|
Abnormal number of granulocyte precursors
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormal vision
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormal visual accommodation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormality of refraction
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Acute Erythroblastic Leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Among 34 patients diagnosed with AEL, diagnosis was shifted to MDS-EB in 28 patients (28/34, 82.3%) and MDS-U in 2 patients (2/34, 5.9%), while remained as AEL in 4 patients (4/34, 11.8%) according to 2016 WHO criteria.
|
29729583 |
2018 |
|
Acute leukemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Patient samples showed SF3B1 K700E mutations within the ptDNA of 4 patients with acute leukemia and 3 with myelodysplastic syndrome who were known to harbor this mutation.
|
28615231 |
2017 |
|
Acute monocytic leukemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
AML with LM-CH was found in 40 patients (23%) and was associated with clonal hematopoiesis of indeterminate potential years before AML, older age, secondary AML and more frequent MDS-type co-mutations (TET2, RUNX1 and EZH2).
|
27881874 |
2017 |
|
Adenoid Cystic Carcinoma
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Adult Acute Myeloblastic Leukemia
|
0.010 |
Biomarker
|
disease |
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 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells.
|
25428262 |
2015 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patient was initially diagnosed with low-risk myelodysplastic syndrome-refractory cytopenias and multilineage dysplasia (MDS-RCMD), progressed to AML after failing hypomethylating agent therapy.
|
28187034 |
2019 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Distinct iron architecture in SF3B1-mutant myelodysplastic syndrome patients is linked to an SLC25A37 splice variant with a retained intron.
|
24854990 |
2015 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The spliceosomal component Splicing Factor 3B, subunit 1 (SF3B1) is one of the most prevalently mutated factors in the bone marrow failure disorder myelodysplastic syndrome.
|
31300417 |
2019 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This model of secondary structure-dependent selection of cryptic 3'SS was found across multiple clonal processes associated with SF3B1 mutations (myelodysplastic syndrome and chronic lymphocytic leukemia).
|
27524419 |
2017 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations of SF3B1 gene have recently been identified in myelodysplastic syndrome and chronic lymphocytic leukemia.
|
23395771 |
2013 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patient samples showed SF3B1 K700E mutations within the ptDNA of 4 patients with acute leukemia and 3 with myelodysplastic syndrome who were known to harbor this mutation.
|
28615231 |
2017 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Inappropriately low hepcidin levels in patients with myelodysplastic syndrome carrying a somatic mutation of SF3B1.
|
23300182 |
2013 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The relation of SF3B1 mutation and intracellular iron in myelodysplastic syndrome with less than 5% bone marrow blasts.
|
30409066 |
2019 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
5-Formylcytosine and 5-hydroxymethyluracil as surrogate markers of TET2 and SF3B1 mutations in myelodysplastic syndrome, respectively.
|
31488558 |
2019 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In 2011, whole-exome sequencing studies showed recurrent somatic mutations of SF3B1 and other genes of the RNA splicing machinery in patients with myelodysplastic syndrome or myelodysplastic/myeloproliferative neoplasm.
|
23160465 |
2013 |
|
Agranulocytosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Alexithymia
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
MDS-16 scores were associated with global psychopathology, traumatic experiences, maladaptive personality features, alexithymia, dissociation, shame feelings, and anxious attachment styles.
|
31012744 |
2019 |
|
Anemia
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SF3B1 are frequently found in myelodysplastic syndromes (MDS), particularly in patients with refractory anemia with ringed sideroblasts (RARS), characterized by isolated anemia.
|
29433555 |
2018 |
|
Anemia
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
To explore the link between SF3B1 mutations and anaemia, we studied mutated RARS CD34(+) marrow cells with regard to transcriptome sequencing, splice patterns and mutational allele burden during erythroid differentiation.
|
26255870 |
2015 |
|
Anemia
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Early promising results have been reported with those novel agents for treating anemia in lower-risk MDS patients, and higher responses were observed among patients with ring sideroblasts and SF3B1 mutation.
|
31203517 |
2019 |