SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
Disease: Leukemia, Myelomonocytic, Chronic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		0.080 Biomarker disease BEFREE Blast content of the bone marrow revealed an inverse correlation with the mutation status of SETBP1 in aCML and TET2 in CMML, respectively. 30635983 2019
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		0.080 GeneticVariation disease BEFREE Clinical significance of CSF3R, SRSF2 and SETBP1 mutations in chronic neutrophilic leukemia and chronic myelomonocytic leukemia. 28209919 2017
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		0.080 GeneticVariation disease BEFREE Current evidence shows that SETBP1 mutation is associated with a poor prognosis in patients with MDS and CMML, but not in patients with CNL. 28158286 2017
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		0.080 Biomarker disease BEFREE ASXL1/SRSF2/SF3B1/U2AF1/SETBP1 mutational frequencies were not significantly different between time of CMML diagnosis and BT. 25645147 2015
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		0.080 GeneticVariation disease BEFREE The study also suggests pathogenetic roles for SETBP1 and ASXL1 mutations in disease evolution into blast phase disease and CMML, respectively. 25850813 2015
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		0.080 GeneticVariation disease BEFREE ASXL1 and SETBP1 mutations and their prognostic contribution in chronic myelomonocytic leukemia: a two-center study of 466 patients. 24695057 2014
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		0.080 GeneticVariation disease BEFREE These data suggest that SETBP1 mutations may play a role in MDS and chronic myelomonocytic leukaemia disease progression. 23889083 2013
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		0.080 GeneticVariation disease BEFREE Somatic mutations of SETBP1 seem to cause gain of function, are associated with myeloid leukemic transformation and convey poor prognosis in myelodysplastic syndromes (MDS) and CMML. 23832012 2013