Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.160 | GeneticVariation | disease | BEFREE | We detected SF3B1 mutations in 15 cases (10%) and set to investigate the clinical, morphologic, and molecular features of SF3B1 mutated (SF3B1+) MPNs in comparison to SF3B1 wild-type (SF3B1-) cases and to identify distinctive features with myelodysplastic/myeloproliferative neoplasms with ring sideroblasts (RS) and thrombocytosis, which can show partial clinical and morphological overlap with MPNs. | 30594750 | 2019 | ||||
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0.160 | GeneticVariation | disease | BEFREE | Diagnostic criteria include the following: persistent thrombocytosis (>450 × 10<sup>9</sup> /L) with clustering of atypical megakaryocytes, refractory anemia, dyserythropoiesis with ring sideroblasts, and the presence of the spliceosome factor 3b subunit (SF3B1) mutation. | 30811101 | 2019 | ||||
|
0.160 | GeneticVariation | disease | BEFREE | Mutations of SF3B1 occur in up to 90% of patients with refractory anaemia with unilineage dysplasia (RARS) and 70% of those with refractory cytopenia with multilineage dysplasia and ring sideroblasts or RARS associated with marked thrombocytosis. | 27391606 | 2016 | ||||
|
0.160 | 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 | ||||
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0.160 | GeneticVariation | disease | BEFREE | Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis. | 23594705 | 2013 | ||||
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0.160 | GeneticVariation | disease | BEFREE | Refractory anemia with ring sideroblasts (RARS-T) associated with marked thrombocytosis is a myelodysplastic/myeloproliferative neoplasm associated with both SF3B1 and JAK2 or MPL mutations. | 24507814 | 2013 | ||||
|
0.160 | Biomarker | disease | HPO |