rs147001633, DNMT3A

N. diseases: 15
Disease: Leukemogenesis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leukemogenesis
CUI: C0598766
Disease: 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
Leukemogenesis
CUI: C0598766
Disease: 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
Leukemogenesis
CUI: C0598766
Disease: Leukemogenesis
0.030 GeneticVariation BEFREE Moreover, DNMT3A-R882H increased the CDK1 protein level and enhanced cell-cycle activity, thereby contributing to leukemogenesis. 24497509 2014