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: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.010 GeneticVariation disease BEFREE SF3B1+ cases were enriched in primary myelofibrosis in both prefibrotic and fibrotic stage, but mutations of SF3B1 seem to occur only as a late event in the fibrotic phase of essential thrombocythemia and polycythemia vera. 30594750 2019