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 Biomarker CLINGEN Interestingly, additional members in the families of both of these patients have been affected by AML, and the germline CEBPA mutations were also observed in these patients. 18768433

2008

Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 Biomarker CLINGEN Mutations in the CEBPA gene are present in 7%-10% of human patients with acute myeloid leukemia (AML). 18394553

2008

Entrez Id: 2322
Gene Symbol: FLT3
FLT3
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 Biomarker CTD_human Dual treatment with FLT3 inhibitor SU11657 and doxorubicin increases survival of leukemic mice. 17184839

2007

Entrez Id: 2322
Gene Symbol: FLT3
FLT3
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 Biomarker CTD_human Flt3 internal tandem duplication (Flt3-ITD) is a prevalent mutation in acute myeloid leukemia (AML). 17050201

2006

Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 Biomarker CLINGEN Further evidence that germline CEBPA mutations cause dominant inheritance of acute myeloid leukaemia. 15902292

2005

Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 GeneticVariation UNIPROT CEBPA mutation is apparently the primary event in the development of AML in this family. 15575056

2004

Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 Biomarker CLINGEN CEBPA mutation is apparently the primary event in the development of AML in this family. 15575056

2004

Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 GeneticVariation UNIPROT CEBPA mutation status was not demonstrated to be of prognostic importance in this patient group, although this may reflect the selection and size of the AML population studied. 12661007

2003

Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 GeneticVariation UNIPROT Ours is the first report of CEBPA mutations in human neoplasia, and such mutations are likely to induce the differentiation block found in AML. 11242107

2001

Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 Biomarker CLINGEN C/EBPalpha bypasses granulocyte colony-stimulating factor signals to rapidly induce PU.1 gene expression, stimulate granulocytic differentiation, and limit proliferation in 32D cl3 myeloblasts. 10397723

1999

Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 Biomarker CLINGEN A novel temporal expression pattern of three C/EBP family members in differentiating myelomonocytic cells. 1391942

1992

Entrez Id: 2322
Gene Symbol: FLT3
FLT3
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 CausalMutation CGI

Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 CausalMutation CGI

Entrez Id: 2322
Gene Symbol: FLT3
FLT3
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 GeneticVariation UNIPROT

Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 Biomarker CTD_human Subtype-specific regulatory network rewiring in acute myeloid leukemia. 30420649

2019

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 Biomarker CTD_human Dynamics of clonal evolution in myelodysplastic syndromes. 27992414

2017

Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 Biomarker GENOMICS_ENGLAND Genetic predisposition to hematologic malignancies: management and surveillance. 28600339

2017

Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 Biomarker GENOMICS_ENGLAND Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 27418648

2016

Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 Biomarker GENOMICS_ENGLAND The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. 27069254

2016

Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 Biomarker GENOMICS_ENGLAND The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. 27069254

2016

Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 Biomarker CTD_human Outside of signaling alterations, RUNX1-RUNX1T1 and CBFB-MYH11 AMLs demonstrated remarkably different spectra of cooperating mutations, as RUNX1-RUNX1T1 cases harbored recurrent mutations in DHX15 and ZBTB7A, as well as an enrichment of mutations in epigenetic regulators, including ASXL2 and the cohesin complex. 27798625

2016

Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 Biomarker CTD_human Our findings indicate that haploinsufficiency of GATA2 underlies primary lymphedema and predisposes to acute myeloid leukemia in this syndrome. 21892158

2011

Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 Biomarker GENOMICS_ENGLAND We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family. 21892162

2011

Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 Biomarker CTD_human We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family. 21892162

2011

Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 Biomarker CTD_human Epigenetic-based treatments emphasize the biologic differences of core-binding factor acute myeloid leukemias. 18206229

2008