SF3B1, splicing factor 3b subunit 1, 23451

N. diseases: 200; N. variants: 11
Disease: Primary Myelofibrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.040 GeneticVariation disease BEFREE Myelofibrotic transformation was more frequent in patients with additional mutations, especially in SF3B1 (p = 0.02) and IDH1/2 (p < 0.0001) although a persistently high or a progressive increase of the JAK2V617F allele burden while receiving cytoreduction was the strongest predictor of MF transformation (HR 10.8, 95% CI 2.4-49.1, p = 0.002). 29181548 2018
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.040 GeneticVariation disease BEFREE Gene mutations in JAK2, MPL, or CALR were not observed; however, mutations in genes including SRSF2 and SF3B1 occurred in this twin pair with childhood PMF. 28185911 2017
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.040 GeneticVariation disease BEFREE Moreover, significantly more mutated splicing genes (SF3B1, SRSF2 and U2AF1) were present in PMF (0·60 mutated genes/patient) compared to ET (0·15) while no mutations in splicing genes were found in PV. 27447873 2016
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.040 GeneticVariation disease BEFREE We recently reported on the lack of prognostic significance for SF3B1 mutations in both MDS-RS and primary myelofibrosis (PMF). 22968464 2012