SF3B1, splicing factor 3b subunit 1, 23451

N. diseases: 200; N. variants: 11
Disease: Refractory cytopenia with multilineage dysplasia and ringed sideroblasts ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1301356
Disease: Refractory cytopenia with multilineage dysplasia and ringed sideroblasts
Refractory cytopenia with multilineage dysplasia and ringed sideroblasts 		0.020 GeneticVariation disease BEFREE Mutations of SF3B1 occur in up to 90% of patients with refractory anaemia with unilineage dysplasia (RARS) and 70% of those with refractory cytopenia with multilineage dysplasia and ring sideroblasts or RARS associated with marked thrombocytosis. 27391606 2016
CUI: C1301356
Disease: Refractory cytopenia with multilineage dysplasia and ringed sideroblasts
Refractory cytopenia with multilineage dysplasia and ringed sideroblasts 		0.020 GeneticVariation disease BEFREE The independent prognostic value of SF3B1 mutation was retained in MDS without excess blasts, as well as in sideroblastic categories (RARS and RCMD-RS). 25957392 2015