Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 Biomarker BEFREE Effect of iron chelation therapy on EPO-STAT5 signalling pathway and EPO resistance in iron-overloaded low-risk myelodysplastic syndrome patients. 31838956

2020

Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 Biomarker BEFREE Iron Support in Erythropoietin Treatment in Myelodysplastic Syndrome Patients Affected by Low-Risk Refractory Anaemia: Real-Life Evidence from an Italian Setting. 31533096

2020

Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 GeneticVariation BEFREE RUNX1 mutation in a patient with myelodysplastic syndrome and decreased erythrocyte expression of blood group A antigen. 31840280

2020

Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 GeneticVariation 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

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 Biomarker BEFREE Presence of CD34<sup>+</sup> in Megakaryocytes in Association With p53 Expression Predicts Unfavorable Prognosis in Low-risk Myelodysplastic Syndrome Patients. 30587636

2019

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 GeneticVariation BEFREE Jumping translocations: Short telomeres or pathogenic TP53 variants as underlying mechanism in acute myeloid leukemia and myelodysplastic syndrome? 30614587

2019

Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 AlteredExpression BEFREE Loss and gain of GATA2 expression has been implicated in myelodysplastic syndrome and acute myeloid leukemia (AML) yet the precise biological impact of GATA2 expression on human AML cell fate decisions remains ambiguous. 31434974

2019

Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 GeneticVariation 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

Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 Biomarker BEFREE Epoetin alfa for the treatment of myelodysplastic syndrome-related anemia: A review of clinical data, clinical guidelines, and treatment protocols. 31005849

2019

Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 Biomarker BEFREE Clinical effectiveness and safety of erythropoietin-stimulating agents for the treatment of low- and intermediate-1-risk myelodysplastic syndrome: a systematic literature review. 30549002

2019

Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 GeneticVariation BEFREE The GATA2 protein has been shown to be vital for proliferation and maintenance of hematopoietic stem cells; mutations result in variable phenotypes including myelodysplastic syndrome. 30933029

2019

Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 GeneticVariation BEFREE Patients with GATA2 mutation have a high risk of developing myelodysplastic syndrome or acute myeloid leukemia. 31035956

2019

Entrez Id: 4869
Gene Symbol: NPM1
NPM1
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 Biomarker BEFREE Fusion protein nucleophosmin-human myeloid leukemia factor 1 (NPM-hMLF1), which is associated with the pathologies of myelodysplastic syndrome and acute myeloid leukemia, was recently shown to suppress defects in the <i>Drosophila</i> FTLD model expressing the human <i>FUS</i> gene. 31136977

2019

Entrez Id: 54790
Gene Symbol: TET2
TET2
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 GeneticVariation 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

Entrez Id: 4869
Gene Symbol: NPM1
NPM1
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 GeneticVariation BEFREE Pattern associated leukemia immunophenotypes and measurable disease detection in acute myeloid leukemia or myelodysplastic syndrome with mutated NPM1. 30417521

2019

Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 GeneticVariation BEFREE The relation of SF3B1 mutation and intracellular iron in myelodysplastic syndrome with less than 5% bone marrow blasts. 30409066

2019

Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 Biomarker BEFREE 5-Formylcytosine and 5-hydroxymethyluracil as surrogate markers of TET2 and SF3B1 mutations in myelodysplastic syndrome, respectively. 31488558

2019

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 GeneticVariation BEFREE The high frequency of myeloproliferative features and JAK2 p.V617F mutation, and the low frequency of p53 dysregulation, suggest that fibrosis in the context of CMML has a different pathogenesis from that previously reported in myelodysplastic syndrome. 29596070

2018

Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 GeneticVariation BEFREE We report a case of Emberger syndrome with GATA2 mutation in a 9-year-old girl who presented with congenital sensorineural deafness, warts, lymphedema, and Myelodysplastic syndrome. 29189513

2018

Entrez Id: 947
Gene Symbol: CD34
CD34
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 Biomarker BEFREE Reduced-Intensity Allogeneic Transplant for Acute Myeloid Leukemia and Myelodysplastic Syndrome Using Combined CD34-Selected Haploidentical Graft and a Single Umbilical Cord Unit Compared with Matched Unrelated Donor Stem Cells in Older Adults. 29288821

2018

Entrez Id: 947
Gene Symbol: CD34
CD34
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 Biomarker BEFREE Multicenter comparison of CD34+ myeloid cell count by flow cytometry in low-risk myelodysplastic syndrome. Is it feasible? 28618451

2018

Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 Biomarker BEFREE Low B-cell, NK- cell, and monocyte numbers and myelodysplastic syndrome led to sequence GATA2. 29882021

2018

Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 GeneticVariation BEFREE RUNX1-PDCD6 fusion resulting from a novel t(5;21)(p15;q22) chromosome translocation in myelodysplastic syndrome secondary to chronic lymphocytic leukemia. 29672642

2018

Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 GeneticVariation BEFREE In this study, through a combinatorial molecular approach, we characterized a novel t(5;21)(q13;q22) translocation involving RUNX1 that was acquired during the progression of myelodysplastic syndrome to acute myeloid leukemia (AML) in a pediatric patient. 30157851

2018

Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.100 Biomarker BEFREE A predictive model of response to erythropoietin stimulating agents in myelodysplastic syndrome: from the Canadian MDS patient registry. 28975386

2017