SF3B1, splicing factor 3b subunit 1, 23451

N. diseases: 200; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.040 GeneticVariation group BEFREE The pre-mRNA splicing factor SF3b1 exhibits recurrent mutations among hematologic malignancies and cancers, and consequently is a major therapeutic target of clinically-advanced spliceosome inhibitors. 31707043 2020
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.040 Biomarker group BEFREE Metformin, a widely used antidiabetic drug, has previously been demonstrated to exert anti-cancer effects in certain hematological malignancies, but its effects on the transformation of myelodysplastic syndromes to acute myeloid leukemia (AML-MDS) remain unclear. 31744691 2019
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.040 GeneticVariation group BEFREE Splicing factor 3b subunit 1 (<i>SF3B1</i>), a splicing factor modulating RNA alternative splicing, is frequently mutated in multiple hematological malignancies including myelodysplastic syndromes and chronic lymphocytic leukemia (CLL). 31168457 2019
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.040 Biomarker group BEFREE Sf3b1(+/-) mice maintained almost normal hematopoiesis and did not develop hematological malignancies during a long observation period. 24735968 2014