Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 CausalMutation CLINVAR The role of kinase inhibitors in the treatment of patients with acute myeloid leukemia. 23714533

2013

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation CLINVAR De novo childhood myelodysplastic/myeloproliferative disease with unique molecular characteristics. 22571758

2012

Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation CLINVAR Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. 22147895

2012

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation CLINVAR The oral HDAC inhibitor pracinostat (SB939) is efficacious and synergistic with the JAK2 inhibitor pacritinib (SB1518) in preclinical models of AML. 22829971

2012

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation CLINVAR Phase 2 study of the JAK kinase inhibitor ruxolitinib in patients with refractory leukemias, including postmyeloproliferative neoplasm acute myeloid leukemia. 22422826

2012

Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 CausalMutation CLINVAR Screening for mutation R882 in the DNMT3A gene in Chinese patients with hematological disease. 22744846

2012

Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 CausalMutation CLINVAR The role of mutations in epigenetic regulators in myeloid malignancies. 22898539

2012

Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 CausalMutation CLINVAR Cancer stem cells: Tracing clones. 22898540

2012

Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 CausalMutation CLINVAR Retroviral oncogenes: a historical primer. 22898541

2012

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation CLINVAR A patient with a 20-year lag phase between JAK2-V617F+ myeloproliferation and NPM1-mutated AML arguing against a common origin of disease. 21689158

2011

Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 CausalMutation CLINVAR [Analysis of DNMT3a gene mutations in acute myelogenous leukemia]. 21518476

2011

Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011

Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation CLINVAR Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. 21765025

2011

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation CLINVAR A case of myeloid sarcoma with correlation to JAK2V617F mutation, complicated by myelofibrosis and secondary acute myeloid leukemia. 22041374

2011

Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 CausalMutation CLINVAR DNMT3A mutations in acute myeloid leukemia. 21067377

2010

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation CLINVAR A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications. 20631743

2010

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation CLINVAR JAK2 V617F mutation in myelodysplastic syndrome, myelodysplastic syndrome/myeloproliferative neoplasm, unclassifiable, refractory anemia with ring sideroblasts with thrombocytosis, and acute myeloid leukemia. 21120162

2010

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation CLINVAR AML1 is overexpressed in patients with myeloproliferative neoplasms and mediates JAK2V617F-independent overexpression of NF-E2. 20339092

2010

Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation CLINVAR High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. 19357396

2009

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 CausalMutation CLINVAR KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients. 19164557

2009

Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation CLINVAR Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512

1999

Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 CausalMutation CLINVAR

Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation CLINVAR

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 CausalMutation CLINVAR

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016