SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
Disease: Multiple Myeloma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.020 GeneticVariation disease BEFREE Intronic-PREX1 (20q13.13), a reported locus predisposing to MM was confirmed to have contribution to excess MGUS risk in interaction with SETBP1, a well-established candidate predisposing to myeloid malignancies. 30134812 2018
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.020 GeneticVariation disease BEFREE We report, for the first time, the occurrence of a SETBP1 mutation in two cases, as well as changes in G-CSF and IL-6 in SETBP1 wild type vs. mutated patients that are supportive of a hypothesis that neutrophilia associated with plasma cell neoplasms may sometimes be reactive and may sometimes represent a second clonal entity. 26389776 2016