Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.020 GeneticVariation BEFREE Our results suggest that mutations in SF3B1 are not a rare event in MPNs, especially in primary myelofibrosis and during late fibrotic stages of essential thrombocythemia and polycythemia vera, but are not associated with myelodysplastic progression. 30594750

2019
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.020 Biomarker 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