SF3B1, splicing factor 3b subunit 1, 23451

N. diseases: 200; N. variants: 11
Disease: Miller Dieker syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.060 GeneticVariation disease BEFREE We found that there was a significant difference between SF3B1-mutant and SF3B1-wild-type MDS patients in intracellular iron III, intracellular iron IV and ring sideroblasts. 30409066 2019
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.060 AlteredExpression disease BEFREE SF3B1 deficiency impairs human erythropoiesis via activation of p53 pathway: implications for understanding of ineffective erythropoiesis in MDS. 29433555 2018
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.060 GeneticVariation disease BEFREE Clinical Outcomes With Ring Sideroblasts and SF3B1 Mutations in Myelodysplastic Syndromes: MDS Clinical Research Consortium Analysis. 29937400 2018
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.060 GeneticVariation disease BEFREE Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts. 27604819 2017
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.060 GeneticVariation disease BEFREE MDS is a disorder of the hematopoietic stem cell and we thus studied the transcriptome of CD34(+) cells from MDS patients with SF3B1 mutations using RNA sequencing. 25428262 2015
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.060 GeneticVariation disease BEFREE SF3B1 mutant MDS-initiating cells may arise from the haematopoietic stem cell compartment. 26643973 2015