Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Acute monocytic leukemia
CUI: C0023465
Disease: Acute monocytic leukemia
0.030 GeneticVariation BEFREE R882H specific DNA hypermethylation events in AML patients were accompanied by R882H specific mis-regulation of several genes with strong cancer connection, which are potential downstream targets of R882H. 31620784 2019
Acute monocytic leukemia
CUI: C0023465
Disease: Acute monocytic leukemia
0.030 GeneticVariation BEFREE The DNA methyltransferase DNMT3A R882H mutation is observed in 25% of all AML patients. 30185810 2018
Acute monocytic leukemia
CUI: C0023465
Disease: Acute monocytic leukemia
0.030 GeneticVariation BEFREE AML cells with the R882H mutation have severely reduced de novo methyltransferase activity and focal hypomethylation at specific CpGs throughout AML cell genomes. 24656771 2014