CEBPA, CCAAT enhancer binding protein alpha, 1050

N. diseases: 201; N. variants: 21
Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 GeneticVariation disease BEFREE Familial CEBPA-mutated acute myeloid leukemia. 28637622 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 GeneticVariation disease BEFREE Disease evolution and outcomes in familial AML with germline CEBPA mutations. 26162409 2015
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 GeneticVariation disease BEFREE CCAAT/enhancer-binding protein-α (C/EBPα/CEBPA) is mutated in approximately 8% of acute myeloid leukemia (AML) in both familial and sporadic AML and, with FLT3 and NPM1, has received most attention as a predictive marker of outcome in patients with normal karyotype disease. 22371011 2012
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 GeneticVariation disease BEFREE Germline mutations in RUNX1 result in familial platelet disorder with propensity to myeloid malignancy and inherited mutations of CEBPA predispose to AML. 18173751 2008