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 GeneticVariation UNIPROT We describe a family in whom three members affected by acute myeloid leukemia (AML) had an identical, 212delC mutation in CEBPA, the gene encoding the granulocytic differentiation factor C/EBPalpha. 15575056

2004

Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 GeneticVariation UNIPROT Mutation of CEBPA in familial acute myeloid leukemia. 15575056

2004

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 GeneticVariation UNIPROT In conclusion, mutation of CEBPA is a recurrent finding in AML and appears specific to the intermediate cytogenetic risk group patients. 12661007

2003

Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 GeneticVariation UNIPROT To confirm these initial findings, 99 patients with AML FAB type M1 or M2 were screened for CEBPA mutations by use of a PCR-single-strand conformational polymorphism and sequencing approach. 12661007

2003

Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 GeneticVariation UNIPROT Mutations of CEBPA in acute myeloid leukemia FAB types M1 and M2. 12661007

2003

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 Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBPalpha), in acute myeloid leukemia. 11242107

2001

Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 GeneticVariation UNIPROT Here we identify heterozygous mutations in CEBPA in ten patients with acute myeloid leukemia (AML). 11242107

2001

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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation UNIPROT We found three JAK2 mutations in the 113 acute myelogenous leukemias (AMLs) (2.7%), but none in other cancers. 16247455

2006

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation UNIPROT None of the AML patients with the JAK2 V617F mutation had a history of previous hematologic disorders. 16247455

2006

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation UNIPROT The JAK2 V617F mutation in de novo acute myelogenous leukemias. 16247455

2006

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation UNIPROT This is the first report on the JAK2 gene mutation in AML, and the data indicated that the JAK2 gene mutation may not only contribute to the development of chronic myeloid disorders, but also to some AMLs. 16247455

2006

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation UNIPROT

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 GeneticVariation UNIPROT

Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.560 GeneticVariation UNIPROT Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression. 23889083

2013

Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.560 GeneticVariation UNIPROT SETBP1 mutation analysis in 944 patients with MDS and AML. 23648668

2013

Entrez Id: 54790
Gene Symbol: TET2
TET2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.400 GeneticVariation UNIPROT

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.320 GeneticVariation UNIPROT Identification of functional cooperative mutations of SETD2 in human acute leukemia. 24509477

2014

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.320 GeneticVariation UNIPROT Solution structure of the Set2-Rpb1 interacting domain of human Set2 and its interaction with the hyperphosphorylated C-terminal domain of Rpb1. 16314571

2005

Entrez Id: 11122
Gene Symbol: PTPRT
PTPRT
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.300 GeneticVariation UNIPROT

Entrez Id: 339970
Gene Symbol: GCOM2
GCOM2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.300 GeneticVariation UNIPROT

Entrez Id: 1880
Gene Symbol: GPR183
GPR183
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.300 GeneticVariation UNIPROT