Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
0.310 GeneticVariation group BEFREE To gain more insight into EZH2 pathology, we sought to genetically characterize a cohort of 41 EZH2-mutated MDS/MPN patients using targeted deep next-generation sequencing (NGS), colony-forming progenitor assays and transcriptome analysis. 28626218 2017
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
0.310 Biomarker group CTD_human Screening of a total of 614 individuals with myeloid disorders revealed 49 monoallelic or biallelic EZH2 mutations in 42 individuals; the mutations were found most commonly in those with myelodysplastic/myeloproliferative neoplasms (27 out of 219 individuals, or 12%) and in those with myelofibrosis (4 out of 30 individuals, or 13%). 20601953 2010
Entrez Id: 11083
Gene Symbol: DIDO1
DIDO1
0.200 Biomarker group MGD Dido gene expression alterations are implicated in the induction of hematological myeloid neoplasms. 16127461 2005
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.070 GeneticVariation group BEFREE Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS), now classified under myelodysplastic syndromes with RS (MDS-RS) and RARS with thrombocytosis (RARS-T); now called myelodysplastic/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T). 30618061 2019
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.070 GeneticVariation group 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
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.070 GeneticVariation group BEFREE Spliceosomal mutations, especially mutations in SF3B1, are frequently (>80%) identified in patients with refractory anemia with ringed sideroblasts (RARS) and myelodysplastic/myeloproliferative neoplasms with ringed sideroblasts and thrombocytosis (MDS/MPN-RS-T; previously known as RARS-T), and SF3B1 mutations have a high positive predictive value for disease phenotype with ringed sideroblasts. 28466384 2017
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.070 GeneticVariation group BEFREE Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS), now classified under myelodysplastic syndromes with RS (MDS-RS) and RARS with thrombocytosis (RARS-T); now called myelodysplastic/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T). 28188970 2017
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.070 GeneticVariation group 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
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.070 GeneticVariation group 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
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.070 GeneticVariation group BEFREE Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms. 21998214 2011
Entrez Id: 613
Gene Symbol: BCR
BCR
0.040 Biomarker group BEFREE A biopsy of the ulcerative lesions finally led to the diagnosis of neutrophilic panniculitis, which was sustained by a hybrid myelodysplastic/myeloproliferative disorder like BCR-ABL1-negative atypical chronic myeloid leukaemia. 31594785 2019
Entrez Id: 25
Gene Symbol: ABL1
ABL1
0.040 Biomarker group BEFREE Myeloproliferative neoplasms (BCR-ABL1 negative) and myelodysplastic/myeloproliferative neoplasms: current diagnostic principles and upcoming updates. 27161873 2016
Entrez Id: 613
Gene Symbol: BCR
BCR
0.040 Biomarker group BEFREE Myeloproliferative neoplasms (BCR-ABL1 negative) and myelodysplastic/myeloproliferative neoplasms: current diagnostic principles and upcoming updates. 27161873 2016
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.040 GeneticVariation group BEFREE Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), as well as in chronic myelogenous leukemia, that are negative for the JAK2 V617F gene mutation; no FLT3 mutation has been found in JAK2-positive MPNs, suggesting that the mutations are mutually exclusive. 23846442 2013
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.040 GeneticVariation group 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
Entrez Id: 25
Gene Symbol: ABL1
ABL1
0.040 Biomarker group BEFREE We investigated 15,542 patients with suspected BCR-ABL1- negative myeloproliferative or myelodysplastic/myeloproliferative neoplasm (including 359 chronic myelomonocytic leukemia) by a molecular marker set. 22511494 2012
Entrez Id: 25
Gene Symbol: ABL1
ABL1
0.040 Biomarker group BEFREE The microRNA/miR deregulation in BCR-ABL-negative myelodysplastic-myeloproliferative neoplasms (MDS/MPN) is not known. 20842500 2011
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.040 GeneticVariation group BEFREE Association of JAK2 mutation status and cytogenetic abnormalities in myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms. 21502425 2011
Entrez Id: 613
Gene Symbol: BCR
BCR
0.040 Biomarker group BEFREE Atypical CML should therefore be considered as a JAK2 negative chronic myeloid neoplasm that remains properly categorized, alongside chronic myelomonocytic leukemia and juvenile myelomonocytic leukemia, within the WHO group of myelodysplastic/myeloproliferative neoplasms. 18555525 2008
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.040 Biomarker group BEFREE Atypical CML should therefore be considered as a JAK2 negative chronic myeloid neoplasm that remains properly categorized, alongside chronic myelomonocytic leukemia and juvenile myelomonocytic leukemia, within the WHO group of myelodysplastic/myeloproliferative neoplasms. 18555525 2008
Entrez Id: 25
Gene Symbol: ABL1
ABL1
0.040 Biomarker group BEFREE The BCR-ABL-negative chronic myeloproliferative disorders (CMPD) and myelodysplastic/myeloproliferative diseases (MDS/MPD) are a spectrum of related conditions for which the molecular pathogenesis is poorly understood. 12542482 2003
Entrez Id: 613
Gene Symbol: BCR
BCR
0.040 Biomarker group BEFREE Ph negative CML represents a heterogeneous group of myeloproliferative/myelodysplastic disorders. 3279513 1988
Entrez Id: 54790
Gene Symbol: TET2
TET2
0.030 GeneticVariation group BEFREE Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS), now classified under myelodysplastic syndromes with RS (MDS-RS) and RARS with thrombocytosis (RARS-T); now called myelodysplastic/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T). 30618061 2019
Entrez Id: 54790
Gene Symbol: TET2
TET2
0.030 GeneticVariation group BEFREE Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS), now classified under myelodysplastic syndromes with RS (MDS-RS) and RARS with thrombocytosis (RARS-T); now called myelodysplastic/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T). 28188970 2017
Entrez Id: 54790
Gene Symbol: TET2
TET2
0.030 GeneticVariation group BEFREE Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms. 19372255 2009