SF3B1, splicing factor 3b subunit 1, 23451

N. diseases: 200; N. variants: 11
Disease: Anemia, Macrocytic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		0.020 GeneticVariation disease BEFREE Sf3b1(K700E) mice develop macrocytic anemia due to a terminal erythroid maturation defect, erythroid dysplasia, and long-term hematopoietic stem cell (LT-HSC) expansion. 27622333 2016
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		0.020 Biomarker disease BEFREE Sf3b1 (+/-) exhibited macrocytic anemia (MCV: 49.5 ± 1.6 vs 47.2 ± 1.4; Hgb: 5.5 ± 1.7 vs 7.2 ± 1.0) and thrombocytosis (PLTs: 911.4 ± 212.1 vs 878.4 ± 240.9) compared to Sf3b1 (+/+) mice. 25481243 2014