rs377577594, DNMT3A

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.710 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.710 GeneticVariation BEFREE We took advantage of DNMT3A (R882C) mutation-carrying AML cell strain, that is, OCI-AML3, assessing its migration ability in vitro and in vivo. 27724883 2016
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.710 CausalMutation CLINVAR Molecular evaluation of DNMT3A and IDH1/2 gene mutation: frequency, distribution pattern and associations with additional molecular markers in normal karyotype Indian acute myeloid leukemia patients. 24606448 2014
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.710 CausalMutation CLINVAR Three heterozygous mutations (p.R882S, p.R882C and p.R882H) were identified in three of 61 AML patients, whereas none of patients with other hematological disorders harbored any mutation. 22744846 2012
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.710 CausalMutation CLINVAR Cancer stem cells: Tracing clones. 22898540 2012
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.710 CausalMutation CLINVAR Three heterozygous mutations (p.R882S, p.R882C and p.R882H) were identified in three of 61 AML patients, whereas none of patients with other hematological disorders harbored any mutation. 22744846 2012
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.710 CausalMutation CLINVAR The role of mutations in epigenetic regulators in myeloid malignancies. 22898539 2012
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.710 CausalMutation CLINVAR The role of mutations in epigenetic regulators in myeloid malignancies. 22898539 2012
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.710 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010 2011
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.710 CausalMutation CLINVAR [Analysis of DNMT3a gene mutations in acute myelogenous leukemia]. 21518476 2011
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.710 CausalMutation CLINVAR [Analysis of DNMT3a gene mutations in acute myelogenous leukemia]. 21518476 2011
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.710 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010 2011
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.710 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010 2011
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.710 CausalMutation CLINVAR DNMT3A mutations in acute myeloid leukemia. 21067377 2010
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.710 CausalMutation CLINVAR DNMT3A mutations in acute myeloid leukemia. 21067377 2010
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Leukemia, Myelomonocytic, Chronic
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
0.700 GeneticVariation UNIPROT
Tatton Brown Rahman syndrome
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
0.700 CausalMutation CLINVAR
Neoplasm, Residual
CUI: C0242596
Disease: Neoplasm, Residual
0.010 GeneticVariation BEFREE We investigated the prognostic impact of minimal residual disease (MRD) monitoring in acute myeloid leukemia patients harboring DNA methyltransferase 3A-R882H/-R882C mutations (DNMT3A<sup>mut</sup>). 28643785 2018
Leukemogenesis
CUI: C0598766
Disease: 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