:11528384 |
RGD:8547518, RGD:8547515, RGD:8158051, RGD:8158040 |
NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Mir23b |
microRNA 23b |
treatment |
ISO |
|
RGD |
PMID:27991481 |
RGD:41404643 |
NCBI chr17:823,222...823,318
Ensembl chr17:823,222...823,318
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15182131 |
|
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
|
|
|
G |
Il10 |
interleukin 10 |
|
ISO |
DNA:SNP:promoter:-1082G>A (human) |
RGD |
PMID:22628023 |
RGD:7364831 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
|
|
|
G |
Ptpn14 |
protein tyrosine phosphatase, non-receptor type 14 |
|
ISO |
ClinVar Annotator: match by term: Choanal atresia and lymphedema ClinVar Annotator: match by OMIM:613611 |
OMIM ClinVar |
PMID:20826270 |
|
NCBI chr13:108,689,916...108,841,593
Ensembl chr13:108,696,336...108,841,511
|
|
|
G |
Ccdc116 |
coiled-coil domain containing 116 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,092,794...88,100,220
Ensembl chr11:88,095,170...88,098,252
|
|
G |
Mapk1 |
mitogen activated protein kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
|
|
G |
Mir130b |
microRNA 130b |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,129,773...88,129,854
Ensembl chr11:88,129,773...88,129,854
|
|
G |
Ppil2 |
peptidylprolyl isomerase like 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,147,342...88,169,968
Ensembl chr11:88,147,377...88,169,968
|
|
G |
Ppm1f |
protein phosphatase, Mg2+/Mn2+ dependent, 1F |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,313,709...88,343,726
Ensembl chr11:88,313,709...88,343,627
|
|
G |
Prame |
PRAME nuclear receptor transcriptional regulator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr X:106,082,984...106,091,256
Ensembl chr X:106,083,203...106,085,878
|
|
G |
Rimbp3 |
RIMS binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,033,213...88,039,002
Ensembl chr11:88,033,180...88,038,518
|
|
G |
Sdf2l1 |
stromal cell-derived factor 2-like 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,122,271...88,124,513
Ensembl chr11:88,122,271...88,124,513
|
|
G |
Tmem191c |
transmembrane protein 191C |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:87,975,508...87,982,861
Ensembl chr11:87,975,527...87,977,368
|
|
G |
Top3b |
DNA topoisomerase III beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,346,305...88,374,896
Ensembl chr11:88,346,313...88,374,679
|
|
G |
Ube2l3 |
ubiquitin-conjugating enzyme E2L 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,047,186...88,088,477
Ensembl chr11:88,047,832...88,088,476
|
|
G |
Vpreb1 |
V-set pre-B cell surrogate light chain 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,376,256...88,377,133
Ensembl chr11:88,376,256...88,377,133
|
|
G |
Ydjc |
YdjC chitooligosaccharide deacetylase homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,089,142...88,094,254
Ensembl chr11:88,090,921...88,093,516
|
|
G |
Ypel1 |
yippee-like 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,171,401...88,186,000
Ensembl chr11:88,173,890...88,180,542
|
|
G |
Zfp280b |
zinc finger protein 280B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr20:13,566,381...13,581,215
Ensembl chr20:13,567,803...13,581,164
|
|
|
G |
Ak3 |
adenylate kinase 3 |
|
ISO |
protein:increased expression:peripheral blood mononuclear cell |
RGD |
PMID:27078856 |
RGD:13842476 |
NCBI chr 1:247,144,486...247,169,690
Ensembl chr 1:247,144,491...247,169,693
|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
PMID:12068308 PMID:12198537 PMID:12692057 PMID:12960123 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15035987 PMID:16187918 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17704260 PMID:18039235 PMID:18060073 PMID:18368129 PMID:18413255 PMID:18794803 PMID:19206169 PMID:19383316 PMID:19537845 PMID:19913317 PMID:20350999 PMID:20619739 PMID:21129611 PMID:21639808 PMID:22048237 PMID:22310681 PMID:22495831 PMID:22663011 PMID:22972589 PMID:23352452 PMID:23680146 PMID:24033266 PMID:24451042 PMID:25155755 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29595366 |
|
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
|
|
G |
Btk |
Bruton tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Chronic lymphocytic leukemia |
ClinVar |
PMID:24869598 PMID:25741868 PMID:28492532 |
|
NCBI chr X:105,360,922...105,390,580
Ensembl chr X:105,360,922...105,390,580
|
|
G |
Cd40lg |
CD40 ligand |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:9450802 |
RGD:11522717 |
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
|
|
G |
Cd86 |
CD86 molecule |
|
ISO |
DNA:hypermethylation (human) |
RGD |
PMID:23154584 |
RGD:11354975 |
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
|
|
G |
Fbxw7 |
F-box and WD repeat domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
PMID:25741868 PMID:26619011 |
|
NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
|
|
G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29493581 PMID:31775759 PMID:168335863 |
|
NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
|
|
G |
Il5 |
interleukin 5 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21911837 |
RGD:11354912 |
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
|
|
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 |
RGD:11526156, RGD:11530031, RGD:11530029, RGD:11530026, RGD:11530021, RGD:11526158 |
NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
|
|
G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Chronic lymphocytic leukemia |
ClinVar |
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:18316791 PMID:18794081 PMID:19075190 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:22407852 PMID:22722830 PMID:23325582 PMID:25157968 PMID:26619011 |
|
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
|
|
G |
Lrrc56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29493581 PMID:31775759 PMID:168335863 |
|
NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
|
|
G |
Mir155 |
microRNA 155 |
|
ISO |
miRNA:increased expression:peripheral blood mononuclear cell |
RGD |
PMID:29658610 |
RGD:21081544 |
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
|
|
G |
Mir21 |
microRNA 21 |
|
ISO |
miRNA:increased expression:peripheral blood mononuclear cell |
RGD |
PMID:29658610 |
RGD:21081544 |
NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
|
|
G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
disease_progression |
ISO |
|
RGD |
PMID:20956327 |
RGD:11340590 |
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
|
|
G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
|
ISO |
ClinVar Annotator: match by term: Chronic lymphocytic leukemia |
ClinVar |
PMID:21179087 PMID:22931316 PMID:23215570 PMID:26619011 PMID:28492532 |
|
NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
|
|
G |
Nras |
NRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 |
|
NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
|
|
G |
Plcg2 |
phospholipase C, gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Chronic lymphocytic leukemia |
ClinVar |
PMID:24869598 |
|
NCBI chr19:50,039,410...50,173,543
Ensembl chr19:50,045,020...50,173,220
|
|
G |
Pon1 |
paraoxonase 1 |
susceptibility |
ISO |
DNA:missense mutations:cds:p.L55M, p.Q192R (human) |
RGD |
PMID:26254371 |
RGD:11073982 |
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
|
|
G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
ClinVar Annotator: match by term: Chronic lymphocytic leukemia |
ClinVar |
PMID:12717436 PMID:14644997 PMID:15385933 PMID:15710330 PMID:15928039 PMID:16358218 PMID:17972951 PMID:19047918 PMID:19179468 PMID:24033266 PMID:25097206 PMID:25395418 PMID:26619011 PMID:27069254 PMID:28098151 PMID:30868567 |
|
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
|
|
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 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
|
|
G |
Sf3b1 |
splicing factor 3b, subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Chronic lymphocytic leukemia |
ClinVar |
PMID:23634996 PMID:26619011 |
|
NCBI chr 9:61,594,620...61,634,510
Ensembl chr 9:61,594,620...61,634,510
|
|
G |
Sf3b2 |
splicing factor 3b, subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Chronic lymphocytic leukemia |
ClinVar |
PMID:26619011 |
|
NCBI chr 1:220,645,685...220,665,611
Ensembl chr 1:220,645,672...220,665,603
|
|
G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
protein:increased phosphorylation:peripheral blood mononuclear cell |
RGD |
PMID:29658610 |
RGD:21081544 |
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
|
|
G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Chronic lymphocytic leukemia ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1679237 PMID:1683921 PMID:1978757 PMID:2046748 PMID:2531845 PMID:2554494 PMID:2826609 PMID:7651740 PMID:7732013 PMID:7791795 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8164043 PMID:8242631 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8718514 PMID:8825920 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9825943 PMID:9839505 PMID:10064694 PMID:10411893 PMID:10519380 PMID:10761705 PMID:10797439 PMID:10864200 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12007217 PMID:12406399 PMID:12672316 PMID:12700230 PMID:12726864 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:15004724 PMID:15017592 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:18511570 PMID:18685109 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20308654 PMID: | |