RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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G |
Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
susceptibility |
ISO |
DNA:hypermethylation:promoter: |
RGD |
PMID:18426641 |
RGD:11100002 |
NCBI chr 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
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G |
Ace |
angiotensin I converting enzyme |
disease_progression |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:12781647 |
RGD:11039000 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Acsl6 |
acyl-CoA synthetase long-chain family member 6 |
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ISO |
DNA:translocation: :t(5;12)(q31;p13) (human) |
RGD |
PMID:10502316 |
RGD:1599805 |
NCBI chr10:39,654,771...39,717,592
Ensembl chr10:39,655,455...39,719,312
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Akr1c3 |
aldo-keto reductase family 1, member C3 |
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ISO |
DNA:SNP:intron:rs10508293 (human) |
RGD |
PMID:18339682 |
RGD:11541126 |
NCBI chr17:69,761,126...69,778,021
Ensembl chr17:69,761,118...69,778,021
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Alb |
albumin |
disease_progression |
ISO |
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RGD |
PMID:24182818 |
RGD:11035296 |
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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G |
Aqp9 |
aquaporin 9 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15336539 |
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NCBI chr 8:77,559,621...77,599,781
Ensembl chr 8:77,559,624...77,599,781
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Ar |
androgen receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19235587 |
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NCBI chr X:67,656,253...67,828,998
Ensembl chr X:67,656,253...67,829,026
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Atm |
ATM serine/threonine kinase |
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IMP |
DNA:deletion:exon: |
RGD |
PMID:28007901 |
RGD:12879399 |
NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
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G |
Atmem1Kyo |
ATM serine/threonine kinase; ZFN induced mutant 1, Kyo |
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IMP |
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RGD |
PMID:28007901 |
RGD:12879399 |
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Atmm1Kyo |
ATM serine/threonine kinase; ENU induced mutant 1, Kyo |
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IMP |
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RGD |
PMID:28007901 |
RGD:12879399 |
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G |
Bad |
BCL2-associated agonist of cell death |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12970779 |
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NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
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G |
Bap1 |
Brca1 associated protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25231345 |
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NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
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Bcr |
BCR activator of RhoGEF and GTPase |
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ISO |
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RGD |
PMID:11313935 |
RGD:11038780 |
NCBI chr20:14,421,250...14,546,406
Ensembl chr20:14,421,141...14,545,772
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G |
Birc2 |
baculoviral IAP repeat-containing 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12970779 |
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NCBI chr 8:6,014,014...6,036,668
Ensembl chr 8:6,013,207...6,034,142
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Birc3 |
baculoviral IAP repeat-containing 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12970779 |
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NCBI chr 8:6,048,590...6,076,828
Ensembl chr 8:6,048,969...6,076,598
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Ccnd1 |
cyclin D1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10602166 |
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NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
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Cd28 |
Cd28 molecule |
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ISO |
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RGD |
PMID:19075187 |
RGD:5131619 |
NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
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ISO |
DNA:hypermethylation |
RGD |
PMID:8631003 |
RGD:8548743 |
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
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G |
Cflar |
CASP8 and FADD-like apoptosis regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12970779 |
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NCBI chr 9:65,534,608...65,586,395
Ensembl chr 9:65,534,704...65,587,251
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Daxx |
death-domain associated protein |
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ISO |
protein:increased expression:bone marrow: |
RGD |
PMID:17306074 |
RGD:9587840 |
NCBI chr20:5,480,103...5,485,962
Ensembl chr20:5,480,103...5,485,926
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G |
Ddit4 |
DNA-damage-inducible transcript 4 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17379067 |
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NCBI chr20:29,509,283...29,511,382
Ensembl chr20:29,509,289...29,511,382
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Erg |
ETS transcription factor ERG |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19108891 |
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NCBI chr11:35,645,317...35,749,637
Ensembl chr11:35,646,116...35,749,594
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Esr1 |
estrogen receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18808365 |
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NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
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Etv6 |
ETS variant transcription factor 6 |
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ISO |
DNA:translocation: : |
RGD |
PMID:9326218 |
RGD:10450609 |
NCBI chr 4:167,754,684...167,992,370
Ensembl chr 4:167,754,525...167,992,168
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G |
Fadd |
Fas associated via death domain |
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ISO |
DNA:SNP: :rs7939734 (human) |
RGD |
PMID:22244917 |
RGD:11341800 |
NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
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Fgf1 |
fibroblast growth factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17219402 |
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NCBI chr18:32,273,830...32,359,831
Ensembl chr18:32,273,770...32,359,824
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Foxm1 |
forkhead box M1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19436953 |
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NCBI chr 4:161,685,236...161,697,633
Ensembl chr 4:161,685,258...161,696,305
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Gfi1 |
growth factor independent 1 transcriptional repressor |
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ISO |
mRNA:increased expression:bone marrow mononuclear cell: |
RGD |
PMID:20723283 |
RGD:11040452 |
NCBI chr14:3,058,035...3,073,332
Ensembl chr14:3,058,993...3,068,371
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G |
Gpx1 |
glutathione peroxidase 1 |
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ISO |
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RGD |
PMID:17205986 |
RGD:11352809 |
NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
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G |
Gstm1 |
glutathione S-transferase mu 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14694614 PMID:18505952 |
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NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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G |
Gsto1 |
glutathione S-transferase omega 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22293942 |
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NCBI chr 1:267,607,437...267,617,387
Ensembl chr 1:267,607,418...267,617,387
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G |
Gstt1 |
glutathione S-transferase theta 1 |
no_association |
ISO |
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RGD |
PMID:18414197 |
RGD:10755326 |
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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G |
Hp |
haptoglobin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16597321 |
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NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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Il2 |
interleukin 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17500047 |
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NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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G |
Irf4 |
interferon regulatory factor 4 |
disease_progression |
ISO |
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RGD |
PMID:23977280 |
RGD:11526157 |
NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
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G |
Jak2 |
Janus kinase 2 |
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ISO |
DNA:translocation: : CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19636672, PMID:9326218 |
RGD:10450609 |
NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
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G |
Kmt2a |
lysine methyltransferase 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11731795 PMID:12937054 |
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NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
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G |
Kmt2e |
lysine methyltransferase 2E |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18818388 |
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NCBI chr 4:8,187,751...8,255,578
Ensembl chr 4:8,187,751...8,255,514
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G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16412662 |
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NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
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G |
Nat2 |
N-acetyltransferase 2 |
susceptibility no_association |
ISO |
DNA:polymorphism: : |
RGD |
PMID:20884738, PMID:10383893 |
RGD:11532768, RGD:10755329 |
NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
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G |
Ncoa3 |
nuclear receptor coactivator 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19365708 PMID:19433130 |
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NCBI chr 3:162,692,176...162,788,582
Ensembl chr 3:162,692,185...162,787,548
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G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
no_association |
ISO |
DNA:mutation: :609C>T (human) ClinVar Annotator: match by term: Leukemia, post-chemotherapy, susceptibility to DNA:SNP: :609C>T (human) |
ClinVar |
PMID:1737339 PMID:6933553 PMID:9000600 PMID:9230185 PMID:9328142 PMID:9593466 PMID:9855009 PMID:10208650 PMID:10393869 PMID:10393963 PMID:11160862 PMID:18511948 PMID:21479364 PMID:21946896 PMID:21964527 PMID:22992668 PMID:24533712 PMID:25545243, PMID:11222389, PMID:15382274 |
RGD:10769349, RGD:10769351 |
NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
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Nras |
NRAS proto-oncogene, GTPase |
onset |
ISO |
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RGD |
PMID:27109513 |
RGD:11535059 |
NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
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ISO |
DNA:fusion protein, missense mutation: :p.H650Q, p.R748G (human) |
RGD |
PMID:21224473 |
RGD:11075100 |
NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
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G |
Plk1 |
polo-like kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26008977 |
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NCBI chr 1:192,115,990...192,125,969
Ensembl chr 1:192,115,966...192,125,989
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G |
Ppp1r13l |
protein phosphatase 1, regulatory subunit 13 like |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19299014 |
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NCBI chr 1:80,271,288...80,290,946
Ensembl chr 1:80,279,706...80,290,408
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Prame |
PRAME nuclear receptor transcriptional regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16179254 |
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NCBI chr X:106,082,984...106,091,256
Ensembl chr X:106,083,203...106,085,878
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Prkcz |
protein kinase C, zeta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12970779 |
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NCBI chr 5:172,658,071...172,769,492
Ensembl chr 5:172,658,748...172,769,421
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12970779 |
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NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15273746 |
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NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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G |
Setd2 |
SET domain containing 2, histone lysine methyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24509477 |
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NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
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G |
Smpd3 |
sphingomyelin phosphodiesterase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18283525 |
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NCBI chr19:38,237,963...38,321,572
Ensembl chr19:38,237,965...38,321,528
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G |
Sphk1 |
sphingosine kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18283525 |
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NCBI chr10:105,498,728...105,504,401
Ensembl chr10:105,498,728...105,504,393
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G |
Syncrip |
synaptotagmin binding, cytoplasmic RNA interacting protein |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:28436985 |
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NCBI chr 8:96,100,692...96,266,342
Ensembl chr 8:96,105,025...96,266,342
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G |
Tfpi |
tissue factor pathway inhibitor |
treatment |
ISO |
protein:decreased activity:plasma: |
RGD |
PMID:18549615, PMID:12206017 |
RGD:11060254, RGD:11060255 |
NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
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G |
Tnfsf10 |
TNF superfamily member 10 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17204177 |
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NCBI chr 2:113,008,008...113,026,899
Ensembl chr 2:113,007,549...113,026,899
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G |
Top2a |
DNA topoisomerase II alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15833037 |
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NCBI chr10:86,901,467...86,930,947
Ensembl chr10:86,901,007...86,932,154
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G |
Tp53 |
tumor protein p53 |
disease_progression |
ISO |
protein:increased expression:bone marrow: |
RGD |
PMID:26524016 |
RGD:11073730 |
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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G |
Wt1 |
WT1 transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14961577 |
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NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
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NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
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G |
Dhodh |
dihydroorotate dehydrogenase (quinone) |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
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NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
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G |
Umps |
uridine monophosphate synthetase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
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NCBI chr11:70,034,181...70,044,590
Ensembl chr11:70,034,139...70,044,628
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G |
Ddx41 |
DEAD-box helicase 41 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr17:9,631,925...9,637,317
Ensembl chr17:9,631,925...9,637,316
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G |
Erbb3 |
erb-b2 receptor tyrosine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Acute erythroleukemia |
ClinVar |
PMID:27416908 |
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NCBI chr 7:2,989,202...3,010,610
Ensembl chr 7:2,989,340...3,010,350
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G |
Flt3 |
Fms related receptor tyrosine kinase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr12:9,360,439...9,437,004
Ensembl chr12:9,360,672...9,436,570
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G |
Gfi1b |
growth factor independent 1B transcriptional repressor |
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ISO |
mRNA:increased expression:bone marrow cell: |
RGD |
PMID:17156408 |
RGD:11040507 |
NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
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G |
Hoxb9 |
homeo box B9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr10:84,119,772...84,124,963
Ensembl chr10:84,119,884...84,123,390
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G |
Kmt2a |
lysine methyltransferase 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
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G |
Npm1 |
nucleophosmin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr10:18,080,949...18,091,062
Ensembl chr10:18,080,950...18,090,950
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G |
Nup98 |
nucleoporin 98 and 96 precursor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr 1:167,213,866...167,308,851
Ensembl chr 1:167,213,866...167,308,851
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G |
Rb1 |
RB transcriptional corepressor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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G |
Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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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 |
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NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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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
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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
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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
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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 Ensembl chr 3:10,041,826...10,144,388
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|
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
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|
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
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|
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
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|
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
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|
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
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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
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|
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
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|
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
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|
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
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|
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
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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
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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
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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
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|
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
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|
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
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|
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
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|
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
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|
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
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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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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 |
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NCBI chr12:9,360,439...9,437,004
Ensembl chr12:9,360,672...9,436,570
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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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
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|
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
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|
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
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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
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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
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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
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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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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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
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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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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 |
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NCBI chr 5:29,622,347...29,656,877
Ensembl chr 5:29,622,281...29,656,864
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|
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
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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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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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
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|
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
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|
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
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|
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
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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
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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
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|
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
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|
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
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|
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
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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
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|
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
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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
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|
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
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|
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
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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
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|
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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 |
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NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388 Ensembl chr 3:10,041,826...10,144,388
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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 |
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NCBI chr14:1,456,843...1,461,543
Ensembl chr14:1,456,844...1,461,543
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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
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|
G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: LYMPHOMATOUS ALL |
ClinVar |
PMID:25705862 PMID:26619011 PMID:26942290 |
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NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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|
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
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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
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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
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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 |
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NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
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G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
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ISO |
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RGD |
PMID:21640380 |
RGD:11081147 |
NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
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G |
Apc |
APC regulator of WNT signaling pathway |
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ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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G |
Birc5 |
baculoviral IAP repeat-containing 5 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16166298 |
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NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413
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G |
Coro7 |
coronin 7 |
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ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia |
ClinVar |
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NCBI chr10:11,090,200...11,144,289
Ensembl chr10:11,090,314...11,143,881 Ensembl chr10:11,090,314...11,143,881
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G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
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ISO |
associated with Down Syndrome;DNA:mutations:multiple (human) |
RGD |
PMID:24056718 |
RGD:10450890 |
NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
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G |
Gata1 |
GATA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia |
ClinVar |
PMID:15070711 |
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NCBI chr X:15,273,937...15,281,759
Ensembl chr X:15,378,789...15,382,066 Ensembl chr X:15,378,789...15,382,066
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G |
Gfi1b |
growth factor independent 1B transcriptional repressor |
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ISO |
mRNA:increased expression:bone marrow cell: |
RGD |
PMID:17156408 |
RGD:11040507 |
NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
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G |
Jak3 |
Janus kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia |
ClinVar |
PMID:10982185 PMID:16843266 PMID:18270328 PMID:18397343 PMID:20132407 PMID:20372971 PMID:20385788 PMID:20400977 PMID:21599579 PMID:21821710 PMID:22271575 PMID:24728327 PMID:25157968 PMID:28492532, PMID:16843266 |
RGD:11531113 |
NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
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G |
Mdga1 |
MAM domain containing glycosylphosphatidylinositol anchor 1 |
|
ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia |
ClinVar |
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NCBI chr20:8,515,142...8,574,632
Ensembl chr20:8,515,142...8,574,082
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G |
Mrtfa |
myocardin related transcription factor A |
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ISO |
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RGD |
PMID:11431691 |
RGD:1599948 |
NCBI chr 7:122,233,196...122,403,661
Ensembl chr 7:122,234,012...122,403,667
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G |
Mt-nd6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia |
ClinVar |
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NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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G |
Pcf11 |
PCF11 cleavage and polyadenylation factor subunit |
|
ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia |
ClinVar |
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NCBI chr 1:157,463,014...157,494,134
Ensembl chr 1:157,468,626...157,494,008
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G |
Prame |
PRAME nuclear receptor transcriptional regulator |
|
ISO |
associated with Down Syndrome;mRNA:increased expression:mononuclear cell (human) |
RGD |
PMID:15180862 |
RGD:11535064 |
NCBI chr X:106,082,984...106,091,256
Ensembl chr X:106,083,203...106,085,878
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G |
Pten |
phosphatase and tensin homolog |
|
ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia |
ClinVar |
PMID:10848731 PMID:17941496 PMID:20600018 PMID:21194675 PMID:21343951 PMID:21659347 PMID:22281088 PMID:22520842 PMID:23335809 PMID:23475934 PMID:23886400 PMID:24778394 PMID:26376867 PMID:28492532 PMID:29663862 |
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NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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G |
Rasal3 |
RAS protein activator like 3 |
|
ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia |
ClinVar |
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NCBI chr 7:14,403,592...14,419,570
Ensembl chr 7:14,403,592...14,418,950
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G |
Runx1 |
RUNX family transcription factor 1 |
onset |
ISO |
|
RGD |
PMID:15856017 |
RGD:11251701 |
NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
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G |
Slc9a2 |
solute carrier family 9 member A2 |
|
ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia |
ClinVar |
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NCBI chr 9:47,386,581...47,491,813
Ensembl chr 9:47,386,626...47,491,907
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G |
Sncb |
synuclein, beta |
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ISO |
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RGD |
PMID:21264917 |
RGD:6478703 |
NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
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G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia |
ClinVar |
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NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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G |
Dnmt3a |
DNA methyltransferase 3 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399634 |
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NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
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G |
Kmt2a |
lysine methyltransferase 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8282816 |
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NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
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G |
Mllt10 |
MLLT10, histone lysine methyltransferase DOT1L cofactor |
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ISO |
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RGD |
PMID:7662954 |
RGD:1598771 |
NCBI chr17:84,847,660...84,981,134
Ensembl chr17:84,881,414...84,979,543
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G |
Nf1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Acute monocytic leukemia |
ClinVar |
PMID:23407919 PMID:25741868 PMID:28492532 |
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NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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G |
Stk11 |
serine/threonine kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Acute monocytic leukemia |
ClinVar |
PMID:25117502 PMID:25741868 PMID:25980754 PMID:26467025 PMID:28492532 |
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NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
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G |
Abcc3 |
ATP binding cassette subfamily C member 3 |
disease_progression |
ISO |
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RGD |
PMID:26512967 |
RGD:11081145 |
NCBI chr10:82,047,308...82,116,928
Ensembl chr10:82,047,863...82,117,109
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G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
disease_progression treatment |
ISO |
|
RGD |
PMID:26512967, PMID:12145683 |
RGD:11081145, RGD:11099971 |
NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
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G |
Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
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ISO |
DNA:translocation: : |
RGD |
PMID:12161353 |
RGD:10450603 |
NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388 Ensembl chr 3:10,041,826...10,144,388
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G |
Acsl6 |
acyl-CoA synthetase long-chain family member 6 |
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ISO |
DNA:translocation: :t(5;12)(q31;p13) (human) |
RGD |
PMID:10502316 |
RGD:1599805 |
NCBI chr10:39,654,771...39,717,592
Ensembl chr10:39,655,455...39,719,312
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G |
Adcy7 |
adenylate cyclase 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr19:19,702,307...19,762,973
Ensembl chr19:19,704,859...19,727,081
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G |
Agrn |
agrin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 5:173,589,910...173,622,813
Ensembl chr 5:173,589,819...173,622,645
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G |
Alk |
ALK receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
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G |
Anapc2 |
anaphase promoting complex subunit 2 |
|
ISO |
mRNA:increased expression:blood (human) |
RGD |
PMID:26046517 |
RGD:11067888 |
NCBI chr 3:2,490,496...2,502,247
Ensembl chr 3:2,490,518...2,502,248
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G |
Anxa2 |
annexin A2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 8:75,687,134...75,723,589
Ensembl chr 8:75,687,100...75,723,594
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G |
Anxa4 |
annexin A4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 4:118,538,775...118,595,591
Ensembl chr 4:118,538,777...118,595,580
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G |
Anxa5 |
annexin A5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
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G |
Anxa6 |
annexin A6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr10:40,320,581...40,375,605
Ensembl chr10:40,320,581...40,375,605
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G |
Aqp9 |
aquaporin 9 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16968895 |
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NCBI chr 8:77,559,621...77,599,781
Ensembl chr 8:77,559,624...77,599,781
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G |
Arid4a |
AT-rich interaction domain 4A |
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ISS |
OMIM:601626 |
MouseDO |
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NCBI chr 6:93,461,713...93,532,901
Ensembl chr 6:93,461,713...93,532,901
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G |
Asmtl |
acetylserotonin O-methyltransferase-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr12:18,532,090...18,534,761
Ensembl chr12:18,531,990...18,534,836
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G |
Asxl1 |
ASXL transcriptional regulator 1 |
disease_progression |
ISO ISS |
DNA:mutations:exon: OMIM:601626 |
MouseDO |
PMID:20693432 |
RGD:11038706 |
NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
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G |
Asxl2 |
ASXL transcriptional regulator 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27798625 |
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NCBI chr 6:27,835,346...27,919,285
Ensembl chr 6:27,887,797...27,915,563
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G |
Atg2b |
autophagy related 2B |
|
ISO |
ClinVar Annotator: match by term: Leukemia, acute myeloid |
ClinVar |
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NCBI chr 6:129,449,451...129,519,599
Ensembl chr 6:129,449,449...129,509,720
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G |
Atp1b1 |
ATPase Na+/K+ transporting subunit beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr13:82,737,161...82,757,681
Ensembl chr13:82,737,159...82,758,004
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G |
Baalc |
BAALC binder of MAP3K1 and KLF4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19822134 |
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NCBI chr 7:77,761,056...77,836,534
Ensembl chr 7:77,763,512...77,837,453
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G |
Bach2 |
BTB domain and CNC homolog 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21441929 |
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NCBI chr 5:47,458,891...47,807,176
Ensembl chr 5:47,546,014...47,807,166
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G |
Bcl2 |
BCL2, apoptosis regulator |
susceptibility severity |
ISO |
DNA:snp:promoter:g.-938C>A (human) CTD Direct Evidence: marker/mechanism DNA:snp:exon:c.+21A>G (rs1801018) (human) ratio with Flt3, Kit;mRNA:decreased expression:mononuclear cell (human) |
CTD |
PMID:23906301, PMID:25957891, PMID:19520430, PMID:25216797 |
RGD:11526107, RGD:11526111, RGD:11526109 |
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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G |
Bcl2l1 |
Bcl2-like 1 |
severity |
ISO |
mRNA:increased expression:peripheral blood, bone marrow, blast cell (human) |
RGD |
PMID:11410409 |
RGD:11353851 |
NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
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G |
Bdkrb1 |
bradykinin receptor B1 |
|
ISO |
ClinVar Annotator: match by term: Leukemia, acute myeloid |
ClinVar |
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NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
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G |
Bdkrb2 |
bradykinin receptor B2 |
|
ISO |
ClinVar Annotator: match by term: Leukemia, acute myeloid |
ClinVar |
|
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NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
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G |
Bmi1 |
BMI1 proto-oncogene, polycomb ring finger |
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ISO |
|
RGD |
PMID:16105758 |
RGD:1580059 |
NCBI chr17:85,360,439...85,370,283
Ensembl chr17:85,364,483...85,368,208
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G |
Brca2 |
BRCA2, DNA repair associated |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:15766593 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29021639 |
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NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
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G |
Brd4 |
bromodomain containing 4 |
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ISO |
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RGD |
PMID:21814200 |
RGD:9586350 |
NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
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G |
Brd7 |
bromodomain containing 7 |
susceptibility |
ISO |
mRNA:increased expression:bone marrow: DNA:haplotype:cds:737A>G,495C>T(human) |
RGD |
PMID:18772500, PMID:18772500 |
RGD:9586443, RGD:9586443 |
NCBI chr19:19,672,780...19,701,484
Ensembl chr19:19,672,856...19,701,484
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G |
Btg1 |
BTG anti-proliferation factor 1 |
disease_progression |
ISO |
|
RGD |
PMID:15449376 |
RGD:1549463 |
NCBI chr 7:37,812,831...37,815,088
Ensembl chr 7:37,812,831...37,815,088
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G |
Calr |
calreticulin |
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ISO |
mRNA:increased expression:peripheral blood (human) |
RGD |
PMID:26640226 |
RGD:11076986 |
NCBI chr19:25,956,771...25,961,666
Ensembl chr19:25,956,771...25,961,666
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G |
Capg |
capping actin protein, gelsolin like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr 4:100,395,693...100,419,447
Ensembl chr 4:100,407,658...100,419,446
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G |
Capn2 |
calpain 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr13:100,878,649...100,928,811
Ensembl chr13:100,878,650...100,928,811
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G |
Casp7 |
caspase 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 1:277,190,557...277,242,779
Ensembl chr 1:277,190,964...277,242,774
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G |
Cbfb |
core-binding factor subunit beta |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:18206229 PMID:25741868 PMID:27798625 |
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NCBI chr19:37,127,508...37,171,075
Ensembl chr19:37,127,508...37,171,069
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G |
Cbl |
Cbl proto-oncogene |
disease_progression |
ISO |
associated with Myelodysplastic Syndromes;DNA:mutations:exons: |
RGD |
PMID:22131879 |
RGD:11038796 |
NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:25382729, PMID:17822317 |
RGD:11528532, RGD:11528537 |
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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G |
Ccna1 |
cyclin A1 |
|
ISO |
protein:increased expression:leukocyte (human) |
RGD |
PMID:10068680 |
RGD:2316304 |
NCBI chr 2:144,456,689...144,503,570
Ensembl chr 2:144,458,153...144,467,912
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G |
Ccnd1 |
cyclin D1 |
treatment |
ISO |
mRNA:increased expression:bone marrow (human) human tumor in a mouse model |
RGD |
PMID:22391157, PMID:21928377 |
RGD:11352824, RGD:11353789 |
NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
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G |
Ccnd2 |
cyclin D2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27798625 |
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NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
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G |
Cd33 |
CD33 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12921496 |
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NCBI chr 1:98,388,811...98,403,539
Ensembl chr 1:98,398,660...98,402,968
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G |
Cd44 |
CD44 molecule (Indian blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23098472 |
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NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
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G |
Cd86 |
CD86 molecule |
severity |
ISO |
protein:increased expression:mononuclear cell of bone marrow (human) |
RGD |
PMID:19197726, PMID:16115907 |
RGD:4892295, RGD:11354960 |
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
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G |
Cd9 |
CD9 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr 4:157,977,163...158,010,091
Ensembl chr 4:157,977,162...158,010,166
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G |
Cdh1 |
cadherin 1 |
disease_progression |
ISO |
DNA:hypermethylation:promoter: |
RGD |
PMID:15863205 |
RGD:11252161 |
NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
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G |
Cdk6 |
cyclin-dependent kinase 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr 4:27,781,728...27,969,653
Ensembl chr 4:27,785,647...27,966,398
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G |
Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
|
ISO |
DNA:deletion: : |
RGD |
PMID:9171997 |
RGD:10450601 |
NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
disease_progression |
ISO |
DNA:deletion: : mRNA,protein:altered expression:bone marrow: |
RGD |
PMID:11064355, PMID:11697625 |
RGD:11251749, RGD:11252080 |
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
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G |
Cdkn2a_v1 |
cyclin-dependent kinase inhibitor 2A, variant 1 |
|
ISO |
mRNA,protein:altered expression:bone marrow: |
RGD |
PMID:11697625 |
RGD:11252080 |
|
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G |
Cdkn2a_v2 |
cyclin-dependent kinase inhibitor 2A, variant 2 |
|
ISO |
mRNA,protein:altered expression:bone marrow: |
RGD |
PMID:11697625 |
RGD:11252080 |
|
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G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
susceptibility treatment disease_progression |
ISO |
DNA:hypermethylation: : mRNA:decreased expression:granulocyte,monocyte: DNA:hypermethylation:promoter: DNA:deletion: : |
RGD |
PMID:25616284, PMID:9001419, PMID:14681685, PMID:27168825, PMID:15863205, PMID:11064355 |
RGD:11251739, RGD:11252196, RGD:11252167, RGD:11252164, RGD:11252161, RGD:11251749 |
NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104
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G |
Cebpa |
CCAAT/enhancer binding protein alpha |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar Annotator: match by term: Acute myelogenous leukemia CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: AML - Acute myeloid leukemia ClinVar Annotator: match by OMIM:601626 |
OMIM ClinVar CTD |
PMID:11242107 PMID:12661007 PMID:12692518 PMID:14726504 PMID:15575056 PMID:18768433 PMID:18987666 PMID:19731081 PMID:19822134 PMID:23926458 PMID:24220272 PMID:24728327 PMID:25741868 PMID:26162409 PMID:26721895 PMID:27005833 PMID:28250006 PMID:28492532 PMID:29296967 PMID:30420649 |
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NCBI chr 1:91,363,492...91,366,164
Ensembl chr 1:91,363,492...91,366,164
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G |
Cebpd |
CCAAT/enhancer binding protein delta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17234736 |
|
NCBI chr11:89,008,008...89,009,146
Ensembl chr11:89,008,008...89,009,146
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G |
Cfhr1 |
complement factor H-related 1 |
susceptibility |
ISO |
DNA:deletion: : |
RGD |
PMID:26317246 |
RGD:11341662 |
NCBI chr13:56,862,666...56,877,650
Ensembl chr13:56,836,994...56,877,650
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G |
Cflar |
CASP8 and FADD-like apoptosis regulator |
disease_progression |
ISO |
|
RGD |
PMID:23167276 |
RGD:11341679 |
NCBI chr 9:65,534,608...65,586,395
Ensembl chr 9:65,534,704...65,587,251
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G |
Chi3l1 |
chitinase 3 like 1 |
severity |
ISO |
protein:increased secretion:serum (human) |
RGD |
PMID:16361549 |
RGD:4892644 |
NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
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G |
Chic2 |
cysteine-rich hydrophobic domain 2 |
|
ISO |
|
OMIM |
|
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NCBI chr14:35,683,657...35,718,005
Ensembl chr14:35,683,442...35,717,922
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G |
Chmp5 |
charged multivesicular body protein 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17708794 |
|
NCBI chr 5:57,267,312...57,284,455
Ensembl chr 5:57,267,312...57,284,448
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G |
Cnr2 |
cannabinoid receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15039279 |
|
NCBI chr 5:154,242,010...154,268,126
Ensembl chr 5:154,260,062...154,268,126
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G |
Crebbp |
CREB binding protein |
|
ISO ISS |
DNA:translocations:intron:IVS2 (human) OMIM:601626 |
MouseDO |
PMID:12461753 |
RGD:734819 |
NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
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G |
Csf1r |
colony stimulating factor 1 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1390197 |
|
NCBI chr18:56,414,493...56,458,300
Ensembl chr18:56,414,488...56,458,300
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G |
Csf2 |
colony stimulating factor 2 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21441929, PMID:1826536 |
RGD:10449528 |
NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
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G |
Csf3 |
colony stimulating factor 3 |
treatment |
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7528855, PMID:10673519 |
RGD:11039033 |
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
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G |
Csf3r |
colony stimulating factor 3 receptor |
disease_progression susceptibility |
ISO |
ClinVar Annotator: match by term: Acute myelocytic leukemia associated with Severe Congenital Neutropenia;DNA:nonsense mutation:cds: |
ClinVar |
PMID:23604229 PMID:23634996 PMID:23656643 PMID:24081659 PMID:24403076 PMID:24614839 PMID:24854193 PMID:25491280 PMID:25741868 PMID:25932451 PMID:26875968 PMID:27148573 PMID:27581359 PMID:28209919 PMID:28219221 PMID:28492532 PMID:28762112 PMID:30967555, PMID:24746896, PMID:9001427, PMID:21911095 |
RGD:10450468, RGD:10450487, RGD:10450470 |
NCBI chr 5:144,031,353...144,051,966
Ensembl chr 5:144,031,402...144,051,600
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G |
Cst3 |
cystatin C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
DNA:SNP:3'UTR:rs3087243(human) |
RGD |
PMID:19092854 |
RGD:11344911 |
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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G |
Ctnna1 |
catenin alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr18:27,923,229...28,055,972
Ensembl chr18:27,923,572...28,055,960
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G |
Ctsh |
cathepsin H |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 8:97,439,155...97,458,293
Ensembl chr 8:97,439,161...97,458,287
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G |
Ctsz |
cathepsin Z |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 3:172,527,107...172,537,877
Ensembl chr 3:172,527,107...172,537,877
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G |
Cxcr4 |
C-X-C motif chemokine receptor 4 |
treatment disease_progression |
ISO |
|
RGD |
PMID:26031918, PMID:24035716 |
RGD:11352265, RGD:11352273 |
NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
disease_progression no_association |
ISO |
DNA:SNP: :6235T>C (human) DNA:polymorphism: :6235T>C (human) DNA:SNP: :4889A>G (human) |
RGD |
PMID:19456854, PMID:15996939, PMID:19456854 |
RGD:10769358, RGD:11352736, RGD:10769358 |
NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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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
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G |
Cyp2d4 |
cytochrome P450, family 2, subfamily d, polypeptide 4 |
susceptibility treatment |
ISO |
DNA:polymorphisms: : DNA:SNP: :(rs16947)(human) |
RGD |
PMID:11037802, PMID:21518482 |
RGD:11352820, RGD:11352828 |
NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
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G |
Dapk1 |
death associated protein kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19874806 |
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NCBI chr17:4,297,038...4,454,941
Ensembl chr17:4,297,224...4,454,778
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G |
Ddx41 |
DEAD-box helicase 41 |
|
ISO |
ClinVar Annotator: match by term: Leukemia, acute myeloid ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:25741868 PMID:25920683 PMID:26712909 |
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NCBI chr17:9,631,925...9,637,317
Ensembl chr17:9,631,925...9,637,316
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G |
Dhx15 |
DEAH-box helicase 15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27798625 PMID:29163777 |
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NCBI chr14:61,136,740...61,174,880
Ensembl chr14:61,136,746...61,174,880
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G |
Dlec1 |
DLEC1 cilia and flagella associated protein |
treatment |
ISO |
DNA:hypermethylation:promoter: |
RGD |
PMID:27168825 |
RGD:11252164 |
NCBI chr 8:127,788,919...127,835,986
Ensembl chr 8:127,789,048...127,834,637
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G |
Dnmt1 |
DNA methyltransferase 1 |
|
ISO |
mRNA:increased expression:CD34+ bone marrow cells |
RGD |
PMID:11222358 |
RGD:9588667 |
NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
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G |
Dnmt3a |
DNA methyltransferase 3 alpha |
disease_progression susceptibility treatment |
ISO |
mRNA:increased expression:CD34+ bone marrow cells ClinVar Annotator: match by term: Acute myeloid leukemia DNA:missense mutation:exon:p.R882 (human) associated with Myelodysplastic Syndromes; DNA:mutations:cds: DNA:hypomethylation: : DNA:mutation:: |
ClinVar OMIM |
PMID:21067377 PMID:21518476 PMID:22160010 PMID:22722925 PMID:22744846 PMID:22898539 PMID:22898540 PMID:22898541 PMID:24606448 PMID:24622842 PMID:24656771 PMID:25741868 PMID:26619011 PMID:26876596 PMID:27991732 PMID:28432085 PMID:28492532 PMID:28941052 PMID:32581362, PMID:11222358, PMID:24512939, PMID:21415852, PMID:26242829, PMID:25609058, PMID:22291079 |
RGD:9588667, RGD:11041123, RGD:11041122, RGD:11041121, RGD:11041120, RGD:9589067 |
NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
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G |
Dnmt3b |
DNA methyltransferase 3 beta |
susceptibility disease_progression |
ISO |
mRNA:increased expression:CD34+ bone marrow cells DNA:SNP:promoter: C>T46359(human) DNA:SNPs,haplotype: :rs1569686,rs2424908, rs6087990, rs6119954(human) |
RGD |
PMID:11222358, PMID:16194411, PMID:24069326, PMID:23251566 |
RGD:9588667, RGD:9589108, RGD:9589103, RGD:9589071 |
NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
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G |
Ehd3 |
EH-domain containing 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 6:25,076,012...25,102,457
Ensembl chr 6:25,074,955...25,100,977
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G |
Ehmt2 |
euchromatic histone lysine methyltransferase 2 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24532712, PMID:24532712 |
RGD:9589168 |
NCBI chr20:4,576,033...4,592,980
Ensembl chr20:4,576,057...4,592,980
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G |
Eif4ebp1 |
eukaryotic translation initiation factor 4E binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19458359 |
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NCBI chr16:68,954,860...68,968,248
Ensembl chr16:68,954,875...68,968,248
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G |
Enah |
ENAH, actin regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26237430 |
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NCBI chr13:100,297,421...100,415,335
Ensembl chr13:100,300,054...100,414,226
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G |
Eno2 |
enolase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047 Ensembl chr 9:157,285,179...157,294,047
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G |
Ephx1 |
epoxide hydrolase 1 |
no_association |
ISO |
DNA:SNPs:exon:rs1051740, rs2234922 (human) CTD Direct Evidence: marker/mechanism DNA:missense mutations:exon:p.Y113H, p.H139R (human) DNA:polymorphism |
CTD |
PMID:29605894, PMID:22200898, PMID:11849215, PMID:20731606 |
RGD:11252114, RGD:11252119, RGD:11252115 |
NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
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G |
Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
treatment no_association |
ISO |
DNA:polymorphism: :p.R399Q (human) DNA:SNP: :p.Q504K (human) |
RGD |
PMID:18604718, PMID:23397959, PMID:16507781, PMID:20141440, PMID:21942242 |
RGD:11252170, RGD:11252193, RGD:11252179, RGD:11252173, RGD:11252171 |
NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
disease_progression no_association |
ISO |
DNA:polymorphism: :p.K751Q (rs13181) (human) DNA:SNPs, haplotypes: :p.D312N, p.K751Q (human) associated with Myeloproliferative Disorders;DNA:polymorphism: :p.K751Q (rs13181) (human) |
RGD |
PMID:20141440, PMID:21394217, PMID:22496165, PMID:23397959 |
RGD:11252173, RGD:11252209, RGD:11252198, RGD:11252193 |
NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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G |
Erg |
ETS transcription factor ERG |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19822134 |
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NCBI chr11:35,645,317...35,749,637
Ensembl chr11:35,646,116...35,749,594
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G |
Etv6 |
ETS variant transcription factor 6 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia DNA:translocation: : DNA:deletion: : DNA:translocation: :t(5;12)(q31;p13) (human) ClinVar Annotator: match by term: Leukemia, acute myeloid, UMLS MESH term: Acute Myelogenous Leukemia |
OMIM ClinVar |
PMID:15806161 PMID:25581430 PMID:25807284 PMID:31248877, PMID:12161353, PMID:9171997, PMID:10502316 |
RGD:10450603, RGD:10450601, RGD:1599805 |
NCBI chr 4:167,754,684...167,992,370
Ensembl chr 4:167,754,525...167,992,168
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G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
disease_progression susceptibility |
ISO |
mRNA:increased expression:bone marrow, mononuclear cell (human) DNA:mutations:cds:multiple (human) |
RGD |
PMID:22677129, PMID:21125401, PMID:23099237 |
RGD:10450874, RGD:10450887, RGD:10450876 |
NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
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G |
F3 |
coagulation factor III, tissue factor |
|
ISO |
|
RGD |
PMID:2617479 |
RGD:11340207 |
NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
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G |
Fadd |
Fas associated via death domain |
disease_progression |
ISO |
|
RGD |
PMID:15520222 |
RGD:11341799 |
NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
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G |
Fanca |
FA complementation group A |
|
ISO |
DNA, mRNA:deletions, decreased expression: :multiple |
RGD |
PMID:14749703 |
RGD:11344889 |
NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
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G |
Fancc |
FA complementation group C |
susceptibility |
ISO |
DNA:polymorphism:cds:p.S26F (human) |
RGD |
PMID:12670332 |
RGD:11046259 |
NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
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G |
Fas |
Fas cell surface death receptor |
susceptibility |
ISO |
DNA:polymorphism, haplotype:promoter:-1377 G>A, -670 G>A (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7579353, PMID:12907599, PMID:8870373 |
RGD:11049150, RGD:11049452 |
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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G |
Fermt2 |
FERM domain containing kindlin 2 |
disease_progression |
ISO |
|
RGD |
PMID:22391155 |
RGD:11352307 |
NCBI chr15:19,807,806...19,876,557
Ensembl chr15:19,807,808...19,876,408
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G |
Fermt3 |
FERM domain containing kindlin 3 |
disease_progression |
ISO |
|
RGD |
PMID:22391155 |
RGD:11352307 |
NCBI chr 1:222,254,183...222,272,775
Ensembl chr 1:222,254,184...222,272,285
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
treatment |
ISO |
|
RGD |
PMID:27005999, PMID:23777766, PMID:22683780 |
RGD:11352310, RGD:11352670, RGD:11352665 |
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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G |
Fhl2 |
four and a half LIM domains 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr 9:49,920,611...49,994,906
Ensembl chr 9:49,920,854...49,950,093
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G |
Flt3 |
Fms related receptor tyrosine kinase 3 |
treatment disease_progression |
ISO |
ClinVar Annotator: match by term: Leukemia, acute myeloid, reduced survival in, somatic CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leukemia, acute myelogenous ClinVar Annotator: match by term: Acute myeloid leukemia DNA:missense mutation:exon:p.D835Y,D835H(human) DNA:mutations:cds: DNA:duplication mutation:cds: mRNA,protein:increased expression:bone marrow: ClinVar Annotator: match by term: Leukemia, acute myeloid, UMLS MESH term: Acute Myelogenous Leukemia |
ClinVar CTD OMIM |
PMID:11091200 PMID:11290608 PMID:11442493 PMID:12384447 PMID:14604974 PMID:14670924 PMID:14737077 PMID:15256420 PMID:15374878 PMID:15625552 PMID:15667533 PMID:15863200 PMID:16091740 PMID:16371029 PMID:16410449 PMID:16573742 PMID:16857985 PMID:16990784 PMID:17047150 PMID:17050201 PMID:17184839 PMID:17387224 PMID:17606455 PMID:17889720 PMID:17942876 PMID:19602710 PMID:19657110 PMID:19822134 PMID:19840437 PMID:20733134 PMID:21441929 PMID:21482694 PMID:21928377 PMID:22368270 PMID:22409268 PMID:22504183 PMID:22504184 PMID:22504185 PMID:22504186 PMID:23036488 PMID:23261068 PMID:23321257 PMID:23430109 PMID:23714533 PMID:23783394 PMID:23878140 PMID:23906301 PMID:24046014 PMID:24526162 PMID:24619500 PMID:25053825 PMID:25157968 PMID:27099147 PMID:27992414, PMID:11290608, PMID:11442493, PMID:23969938, PMID:24184354, PMID:16642044, PMID:8562934 |
RGD:1598955, RGD:11049497, RGD:11049482, RGD:11049471, RGD:11049467, RGD:11049466 |
NCBI chr12:9,360,439...9,437,004
Ensembl chr12:9,360,672...9,436,570
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G |
Foxo1 |
forkhead box O1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr 2:141,451,234...141,527,016
Ensembl chr 2:141,451,234...141,527,016
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G |
Fxyd6 |
FXYD domain-containing ion transport regulator 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr 8:49,676,520...49,703,419
Ensembl chr 8:49,676,540...49,703,419
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G |
Gas2l1 |
growth arrest-specific 2 like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr14:85,308,443...85,318,475
Ensembl chr14:85,308,443...85,318,194
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G |
Gata1 |
GATA binding protein 1 |
disease_progression |
ISO |
|
RGD |
PMID:7579412 |
RGD:10450754 |
NCBI chr X:15,273,937...15,281,759
Ensembl chr X:15,378,789...15,382,066 Ensembl chr X:15,378,789...15,382,066
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G |
Gata2 |
GATA binding protein 2 |
disease_progression |
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to CTD Direct Evidence: marker/mechanism mRNA:decreased expression:CD34+ bone marrow cell: |
OMIM ClinVar CTD |
PMID:20040766 PMID:21242295 PMID:21670465 PMID:21765025 PMID:21892158 PMID:21892162 PMID:22147895 PMID:23365458 PMID:25676417 PMID:25741868 PMID:28166811 PMID:28492532, PMID:22786876, PMID:24514424, PMID:25241285 |
RGD:11049515, RGD:11049514, RGD:11049510 |
NCBI chr 4:120,129,028...120,142,490
Ensembl chr 4:120,133,713...120,142,488
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Gfi1 |
growth factor independent 1 transcriptional repressor |
susceptibility |
ISO |
DNA:SNP:cds:c.107G>A(rs34631763)(human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099, PMID:20075157 |
RGD:11040450 |
NCBI chr14:3,058,035...3,073,332
Ensembl chr14:3,058,993...3,068,371
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G |
Gfi1b |
growth factor independent 1B transcriptional repressor |
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ISO |
mRNA:increased expression:bone marrow cell: |
RGD |
PMID:17156408 |
RGD:11040507 |
NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
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G |
Gpatch1 |
G patch domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,529,096...91,578,032
Ensembl chr 1:91,529,112...91,578,048
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G |
Gpi |
glucose-6-phosphate isomerase |
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ISO |
protein:increased expression:plasma: |
RGD |
PMID:6589021 |
RGD:11051848 |
NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
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G |
Gpx1 |
glutathione peroxidase 1 |
disease_progression treatment susceptibility |
ISO |
DNA:SNP: :c.599C>T (rs1050450) (human) DNA:polymorphism: :p.P198L (human) |
RGD |
PMID:26950655, PMID:22930375, PMID:26823947 |
RGD:11061784, RGD:11352817, RGD:11061561 |
NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
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G |
Gskip |
GSK3B interacting protein |
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ISO |
ClinVar Annotator: match by term: Leukemia, acute myeloid |
ClinVar |
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NCBI chr 6:129,512,950...129,536,320
Ensembl chr 6:129,519,709...129,536,221
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G |
Gsr |
glutathione-disulfide reductase |
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ISO |
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RGD |
PMID:24191316 |
RGD:11059506 |
NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
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G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility disease_progression |
ISO |
DNA:methylation: : DNA:deletion: : (human) |
RGD |
PMID:11488937, PMID:22924777, PMID:18035413 |
RGD:10450822, RGD:10755405, RGD:10755318 |
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
chemotherapy-induced; DNA:polymorphism:cds:p.I105V(human) |
RGD |
PMID:11553769, PMID:11906705, PMID:21729529 |
RGD:10755420, RGD:10755328, RGD:10755422 |
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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G |
Gstt1 |
glutathione S-transferase theta 1 |
no_association disease_progression susceptibility |
ISO |
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RGD |
PMID:9164324, PMID:18035413, PMID:11488937 |
RGD:10450779, RGD:10755318, RGD:10450822 |
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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G |
Gtf2i |
general transcription factor II I |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr12:25,410,804...25,487,970
Ensembl chr12:25,411,207...25,488,156
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G |
H1f0 |
H1.0 linker histone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 7:120,260,776...120,262,636
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G |
H1f2 |
H1.2 linker histone, cluster member |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr17:43,638,938...43,640,445
Ensembl chr17:43,639,749...43,640,387
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G |
Hgf |
hepatocyte growth factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22683780 |
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NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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G |
Hmox1 |
heme oxygenase 1 |
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IEP |
mRNA:increased expression:brain, spleen |
RGD |
PMID:19268504 |
RGD:10755700 |
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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G |
Hoxa9 |
homeobox A9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22541086 |
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NCBI chr 4:82,191,804...82,199,025
Ensembl chr 4:82,192,963...82,194,927
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G |
Hras |
HRas proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Leukemia, acute myelogenous ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar Annotator: match by term: Acute myelocytic leukemia ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:168335863 |
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NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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G |
Hspb1 |
heat shock protein family B (small) member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
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G |
Id2 |
inhibitor of DNA binding 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 6:44,360,077...44,361,908
Ensembl chr 6:44,348,501...44,363,915
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G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
disease_progression |
ISO |
DNA:mutation:cds:p.R132(human) ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar Annotator: match by term: Acute myelogenous leukemia CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leukemia, acute myelogenous DNA:SNP::105C>T (rs11554137)(human) |
ClinVar CTD |
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:25324972 PMID:25741868 PMID:26619011 PMID:27992414 PMID:27993330 PMID:29950729, PMID:20368543, PMID:25324972 |
RGD:11522718, RGD:11522721 |
NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
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G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
disease_progression |
ISO |
DNA:mutation:cds:p.R172(human) ClinVar Annotator: match by term: Acute myelogenous leukemia CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar Annotator: match by term: Leukemia, acute myelogenous DNA:mutation:cds:p.R140 (human) |
ClinVar CTD |
PMID:20171147 PMID:20847235 PMID:20946881 PMID:21250968 PMID:21596855 PMID:21889589 PMID:21997850 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22616558 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24606448 PMID:25157968 PMID:25324972 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:27992414 PMID:28492532, PMID:20368543, PMID:25324972 |
RGD:11522718, RGD:11522721 |
NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
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G |
Ifi30 |
IFI30, lysosomal thiol reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr16:20,426,566...20,430,772
Ensembl chr16:20,426,566...20,430,752
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G |
Il10 |
interleukin 10 |
disease_progression |
ISO |
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RGD |
PMID:23357299 |
RGD:11046264 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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G |
Il1a |
interleukin 1 alpha |
treatment |
ISO |
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RGD |
PMID:2460157 |
RGD:11051965 |
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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G |
Il4r |
interleukin 4 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11918534 |
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NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
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G |
Il6 |
interleukin 6 |
disease_progression treatment |
ISO |
human protein in a rat model |
RGD |
PMID:23357299, PMID:8892684 |
RGD:11046264, RGD:11062010 |
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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G |
Inpp4b |
inositol polyphosphate-4-phosphatase type II B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29415082 |
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NCBI chr19:29,592,889...30,341,528
Ensembl chr19:29,597,905...29,968,424
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G |
Insl6 |
insulin-like 6 |
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ISO |
ClinVar Annotator: match by term: Leukemia, acute myeloid ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:32581362 |
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NCBI chr 1:247,473,292...247,476,827
Ensembl chr 1:247,473,292...247,476,827
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G |
Itgav |
integrin subunit alpha V |
treatment |
ISO |
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RGD |
PMID:23770013 |
RGD:10755448 |
NCBI chr 3:71,113,269...71,205,958
Ensembl chr 3:71,114,100...71,202,411
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G |
Itgb3 |
integrin subunit beta 3 |
treatment |
ISO |
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RGD |
PMID:23770013, PMID:23770013 |
RGD:10755448, RGD:10755448 |
NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
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G |
Jak1 |
Janus kinase 1 |
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ISO |
ClinVar Annotator: match by term: Leukemia, acute myelogenous |
ClinVar |
PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:21436584 PMID:21680795 |
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NCBI chr 5:119,982,503...120,091,452
Ensembl chr 5:119,982,943...120,083,904
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G |
Jak2 |
Janus kinase 2 |
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ISO |
ClinVar Annotator: match by term: Acute myelogenous leukemia CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leukemia, acute myeloid, UMLS MESH term: Acute Myelogenous Leukemia |
OMIM ClinVar CTD |
PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:32581362 |
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NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
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G |
Kat6a |
lysine acetyltransferase 6A |
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ISO |
human gene in a mouse model;DNA:translocation:exon |
RGD |
PMID:12676584 |
RGD:9590334 |
NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005
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G |
Kit |
KIT proto-oncogene receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Acute myelocytic leukemia ClinVar Annotator: match by term: Acute myeloid leukemia |
OMIM ClinVar |
PMID:7479840 PMID:7513208 PMID:7691885 PMID:8589724 PMID:9657776 PMID:9827716 PMID:9990072 PMID:11380399 PMID:11493470 PMID:15685537 PMID:15790786 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16741525 PMID:16912224 PMID:17259998 PMID:17699867 PMID:18024392 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19865100 PMID:21642685 PMID:21689725 PMID:22504184 PMID:22932406 PMID:23149070 PMID:23582185 PMID:23714533 PMID:24045550 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 |
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NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
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G |
Klf1 |
Kruppel like factor 1 |
disease_progression |
ISO |
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RGD |
PMID:19097174 |
RGD:10769344 |
NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
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G |
Kmt2a |
lysine methyltransferase 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10339604 PMID:26237430, PMID:8361504 |
RGD:1625285 |
NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
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G |
Kmt2b |
lysine methyltransferase 2B |
susceptibility |
ISO |
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RGD |
PMID:25079327 |
RGD:9588599 |
NCBI chr 1:89,022,889...89,042,176
Ensembl chr 1:89,023,200...89,042,176
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G |
Kmt2c |
lysine methyltransferase 2C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24794707 |
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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
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
OMIM:601626 ClinVar Annotator: match by term: Acute myeloblastic leukemia ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar Annotator: match by term: Leukemia, acute myelogenous ClinVar Annotator: match by term: Leukemia, acute myeloid, UMLS MESH term: Acute Myelogenous Leukemia |
ClinVar OMIM |
PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 PMID:8439212 PMID:8955068 PMID:12460918 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 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:19881948 PMID:20609353 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20978259 PMID:21063026 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22392911 PMID:22407852 PMID:22499344 PMID:22571758 PMID:22683711 PMID:22722830 PMID:22734028 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23182985 PMID:23325582 PMID:23406027 PMID:24033266 PMID:24558511 PMID:24720724 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26372703 PMID:26619011 PMID:26623049 PMID:28492532 PMID:29298116 PMID:31891627 PMID:32581362, PMID:8955068, PMID:21283084 |
RGD:1600469, RGD:11060151 |
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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G |
LOC100909954 |
uncharacterized LOC100909954 |
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ISO |
ClinVar Annotator: match by term: Leukemia, acute myeloid |
ClinVar |
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NCBI chr 6:129,259,581...129,322,113
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G |
Lpar1 |
lysophosphatidic acid receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 5:75,557,038...75,678,067
Ensembl chr 5:75,557,042...75,676,584
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G |
Lpp |
LIM domain containing preferred translocation partner in lipoma |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr11:79,192,603...79,827,858
Ensembl chr11:79,205,730...79,703,736
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G |
Lrp3 |
LDL receptor related protein 3 |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,447,308...91,462,603
Ensembl chr 1:91,448,361...91,462,603
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G |
Lrrc56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Leukemia, acute myelogenous ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar Annotator: match by term: Acute myelocytic leukemia |
ClinVar |
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:168335863 |
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NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
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G |
Lyl1 |
LYL1, basic helix-loop-helix family member |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16094422 |
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NCBI chr19:25,815,207...25,818,074
Ensembl chr19:25,815,207...25,818,074
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G |
Mdm2 |
MDM2 proto-oncogene |
disease_progression |
ISO |
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RGD |
PMID:11064355 |
RGD:11251749 |
NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
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G |
Mecom |
MDS1 and EVI1 complex locus |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30472098 |
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NCBI chr 2:117,396,084...117,993,604
Ensembl chr 2:117,396,007...117,454,769
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G |
Mefv |
MEFV innate immuity regulator, pyrin |
susceptibility |
ISO |
DNA:polymorphisms:cds:p.M694V,E148Q(human) |
RGD |
PMID:22351163 |
RGD:11531114 |
NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22683780 |
|
NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
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G |
Mir155 |
microRNA 155 |
|
ISO |
miRNA:increased expression:blood miRNA:decreased expression:peripheral blood mononuclear cell |
RGD |
PMID:28989535, PMID:26923190 |
RGD:24922214, RGD:25671477 |
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
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G |
Mlf1 |
myeloid leukemia factor 1 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:25741868, PMID:15659732 |
RGD:1600902 |
NCBI chr 2:164,549,423...164,582,645
Ensembl chr 2:164,549,455...164,582,643
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G |
Mllt10 |
MLLT10, histone lysine methyltransferase DOT1L cofactor |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
OMIM ClinVar |
PMID:25741868 |
|
NCBI chr17:84,847,660...84,981,134
Ensembl chr17:84,881,414...84,979,543
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G |
Mn1 |
MN1 proto-oncogene, transcriptional regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19822134 |
|
NCBI chr12:51,214,192...51,250,230
Ensembl chr12:51,214,192...51,250,230
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G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
DNA:SNPs: :677C>T, 1298A>C(human) |
RGD |
PMID:17156840 |
RGD:10449408 |
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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G |
Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
susceptibility |
ISO |
DNA:polymorphism: :66A>G(human) |
RGD |
PMID:18774170 |
RGD:11075096 |
NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
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G |
Mx1 |
MX dynamin like GTPase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr11:37,891,150...37,916,775
Ensembl chr11:37,891,156...37,914,983
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G |
Mybl2 |
MYB proto-oncogene like 2 |
|
ISS |
OMIM:601626 |
MouseDO |
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NCBI chr 3:159,421,638...159,450,087
Ensembl chr 3:159,421,671...159,450,086
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25956709 |
|
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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G |
Myh11 |
myosin heavy chain 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 PMID:27798625 |
|
NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
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G |
Nat2 |
N-acetyltransferase 2 |
susceptibility no_association |
ISO |
DNA:polymorphisms,haplotype: : DNA:polymorphism: : |
RGD |
PMID:21888617, PMID:11352872 |
RGD:11532769, RGD:11532773 |
NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
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G |
Ncoa2 |
nuclear receptor coactivator 2 |
|
ISO |
human gene in a mouse model;DNA:translocation:exon |
RGD |
PMID:12676584 |
RGD:9590334 |
NCBI chr 5:5,466,544...5,696,540
Ensembl chr 5:5,616,483...5,694,598
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G |
Nectin2 |
nectin cell adhesion molecule 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:29855615 |
|
NCBI chr 1:80,631,449...80,666,617
Ensembl chr 1:80,631,450...80,666,585
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G |
Nf1 |
neurofibromin 1 |
severity disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism DNA:deletion: : |
CTD |
PMID:21441929 PMID:25822087, PMID:23460398, PMID:12518368 |
RGD:12789444, RGD:12754447 |
NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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G |
Nos3 |
nitric oxide synthase 3 |
disease_progression |
ISO |
DNA:polymorphgism: : 894 G>T(human) |
RGD |
PMID:24684492 |
RGD:11533640 |
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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G |
Npm1 |
nucleophosmin 1 |
onset disease_progression |
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia CTD Direct Evidence: marker/mechanism DNA:mutation:exon: ClinVar Annotator: match by term: Leukemia, acute myeloid, UMLS MESH term: Acute Myelogenous Leukemia |
ClinVar CTD OMIM |
PMID:15659725 PMID:19657110 PMID:19822134 PMID:20026798 PMID:21441929 PMID:23877794 PMID:27992414 PMID:30420649 PMID:32581362, PMID:15659725, PMID:21441929, PMID:25992555, PMID:17957027, PMID:24184354, PMID:15659732 |
RGD:1600907, RGD:11534990, RGD:11070453, RGD:11049474, RGD:11049471, RGD:1600902 |
NCBI chr10:18,080,949...18,091,062
Ensembl chr10:18,080,950...18,090,950
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G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
|
ISO |
DNA:SNP: :609C>T (human) |
RGD |
PMID:19456854 |
RGD:10769358 |
NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
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G |
Nras |
NRAS proto-oncogene, GTPase |
disease_progression |
ISO |
ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar Annotator: match by term: Acute myelocytic leukemia CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leukemia, acute myelogenous ClinVar Annotator: match by term: Acute myeloid leukemia DNA:missense mutation:cds: |
ClinVar CTD |
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10598665 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15899789 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17699718 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21107323 PMID:21263000 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23076151 PMID:23134356 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24284627 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:26619011 PMID:26821351 PMID:27050078 PMID:27992414 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:28780248, PMID:21283084, PMID:18952898, PMID:25204082 |
RGD:11060151, RGD:11070616, RGD:11535045 |
NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
severity |
ISO |
DNA:translocations:multiple (human) ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:15942875 PMID:25741868 PMID:28492532, PMID:23630019 |
RGD:9590149 |
NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
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G |
Ntrk3 |
neurotrophic receptor tyrosine kinase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29119387 |
|
NCBI chr 1:139,890,537...140,262,503
Ensembl chr 1:139,890,560...140,262,503
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G |
Nup214 |
nucleoporin 214 |
|
ISO |
|
OMIM |
|
|
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
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G |
Nup98 |
nucleoporin 98 and 96 precursor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21441929 |
|
NCBI chr 1:167,213,866...167,308,851
Ensembl chr 1:167,213,866...167,308,851
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G |
Pax5 |
paired box 5 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:60,007,587...60,191,973
Ensembl chr 5:60,007,587...60,191,941
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G |
Pdcd1 |
programmed cell death 1 |
treatment |
ISO |
|
RGD |
PMID:26712908 |
RGD:41410789 |
NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845 Ensembl chr 9:101,307,764...101,319,845
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G |
Pde4b |
phosphodiesterase 4B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr 5:121,759,236...122,136,814
Ensembl chr 5:121,952,977...122,136,814
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G |
Picalm |
phosphatidylinositol binding clathrin assembly protein |
susceptibility |
ISO |
DNA:inversion: :inv(11)(q14q23) |
OMIM |
PMID:12461747 |
RGD:1600760 |
NCBI chr 1:154,377,229...154,458,966
Ensembl chr 1:154,377,247...154,458,425
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|
G |
Pim2 |
Pim-2 proto-oncogene, serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19458359 |
|
NCBI chr X:15,462,621...15,467,890
Ensembl chr X:15,462,016...15,467,875
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G |
Plcb1 |
phospholipase C beta 1 |
severity |
ISO |
mRNA:increased expression:blood (human) |
RGD |
PMID:20516454 |
RGD:11535940 |
NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
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G |
Pou4f1 |
POU class 4 homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
|
NCBI chr15:88,618,255...88,622,712
Ensembl chr15:88,620,470...88,622,413
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G |
Prame |
PRAME nuclear receptor transcriptional regulator |
|
ISO |
mRNA:increased expression:bone marrow, mononuclear cell (human) |
RGD |
PMID:20376794 |
RGD:11535023 |
NCBI chr X:106,082,984...106,091,256
Ensembl chr X:106,083,203...106,085,878
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G |
Psip1 |
PC4 and SFRS1 interacting protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr 5:101,555,691...101,588,659
Ensembl chr 5:101,555,694...101,588,598
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G |
Ptch1 |
patched 1 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28873162 |
|
NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
ClinVar Annotator: match by term: Leukemia, acute myelogenous ClinVar Annotator: match by term: Acute myeloid leukemia CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
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:27992414 PMID:28098151 PMID:30868567 |
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NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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G |
Pvr |
PVR cell adhesion molecule |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:29855615 |
|
NCBI chr 1:80,820,306...80,835,712
Ensembl chr 1:80,820,050...80,835,701
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G |
Pxdn |
peroxidasin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr 6:48,866,496...48,982,368
Ensembl chr 6:48,866,601...48,980,340
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G |
Rasgrp1 |
RAS guanyl releasing protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21441929 |
|
NCBI chr 3:108,984,029...109,044,420
Ensembl chr 3:108,984,029...109,044,420
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G |
Rgs2 |
regulator of G-protein signaling 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr13:60,846,458...60,849,061
Ensembl chr13:60,846,308...60,849,094
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G |
Rhpn2 |
rhophilin, Rho GTPase binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,596,344...91,657,395
Ensembl chr 1:91,596,397...91,657,395
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G |
RT1-Bb |
RT1 class II, locus Bb |
|
ISO |
|
RGD |
PMID:20051322, PMID:17237562 |
RGD:11041763, RGD:11041776 |
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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G |
Rtel1 |
regulator of telomere elongation helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
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G |
Runx1 |
RUNX family transcription factor 1 |
disease_progression |
ISO |
DNA:translocation ClinVar Annotator: match by term: Acute myeloid leukemia CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leukemia, acute myeloid, m0 subtype DNA:frameshift mutations, missense mutations, nonsense mutations: :multiple |
ClinVar CTD OMIM |
PMID:10068652 PMID:10508512 PMID:11276260 PMID:12200707 PMID:12377125 PMID:12393679 PMID:12807882 PMID:15156185 PMID:17234761 PMID:18206229 PMID:19357396 PMID:19387465 PMID:19808697 PMID:20549580 PMID:20722699 PMID:22012064 PMID:23817177 PMID:24374719 PMID:24523240 PMID:24616160 PMID:24659740 PMID:25741868 PMID:25840971 PMID:27294619 PMID:27798625 PMID:28231333 PMID:28492532 PMID:28513614 PMID:30420649 PMID:31064749 PMID:32098966, PMID:12760263, PMID:19808697, PMID:11023523 |
RGD:6482833, RGD:11251704, RGD:11251692 |
NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
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G |
Runx1t1 |
RUNX1 partner transcriptional co-repressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 PMID:27798625 |
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NCBI chr 5:27,284,921...27,440,802
Ensembl chr 5:27,312,928...27,442,841
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G |
Runx3 |
RUNX family transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
|
NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
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G |
S100a10 |
S100 calcium binding protein A10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr 2:193,892,589...193,901,236
Ensembl chr 2:193,892,589...193,901,236
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G |
S100a8 |
S100 calcium binding protein A8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21971985 |
|
NCBI chr 2:190,073,239...190,074,333
Ensembl chr 2:190,073,815...190,074,354
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G |
Septin9 |
septin 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10339604 |
|
NCBI chr10:106,208,308...106,340,747
Ensembl chr10:106,264,434...106,348,490
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G |
Sf3b1 |
splicing factor 3b, subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar Annotator: match by term: Leukemia, acute myelogenous |
ClinVar |
PMID:21909114 PMID:21995386 PMID:23395771 PMID:23634996 PMID:26619011 |
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NCBI chr 9:61,594,620...61,634,510
Ensembl chr 9:61,594,620...61,634,510
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G |
Sf3b2 |
splicing factor 3b, subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Leukemia, acute myelogenous |
ClinVar |
PMID:26619011 |
|
NCBI chr 1:220,645,685...220,665,611
Ensembl chr 1:220,645,672...220,665,603
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G |
Sgk1 |
serum/glucocorticoid regulated kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr 1:24,185,451...24,302,309
Ensembl chr 1:24,185,435...24,302,298
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G |
Sh3gl1 |
SH3 domain containing GRB2 like 1, endophilin A2 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 9:11,031,847...11,055,285
Ensembl chr 9:11,031,841...11,055,285
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G |
Slc7a10 |
solute carrier family 7 member 10 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,432,952...91,448,566
Ensembl chr 1:91,433,030...91,448,564
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G |
Sod2 |
superoxide dismutase 2 |
disease_progression |
ISO |
protein:increased expression:serum |
RGD |
PMID:1596865, PMID:16769586 |
RGD:11035286, RGD:11035289 |
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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G |
Sparc |
secreted protein acidic and cysteine rich |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
|
NCBI chr10:40,742,390...40,764,232
Ensembl chr10:40,742,400...40,764,185
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G |
Spi1 |
Spi-1 proto-oncogene |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26237430 |
|
NCBI chr 3:79,918,127...79,937,708
Ensembl chr 3:79,918,969...79,938,301
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G |
Spry4 |
sprouty RTK signaling antagonist 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25822087 |
|
NCBI chr18:32,593,370...32,609,890
Ensembl chr18:32,594,958...32,609,864
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G |
Srsf2 |
serine and arginine rich splicing factor 2 |
severity |
ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:22431577 |
RGD:11039017 |
NCBI chr10:105,792,779...105,795,986
Ensembl chr10:105,792,779...105,795,958
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G |
Srsf4 |
serine and arginine rich splicing factor 4 |
|
ISO |
mRNA:decreased expression: (human) |
RGD |
PMID:22722453 |
RGD:11039059 |
NCBI chr 5:150,032,999...150,060,769
Ensembl chr 5:150,032,999...150,060,765
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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
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G |
Svil |
supervillin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr17:55,230,298...55,425,967
Ensembl chr17:55,230,298...55,346,279
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G |
Syngr1 |
synaptogyrin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr 7:121,311,008...121,334,437
Ensembl chr 7:121,311,024...121,334,437
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G |
Tcea2 |
transcription elongation factor A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr 3:177,187,686...177,195,898
Ensembl chr 3:177,188,044...177,195,894
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G |
Tcl1a |
Tcl1 family Akt coactivator A |
|
ISO |
ClinVar Annotator: match by term: Leukemia, acute myeloid |
ClinVar |
|
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NCBI chr 6:128,888,768...128,894,761
Ensembl chr 6:128,888,768...128,894,761
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G |
Tcn2 |
transcobalamin 2 |
|
ISO |
protein:increased expression:: |
RGD |
PMID:1059479 |
RGD:11060122 |
NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
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G |
Tek |
TEK receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:19340004 |
|
NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
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G |
Tert |
telomerase reverse transcriptase |
disease_progression |
ISO |
ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar Annotator: match by term: Acute myelocytic leukemia |
OMIM ClinVar |
PMID:15814878 PMID:17460043 PMID:18460650 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19760749 PMID:19796246 PMID:20966039 PMID:21520173 PMID:21635204 PMID:22476886 PMID:23538340 PMID:23901009 PMID:24033266 PMID:24983628 PMID:25108601 PMID:25741868 PMID:26859482 PMID:28154186 PMID:28492532, PMID:23826993 |
RGD:11038655 |
NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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G |
Tet2 |
tet methylcytosine dioxygenase 2 |
disease_progression |
ISO |
DNA:deletions |
RGD |
PMID:23389918, PMID:25200248 |
RGD:11038681, RGD:11038682 |
NCBI chr 2:238,719,389...238,802,975
Ensembl chr 2:238,720,835...238,803,024
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G |
Tfpi2 |
tissue factor pathway inhibitor 2 |
|
ISO |
DNA:hypermethylation:promoter: |
RGD |
PMID:22052167 |
RGD:11060127 |
NCBI chr 4:28,947,951...28,953,261
Ensembl chr 4:28,947,965...28,953,067
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G |
Tfr2 |
transferrin receptor 2 |
disease_progression |
ISO |
|
RGD |
PMID:15015967 |
RGD:11062090 |
NCBI chr12:22,177,382...22,194,330
Ensembl chr12:22,177,382...22,194,299
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G |
Tgm6 |
transglutaminase 6 |
|
ISO |
ClinVar Annotator: match by term: Leukemia, acute myeloid, UMLS MESH term: Acute Myelogenous Leukemia |
ClinVar |
PMID:21106500 |
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NCBI chr 3:122,644,183...122,680,054
Ensembl chr 3:122,662,086...122,679,128
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G |
Tmem127 |
transmembrane protein 127 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:20923864 PMID:25741868 PMID:28492532 |
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NCBI chr 3:119,677,575...119,690,371
Ensembl chr 3:119,677,575...119,690,366
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G |
Tnfsf10 |
TNF superfamily member 10 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12780785 |
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NCBI chr 2:113,008,008...113,026,899
Ensembl chr 2:113,007,549...113,026,899
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G |
Tnfsf8 |
TNF superfamily member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9058727 PMID:10512160 PMID:11918534 |
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NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
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G |
Tnfsf9 |
TNF superfamily member 9 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:11564827 |
RGD:2317350 |
NCBI chr 9:9,909,942...9,912,276
Ensembl chr 9:9,909,948...9,912,276
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G |
Tp53 |
tumor protein p53 |
disease_progression treatment |
ISO |
DNA:mutation: : ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar Annotator: match by term: Acute myelocytic leukemia ClinVar Annotator: match by term: Leukemia, acute myelogenous CTD Direct Evidence: marker/mechanism DNA:mutations: : |
ClinVar CTD |
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1631137 PMID:1631151 PMID:1683921 PMID:1978757 PMID:2046748 PMID:2113594 PMID:2826609 PMID:7732013 PMID:7887414 PMID:7969167 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8633021 PMID:9047394 PMID:9049183 PMID:9242456 PMID:9290701 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9662334 PMID:9825943 PMID:10411893 PMID:10432928 PMID:10589545 PMID:10616528 PMID:10797439 PMID:10864200 PMID:10914716 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11315715 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11494139 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12124823 PMID:12509279 PMID:12672316 PMID:12700230 PMID:12726864 PMID:12792784 PMID:12826609 PMID:12917626 PMID:14559903 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15381368 PMID:15390294 PMID:15580553 PMID:15607980 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15951970 PMID:15977174 PMID:16209708 PMID:16288208 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16633321 PMID:16682957 PMID:16778209 PMID:16818505 PMID:16861262 PMID:17015838 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17567834 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:18307025 PMID:18511570 PMID:18555592 PMID:18685109 PMID:19101993 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19462533 PMID:19556618 PMID:19681600 PMID:19834951 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20308654 PMID:20407015 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20693561 PMID:20805372 PMID:21056685 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22090360 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22265402 PMID:22427690 PMID:22540896 PMID:22713868 PMID:22811390 PMID:22862161 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22999923 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23265383 PMID:23315175 PMID:23334668 PMID:23538418 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24256616 PMID:24381225 PMID:24395441 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24744791 PMID:24810334 PMID:25157968 PMID:25339994 PMID:25433984 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25587027 PMID:25741868 PMID:25787918 PMID:25822087 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26230955 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26534844 PMID:26554828 PMID:26585234 PMID:26619011 PMID:26659639 PMID:26681312 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27022024 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27533082 PMID:27622479 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27873457 PMID:27895058 PMID:27959731 PMID:28135145 PMID:28152038 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28476805 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29324801 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29753700 PMID:29979965 PMID:30076369 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31206626 PMID:31300551 PMID:31775759 PMID:32000721 PMID:32295079, PMID:24836762, PMID:25412846, PMID:25573287 |
RGD:11073714, RGD:11057925, RGD:11075071 |
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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G |
Trh |
thyrotropin releasing hormone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr 4:124,110,716...124,113,242
Ensembl chr 4:124,110,716...124,113,242
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G |
Trio |
trio Rho guanine nucleotide exchange factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr 2:80,471,398...80,769,313
Ensembl chr 2:80,473,202...80,667,481
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G |
Tsc1 |
TSC complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
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G |
Tsc2 |
TSC complex subunit 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19250671 |
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NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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G |
Tubb2a |
tubulin, beta 2A class IIa |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr17:31,493,145...31,496,827
Ensembl chr17:31,493,107...31,498,651
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G |
Tyms |
thymidylate synthetase |
susceptibility |
ISO |
DNA:repeats,insertion/deletion:5'UTR, 3'UTR: |
RGD |
PMID:18774170 |
RGD:11075096 |
NCBI chr 9:121,918,875...121,931,564
Ensembl chr 9:121,918,947...121,931,564
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G |
U2af1 |
U2 small nuclear RNA auxiliary factor 1 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar Annotator: match by term: Leukemia, acute myelogenous |
ClinVar |
PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011 |
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NCBI chr20:10,396,652...10,407,564
Ensembl chr20:10,396,621...10,407,554
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G |
Vegfa |
vascular endothelial growth factor A |
disease_progression |
ISO |
DNA:SNP,haplotype: :(rs3025039),(rs699947),(rs833061)(human) |
RGD |
PMID:17983459 |
RGD:13432134 |
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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G |
Vopp1 |
VOPP1 WW domain binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr 4:88,441,067...88,515,141
Ensembl chr 4:88,441,067...88,515,138
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G |
Vsig4 |
V-set and immunoglobulin domain containing 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr X:65,370,851...65,400,298
Ensembl chr X:65,370,851...65,400,298
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G |
Wdr88 |
WD repeat domain 88 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,487,807...91,528,318
Ensembl chr 1:91,488,066...91,526,570
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G |
Wt1 |
WT1 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:19822134 PMID:24374862 PMID:24422723 PMID:24521058 PMID:24659740 PMID:24667279 PMID:24671364 PMID:25741868 PMID:27992414 |
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NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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G |
Zbtb7a |
zinc finger and BTB domain containing 7a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27798625 |
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NCBI chr 7:11,429,266...11,446,119
Ensembl chr 7:11,432,049...11,444,786
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G |
Zfp91 |
zinc finger protein 91 |
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IDA |
|
RGD |
PMID:12738986 |
RGD:727221 |
NCBI chr 1:229,602,499...229,640,906
Ensembl chr 1:229,602,499...229,639,187
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G |
Arhgap26 |
Rho GTPase activating protein 26 |
|
ISO |
juvenile myelomonocytic leukemia, OMIM:607785 |
RGD |
PMID:10908648 |
RGD:1599311 |
NCBI chr18:31,807,052...32,557,176
Ensembl chr18:31,812,109...32,207,801
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G |
Cbfb |
core-binding factor subunit beta |
susceptibility |
ISO |
DNA:inversion: ;inv(16)(p13q22) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10958941, PMID:8351518 |
RGD:1599543 |
NCBI chr19:37,127,508...37,171,075
Ensembl chr19:37,127,508...37,171,069
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G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
|
ISO |
|
RGD |
PMID:14681685 |
RGD:11252167 |
NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104
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G |
Flt3 |
Fms related receptor tyrosine kinase 3 |
treatment |
ISO |
|
RGD |
PMID:22187040 |
RGD:11049503 |
NCBI chr12:9,360,439...9,437,004
Ensembl chr12:9,360,672...9,436,570
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G |
Gmps |
guanine monophosphate synthase |
|
ISO |
treatment-related acute type M4 myeloid leukemia; chromosomal translocation resulted in a fusion of MLL and GMPS genes |
RGD |
PMID:11110714 |
RGD:1598998 |
NCBI chr 2:154,555,967...154,590,662
Ensembl chr 2:154,555,871...154,590,662
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G |
Kmt2a |
lysine methyltransferase 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8282816 |
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NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
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G |
Myh11 |
myosin heavy chain 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10958941 |
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NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
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G |
Akt1 |
AKT serine/threonine kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12556562 |
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NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
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G |
Aqp9 |
aquaporin 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23563754 |
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NCBI chr 8:77,559,621...77,599,781
Ensembl chr 8:77,559,624...77,599,781
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G |
Asxl1 |
ASXL transcriptional regulator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26285909 |
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NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
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G |
Birc5 |
baculoviral IAP repeat-containing 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27770503 |
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NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413
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G |
Ccl7 |
C-C motif chemokine ligand 7 |
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IEP |
|
RGD |
PMID:19828696 |
RGD:5130982 |
NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
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G |
Cd44 |
CD44 molecule (Indian blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:16208414 PMID:17349212 |
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NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
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G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
disease_progression |
ISO |
DNA:hyprmethylation:promoter: |
RGD |
PMID:12750706 |
RGD:11252187 |
NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104
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G |
Cebpa |
CCAAT/enhancer binding protein alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:16788101 PMID:26285909 |
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NCBI chr 1:91,363,492...91,366,164
Ensembl chr 1:91,363,492...91,366,164
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G |
Cebpe |
CCAAT/enhancer binding protein epsilon |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16788101 |
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NCBI chr15:33,356,119...33,357,517
Ensembl chr15:33,355,947...33,358,138
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G |
Dapk2 |
death-associated protein kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28978663 |
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NCBI chr 8:71,822,107...71,941,941
Ensembl chr 8:71,822,129...71,941,910
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G |
Dnmt3a |
DNA methyltransferase 3 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26285909 |
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NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
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G |
F3 |
coagulation factor III, tissue factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16206674, PMID:10726043 |
RGD:11340216 |
NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
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G |
Flt3 |
Fms related receptor tyrosine kinase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17454189 PMID:24160850 PMID:26285909 |
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NCBI chr12:9,360,439...9,437,004
Ensembl chr12:9,360,672...9,436,570
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G |
Fndc3b |
fibronectin type III domain containing 3B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28314734 |
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NCBI chr 2:113,109,949...113,415,171
Ensembl chr 2:113,112,902...113,345,577
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G |
Gli1 |
GLI family zinc finger 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23867347 |
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NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
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G |
Gli2 |
GLI family zinc finger 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23867347 |
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NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
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G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
|
RGD |
PMID:21875282 |
RGD:10755406 |
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26285909 |
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NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
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G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26285909 |
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NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
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G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22617429 |
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NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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G |
Il17a |
interleukin 17A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22617429 |
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NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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G |
Irf2bp2 |
interferon regulatory factor 2 binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25583766 |
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NCBI chr19:59,497,021...59,502,298
Ensembl chr19:59,499,876...59,502,161
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G |
Itgal |
integrin subunit alpha L |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16764927 |
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NCBI chr 1:198,744,053...198,781,745
Ensembl chr 1:198,744,050...198,781,750
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G |
Itgam |
integrin subunit alpha M |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16764927 |
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NCBI chr 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
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G |
Itgax |
integrin subunit alpha X |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16764927 |
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NCBI chr 1:199,555,560...199,576,948
Ensembl chr 1:199,555,722...199,576,932
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G |
Itgb2 |
integrin subunit beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16764927 |
|
NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
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|
G |
Kit |
KIT proto-oncogene receptor tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26285909 |
|
NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
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|
G |
Kmt2e |
lysine methyltransferase 2E |
severity |
ISO |
mRNA:decreased expression:peripheral blood, bone marrow, mononuclear cells (human) |
RGD |
PMID:24796963 |
RGD:9588539 |
NCBI chr 4:8,187,751...8,255,578
Ensembl chr 4:8,187,751...8,255,514
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|
G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
onset |
ISO |
mRNA:increased expression:promyelocyte: |
RGD |
PMID:21059853, PMID:21059853 |
RGD:11532756, RGD:11532756 |
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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|
G |
Ncam1 |
neural cell adhesion molecule 1 |
disease_progression |
ISO |
|
RGD |
PMID:24296270 |
RGD:40907062 |
NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
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G |
Npm1 |
nucleophosmin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14508522 PMID:26285909, PMID:15659732 |
RGD:1600902 |
NCBI chr10:18,080,949...18,091,062
Ensembl chr10:18,080,950...18,090,950
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|
G |
Nras |
NRAS proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26285909 |
|
NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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G |
Numa1 |
nuclear mitotic apparatus protein 1 |
|
ISO |
|
OMIM |
|
|
NCBI chr 1:167,044,544...167,091,453
Ensembl chr 1:167,051,209...167,091,453
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G |
Plat |
plasminogen activator, tissue type |
|
ISO |
protein:increased expression:leukocyte (human) |
RGD |
PMID:10861807 |
RGD:11541060 |
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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|
G |
Pml |
PML nuclear body scaffold |
|
ISO |
CTD Direct Evidence: marker/mechanism human PML/RARA gene fusion in a mouse model |
CTD |
PMID:8616088 PMID:10742073 PMID:14706140 PMID:16788101 PMID:16835227 PMID:16891316 PMID:16935935 PMID:17294898 PMID:17649720 PMID:19029980 PMID:19035177 PMID:19884644 PMID:19887701 PMID:21345080 PMID:21613260 PMID:22213200 PMID:23208507 PMID:23734343 PMID:26285909 PMID:26728337, PMID:9122233 |
RGD:41404695 |
NCBI chr 8:63,002,515...63,034,310
Ensembl chr 8:63,004,870...63,034,226
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|
G |
Prame |
PRAME nuclear receptor transcriptional regulator |
severity |
ISO |
mRNA:increased expression:bone marrow (human) |
RGD |
PMID:18815192 |
RGD:11535037 |
NCBI chr X:106,082,984...106,091,256
Ensembl chr X:106,083,203...106,085,878
|
|
G |
Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17712046 |
|
NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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G |
Rap1gap |
Rap1 GTPase-activating protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22614916 |
|
NCBI chr 5:156,008,868...156,074,350
Ensembl chr 5:156,026,911...156,074,395
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G |
Rara |
retinoic acid receptor, alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD OMIM |
PMID:8616088 PMID:10742073 PMID:14508522 PMID:14706140 PMID:16239915 PMID:16788101 PMID:16835227 PMID:16891316 PMID:16935935 PMID:17294898 PMID:17649720 PMID:17712046 PMID:19029980 PMID:19035177 PMID:19884644 PMID:19887701 PMID:21613260 PMID:22213200 PMID:23208507 PMID:25583766 PMID:26285909 PMID:26728337 PMID:28314734, PMID:15659732 |
RGD:1600902 |
NCBI chr10:86,838,819...86,884,224
Ensembl chr10:86,860,685...86,884,210
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G |
Smo |
smoothened, frizzled class receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23867347 |
|
NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
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G |
Tet2 |
tet methylcytosine dioxygenase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26285909 |
|
NCBI chr 2:238,719,389...238,802,975
Ensembl chr 2:238,720,835...238,803,024
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G |
Thbd |
thrombomodulin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16206674 |
|
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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G |
Tmem127 |
transmembrane protein 127 |
|
ISO |
ClinVar Annotator: match by term: Acute promyelocytic leukemia |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:119,677,575...119,690,371
Ensembl chr 3:119,677,575...119,690,366
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G |
Top2a |
DNA topoisomerase II alpha |
|
ISO |
ClinVar Annotator: match by term: Dna topoisomerase II, resistance to inhibition of, by amsacrine |
ClinVar |
PMID:1651812 |
|
NCBI chr10:86,901,467...86,930,947
Ensembl chr10:86,901,007...86,932,154
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G |
Wt1 |
WT1 transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26285909 |
|
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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G |
Zbtb16 |
zinc finger and BTB domain containing 16 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23208507, PMID:8387545 |
RGD:1599922 |
NCBI chr 8:52,980,226...53,146,765
Ensembl chr 8:52,985,313...53,146,953
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|
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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
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|
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
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|
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
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|
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
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|
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
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G |
Cd163 |
CD163 molecule |
disease_progression |
ISO |
protein:increased expression:lymph node tumor (human) |
RGD |
PMID:23557330 |
RGD:42721976 |
NCBI chr 4:156,752,063...156,785,467
Ensembl chr 4:156,752,082...156,785,467
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|
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
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|
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
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|
G |
Cd68 |
Cd68 molecule |
disease_progression |
ISO |
protein:increased expression:lymph node tumor (human) |
RGD |
PMID:23557330 |
RGD:42721976 |
NCBI chr10:56,268,726...56,270,605
Ensembl chr10:56,268,720...56,270,640
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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
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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
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|
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
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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
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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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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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
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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
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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
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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
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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
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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
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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
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|
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
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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
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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
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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
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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
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|
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
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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
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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
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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
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|
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
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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
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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
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|
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
|
RGD |
PMID:15050920 |
RGD:11352668 |
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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|
G |
Setbp1 |
SET binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23222956 |
|
NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
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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
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|
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
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|
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
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|
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
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|
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
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|
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
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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 |
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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 |
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NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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G |
Btk |
Bruton tyrosine kinase |
treatment |
ISO |
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RGD |
PMID:23045577 |
RGD:11040699 |
NCBI chr X:105,360,922...105,390,580
Ensembl chr X:105,360,922...105,390,580
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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
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G |
Ccdc50 |
coiled-coil domain containing 50 |
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ISO |
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RGD |
PMID:19641524 |
RGD:9685139 |
NCBI chr11:76,742,179...76,804,695
Ensembl chr11:76,747,865...76,804,510
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G |
Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:20616215 |
RGD:5490532 |
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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G |
Cd40lg |
CD40 ligand |
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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
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G |
Cd5 |
Cd5 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18006695 |
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NCBI chr 1:226,770,912...226,791,861
Ensembl chr 1:226,770,744...226,791,879
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G |
Cd79b |
CD79b molecule |
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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
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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
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G |
Cpeb1 |
cytoplasmic polyadenylation element binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20062064 |
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NCBI chr 1:143,171,457...143,278,485
Ensembl chr 1:143,171,264...143,278,485
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
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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
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G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
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ISO |
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RGD |
PMID:18077792 |
RGD:11251735 |
NCBI chr X:155,844,914...155,862,363
Ensembl chr X:155,844,857...155,862,475
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G |
Dnmt3b |
DNA methyltransferase 3 beta |
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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
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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
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G |
Farp2 |
FERM, ARH/RhoGEF and pleckstrin domain protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20062064 |
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NCBI chr 9:100,660,366...100,767,940
Ensembl chr 9:100,660,394...100,767,940
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G |
Fas |
Fas cell surface death receptor |
disease_progression |
ISO |
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RGD |
PMID:12901972 |
RGD:11049461 |
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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G |
Fbxw7 |
F-box and WD repeat domain containing 7 |
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ISO |
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia |
ClinVar |
PMID:25741868 PMID:26619011 |
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NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
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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
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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
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G |
Hras |
HRas proto-oncogene, GTPase |
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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 |
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NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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G |
Icam1 |
intercellular adhesion molecule 1 |
severity |
ISO |
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RGD |
PMID:7658704 |
RGD:11354983 |
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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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
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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
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G |
Il19 |
interleukin 19 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18006695 |
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NCBI chr13:47,663,592...47,677,869
Ensembl chr13:47,664,080...47,670,407
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G |
Il1a |
interleukin 1 alpha |
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ISO |
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RGD |
PMID:19074885 |
RGD:11051968 |
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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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
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G |
Il1rn |
interleukin 1 receptor antagonist |
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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
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G |
Il6 |
interleukin 6 |
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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
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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
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G |
Itga4 |
integrin subunit alpha 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21093051 |
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NCBI chr 3:66,178,745...66,265,547
Ensembl chr 3:66,193,059...66,263,960
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G |
Kras |
KRAS proto-oncogene, GTPase |
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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 |
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NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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G |
Lef1 |
lymphoid enhancer binding factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770605 |
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NCBI chr 2:236,232,115...236,345,061
Ensembl chr 2:236,233,239...236,345,056
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G |
Lrrc56 |
leucine rich repeat containing 56 |
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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 |
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NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
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G |
Mir143 |
microRNA 143 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17892514 |
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NCBI chr18:56,971,273...56,971,377
Ensembl chr18:56,971,273...56,971,377
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G |
Mir145 |
microRNA 145 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17892514 |
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NCBI chr18:56,969,907...56,969,994
Ensembl chr18:56,969,907...56,969,994
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G |
Ms4a1 |
membrane spanning 4-domains A1 |
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ISO |
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RGD |
PMID:19911856 |
RGD:2316994 |
NCBI chr 1:227,429,241...227,441,492
Ensembl chr 1:227,429,596...227,441,442
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G |
Mthfr |
methylenetetrahydrofolate reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16706930 |
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NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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G |
Nras |
NRAS proto-oncogene, GTPase |
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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 |
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NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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