Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		1.000 CausalMutation CLINVAR

Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		1.000 GeneticVariation CLINVAR

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: 64324
Gene Symbol: NSD1
NSD1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 GeneticVariation CLINVAR

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 CausalMutation CLINVAR

Entrez Id: 4869
Gene Symbol: NPM1
NPM1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 CausalMutation CLINVAR

Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 CausalMutation CLINVAR

Entrez Id: 51428
Gene Symbol: DDX41
DDX41
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.190 CausalMutation CLINVAR

Entrez Id: 343641
Gene Symbol: TGM6
TGM6
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.110 CausalMutation CLINVAR

Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 CausalMutation CLINVAR

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: 2322
Gene Symbol: FLT3
FLT3
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		1.000 GeneticVariation CLINVAR A novel FLT3 activation loop mutation N841K in acute myeloblastic leukemia. 15625552

2005
Entrez Id: 7307
Gene Symbol: U2AF1
U2AF1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.470 GeneticVariation CLINVAR A pan-cancer analysis of transcriptome changes associated with somatic mutations in U2AF1 reveals commonly altered splicing events. 24498085

2014
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: 2322
Gene Symbol: FLT3
FLT3
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		1.000 CausalMutation CLINVAR A phase 2 trial of the FLT3 inhibitor lestaurtinib (CEP701) as first-line treatment for older patients with acute myeloid leukemia not considered fit for intensive chemotherapy. 16857985

2006
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: 2322
Gene Symbol: FLT3
FLT3
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		1.000 GeneticVariation CLINVAR Acquisition of FLT3 or N-ras mutations is frequently associated with progression of myelodysplastic syndrome to acute myeloid leukemia. 14737077

2004
Entrez Id: 2322
Gene Symbol: FLT3
FLT3
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		1.000 CausalMutation CLINVAR Activating mutation of D835 within the activation loop of FLT3 in human hematologic malignancies. 11290608

2001
Entrez Id: 2322
Gene Symbol: FLT3
FLT3
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		1.000 CausalMutation CLINVAR Activity of ponatinib against clinically-relevant AC220-resistant kinase domain mutants of FLT3-ITD. 23430109

2013
Entrez Id: 2322
Gene Symbol: FLT3
FLT3
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		1.000 GeneticVariation CLINVAR Activity of ponatinib against clinically-relevant AC220-resistant kinase domain mutants of FLT3-ITD. 23430109

2013
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: 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: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.800 GeneticVariation CLINVAR Clinical impact of gene mutations and lesions detected by SNP-array karyotyping in acute myeloid leukemia patients in the context of gemtuzumab ozogamicin treatment: results of the ALFA-0701 trial. 24659740

2014