SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
Disease: Monosomy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026499
Disease: Monosomy
Monosomy 		0.030 GeneticVariation group BEFREE Recurrent somatic lesions comprise monosomy 7 and trisomy 8 karyotypes and mutations in SETBP1 and ASXL1 genes. 28637621 2017
CUI: C0026499
Disease: Monosomy
Monosomy 		0.030 GeneticVariation group BEFREE SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations. 23628959 2013
CUI: C0026499
Disease: Monosomy
Monosomy 		0.030 AlteredExpression group BEFREE The prevalence of SETBP1 overexpression in AML at diagnosis (n = 192) was 27.6% and was associated with unfavorable cytogenetic prognostic group, monosomy 7, and EVI1 overexpression (P < .01). 19965692 2010