SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
Disease: Isochromosomes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		0.030 GeneticVariation phenotype BEFREE Myeloid neoplasms with isolated isochromosome 17q demonstrate a high frequency of mutations in SETBP1, SRSF2, ASXL1 and NRAS. 26883102 2016
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		0.030 GeneticVariation phenotype BEFREE The SETBP1 mutation was closely associated with higher white blood cell counts, isochromosome of 17q, monosomy 7, and mutations of ASXL1, EZH2 and SRSF2. 24127063 2014
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		0.030 GeneticVariation phenotype 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