Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147001633
rs147001633
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.030 GeneticVariation BEFREE The R882H mutation causes a reduction in DNA methyltransferase activity and hypomethylation at differentially-methylated regions within the genome, ultimately preventing hematopoietic stem cell differentiation and leading to leukemogenesis. 31582562

2019

dbSNP: rs147001633
rs147001633
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.030 GeneticVariation BEFREE Molecularly, both DNMT3A-WT and R882H/C mutants interacted with PRDX2; and R882C/H mutation-induced hypomethylation increased PRDX2 expression which enhanced cell proliferation and growth with impairment of apoptosis, thereby contributing to leukemogenesis. 30245403

2018

dbSNP: rs147001633
rs147001633
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.030 GeneticVariation BEFREE Moreover, DNMT3A-R882H increased the CDK1 protein level and enhanced cell-cycle activity, thereby contributing to leukemogenesis. 24497509

2014

dbSNP: rs121913237
rs121913237
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.020 GeneticVariation BEFREE Cooperation of Dnmt3a R878H with Nras G12D promotes leukemogenesis in knock-in mice: a pilot study. 31703632

2019

dbSNP: rs121913237
rs121913237
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.020 GeneticVariation BEFREE It is thus unclear how Nras(G12D/+) signaling promotes leukemogenesis. 23687087

2013

dbSNP: rs387907272
rs387907272
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.020 GeneticVariation BEFREE Genetically, PA-DLBCL harbored a high prevalence of MYD88 L265P (24%) and CD79B mutations (52%) which may be involved in lymphomagenesis. 31609782

2020

dbSNP: rs387907272
rs387907272
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.020 GeneticVariation BEFREE In order to evaluate whether the presence of the recently described MYD88 L265P mutation in patients with Waldenström's macroglobulinemia (WM) is contributory to SS-associated lymphomagenesis, a quantitative allele-specific PCR method was performed in peripheral blood derived from 90 SS patients as well as in minor salivary gland tissues derived from 12 primary SS patients with or without lymphoma. 24153350

2014

dbSNP: rs10251201
rs10251201
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 GeneticVariation BEFREE The locus of rs974120 shows marks of transcriptional activity in leukemia according to ENCODE data. rs10251201 (7p21.3), rs9318227 (13q22.1), and rs10405859 (19q13.32) were associated with markers related to leukemogenesis and immune and inflammatory responses. 28375557

2017

dbSNP: rs10405859
rs10405859
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 GeneticVariation BEFREE The locus of rs974120 shows marks of transcriptional activity in leukemia according to ENCODE data. rs10251201 (7p21.3), rs9318227 (13q22.1), and rs10405859 (19q13.32) were associated with markers related to leukemogenesis and immune and inflammatory responses. 28375557

2017

dbSNP: rs1190999960
rs1190999960
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 GeneticVariation BEFREE In contrast, p27 mutations that enhance its stability (p27(T187A)) or nuclear retention (p27(S10A)) attenuate leukemogenesis over wild-type p27, validating the tumor-suppressor function of nuclear p27 in CML. 25293778

2014

dbSNP: rs1217007648
rs1217007648
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 GeneticVariation BEFREE Transcription activator-like effector nuclease-based knock-in mutagenesis provides evidence from a B lymphoid context that K171E IKKβ contributes to lymphomagenesis. 25107905

2014

dbSNP: rs121912472
rs121912472
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 GeneticVariation BEFREE Thus our studies provide clues in understanding the leukemogenesis of JAK2 K607N mutation in AML. 30521925

2019

dbSNP: rs121913459
rs121913459
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 GeneticVariation BEFREE Furthermore, pharmacologic doses of FTY720 remarkably suppress in vivo p210/p190(BCR/ABL)-driven [including p210/p190(BCR/ABL)(T315I)] leukemogenesis without exerting any toxicity. 17717597

2007

dbSNP: rs121913514
rs121913514
KIT
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 GeneticVariation BEFREE The t(8;21) Acute Myeloid Leukaemia (AML) Kasumi-1 cell line with N822K KIT mutation, is a model system for leukemogenesis. 20227111

2010

dbSNP: rs1250394819
rs1250394819
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 GeneticVariation BEFREE In contrast, p27 mutations that enhance its stability (p27(T187A)) or nuclear retention (p27(S10A)) attenuate leukemogenesis over wild-type p27, validating the tumor-suppressor function of nuclear p27 in CML. 25293778

2014

dbSNP: rs1483790387
rs1483790387
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 GeneticVariation BEFREE In contrast, p27 mutations that enhance its stability (p27(T187A)) or nuclear retention (p27(S10A)) attenuate leukemogenesis over wild-type p27, validating the tumor-suppressor function of nuclear p27 in CML. 25293778

2014

dbSNP: rs2239630
rs2239630
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 GeneticVariation BEFREE This suggests CEBPE regulates a similar set of genes in each, consistent with a common biological mechanism of leukemogenesis for rs2239630 associated and CEBPE translocated ALL. 29977016

2019

dbSNP: rs25487
rs25487
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 GeneticVariation BEFREE These data suggest that XRCC1 Gln399Arg polymorphism plays a limited role in lymphomagenesis. 15104288

2004

dbSNP: rs267601394
rs267601394
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 GeneticVariation BEFREE In summary, EZH2(Y641F) can collaborate with Myc to accelerate lymphomagenesis demonstrating a cooperative role of EZH2 mutations in oncogenesis. 24802772

2014

dbSNP: rs371769427
rs371769427
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 GeneticVariation BEFREE In an attempt to identify <i>U2af1</i>(S34F)-cooperating changes that promote leukemogenesis, we combined <i>U2af1</i>(S34F) with <i>Runx1</i> deficiency in mice and further treated the mice with a mutagen, <i>N</i>-ethyl-<i>N</i>-nitrosourea (ENU). 30322915

2018

dbSNP: rs373667881
rs373667881
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 GeneticVariation BEFREE This R107L mutation remained in leukocytes of the remission stage in which GATA1 mutation disappeared, suggesting the TRIB1 mutation is an earlier genetic event in leukemogenesis. 22294728

2012

dbSNP: rs377577594
rs377577594
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 GeneticVariation BEFREE Molecularly, both DNMT3A-WT and R882H/C mutants interacted with PRDX2; and R882C/H mutation-induced hypomethylation increased PRDX2 expression which enhanced cell proliferation and growth with impairment of apoptosis, thereby contributing to leukemogenesis. 30245403

2018

dbSNP: rs397507510
rs397507510
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 GeneticVariation BEFREE We identified TET2 and PTPN11 mutations in both mouse and human AML and then demonstrated the ability of Tet2 loss and PTPN11 D61Y to initiate leukemogenesis in concert with expression of AML1-ETO in vivo. 26666262

2016

dbSNP: rs568887534
rs568887534
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 GeneticVariation BEFREE In contrast, p27 mutations that enhance its stability (p27(T187A)) or nuclear retention (p27(S10A)) attenuate leukemogenesis over wild-type p27, validating the tumor-suppressor function of nuclear p27 in CML. 25293778

2014

dbSNP: rs757412228
rs757412228
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 GeneticVariation BEFREE We identified TET2 and PTPN11 mutations in both mouse and human AML and then demonstrated the ability of Tet2 loss and PTPN11 D61Y to initiate leukemogenesis in concert with expression of AML1-ETO in vivo. 26666262

2016