Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10013
Gene Symbol: HDAC6
HDAC6
0.010 Biomarker disease BEFREE Histone deacetylase 6 (HDAC6) controls JAK2 translation and protein stability, and has been implicated in JAK2-driven diseases best exemplified by Myeloproliferative Neoplasms (MPNs). 31750881 2020
Entrez Id: 1763
Gene Symbol: DNA2
DNA2
0.010 GeneticVariation disease BEFREE Our findings support the pathogenicity of these variants as biallelic hypomorphic mutations, establishing DNA2 as an MPD disease gene. 31045292 2019
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A
0.010 Biomarker disease BEFREE This was initially thought to be secondary to a myeloproliferative disorder but a positron emission tomography scan showed uptake in the left hip which corresponded to what was previously reported as a subchondral cyst on CT. A biopsy showed this to be a plasmacytoma in the context of a normal serum protein electrophoresis and a polyclonal increase in light chains on serum-free light chain estimation. 31801774 2019
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.010 Biomarker disease BEFREE These results suggest that VDR and macrophages may be novel therapeutic targets for MPNs with myelofibrosis. 30718230 2019
Entrez Id: 3654
Gene Symbol: IRAK1
IRAK1
0.010 Biomarker disease BEFREE This study identified Hippo kinase MST1 (STK4) as having a central role in the biology of del(20q)-associated hematologic malignancies and revealed a novel molecular basis of adverse MPN progression that may be therapeutically exploitable via IRAK1 inhibition. 31434702 2019
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
0.010 Biomarker disease BEFREE Mutations of <i>SF3B1</i> are commonly seen in myelodysplastic syndromes with ring sideroblasts (MDS-RS)and MDS/myeloproliferative neoplasm (MPN-RS-T). 31473630 2019
Entrez Id: 9212
Gene Symbol: AURKB
AURKB
0.010 Biomarker disease BEFREE These findings indicate that AURKA and AURKB participate in the JAK2/STAT signaling pathway and contribute to the MPN phenotype. 31289316 2019
Entrez Id: 1021
Gene Symbol: CDK6
CDK6
0.010 Biomarker disease BEFREE Our findings thus provide a rationale for targeting CDK6 in MPN. 30635286 2019
Entrez Id: 117
Gene Symbol: ADCYAP1R1
ADCYAP1R1
0.010 Biomarker disease BEFREE Surprisingly, we found a very low PAC-1 binding capacity in MPN patients; however, the expression of PAC-1 was almost completely recovered with aspirin intake. 31792942 2019
Entrez Id: 5209
Gene Symbol: PFKFB3
PFKFB3
0.010 Biomarker disease BEFREE We studied the consequences of elevated levels of Pfkfb3, a key regulatory enzyme of glycolysis, and found that pharmacological inhibition of Pfkfb3 with the small molecule 3PO reversed hypoglycemia and reduced hematopoietic manifestations of MPNs. 31511238 2019
Entrez Id: 6468
Gene Symbol: FBXW4
FBXW4
0.010 Biomarker disease BEFREE In the current retrospective study, we assessed response rates as adjudicated by the IWG (International Working Group) MDS (myelodysplastic syndrome) and MDS/MPN myeloproliferative neoplasm overlap syndrome response criteria, in 121 CMML patients treated with Azacitidine (AZA, n = 56) and Decitabine (DAC, n = 65). 30964202 2019
Entrez Id: 4485
Gene Symbol: MST1
MST1
0.010 AlteredExpression disease BEFREE Through assessment of patient gene expression, we have identified STK4 (encoding Hippo kinase MST1) as a 20q gene that is downregulated below haploinsufficient amounts in myelodysplastic syndrome (MDS) and myeloproliferative neoplasm (MPN). 31434702 2019
Entrez Id: 10524
Gene Symbol: KAT5
KAT5
0.010 Biomarker disease BEFREE Since loss-of-function mutations in the human homologs of E(Pc) and Tip60 are frequently observed in cancer, our work could lead to new treatments for MPN patients.This article has an associated First Person interview with the first author of the paper. 31072879 2019
Entrez Id: 3423
Gene Symbol: IDS
IDS
0.010 GeneticVariation disease BEFREE Members of the IDS were invited to submit any case of histologically confirmed MPD, as well as other benign and malignant dermatoses that involve the nipple and areola complex. 31270878 2019
Entrez Id: 2876
Gene Symbol: GPX1
GPX1
0.010 Biomarker disease BEFREE Antioxidants superoxide dismutase 2 (SOD2) and glutathione peroxidase 1 (GPx1) gene expression were increased in circulatory CD34+ cells, while SOD1 and GPx enzymes were reduced in the erythrocytes of MPN. 30570876 2019
Entrez Id: 6789
Gene Symbol: STK4
STK4
0.010 Biomarker disease BEFREE This study identified Hippo kinase MST1 (STK4) as having a central role in the biology of del(20q)-associated hematologic malignancies and revealed a novel molecular basis of adverse MPN progression that may be therapeutically exploitable via IRAK1 inhibition. 31434702 2019
Entrez Id: 1316
Gene Symbol: KLF6
KLF6
0.010 Biomarker disease BEFREE Surprisingly, we found a very low PAC-1 binding capacity in MPN patients; however, the expression of PAC-1 was almost completely recovered with aspirin intake. 31792942 2019
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
0.010 AlteredExpression disease BEFREE Here, we report that impaired GATA2 expression induces myelodysplastic and myeloproliferative neoplasm development in elderly animals, and this neoplasm resembles chronic myelomonocytic leukemia in humans. 30710465 2019
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
0.010 GeneticVariation disease BEFREE Co-occurrence of these disease entities is very rare and typically involves presence of common p190 or p210 BCR/ABL fusion transcript (responsible for CML) along with JAK2V617F mutation (most common driver mutation in Ph-negative MPNs). 30463063 2019
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
0.010 Biomarker disease BEFREE Antioxidants superoxide dismutase 2 (SOD2) and glutathione peroxidase 1 (GPx1) gene expression were increased in circulatory CD34+ cells, while SOD1 and GPx enzymes were reduced in the erythrocytes of MPN. 30570876 2019
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.010 Biomarker disease BEFREE Regarding DNA replication, we found that ruxolitinib prevented the IL-6 augmentation of MPN granulocytes frequency in the S phase of the cell cycle (up to 2.9 fold). 30571852 2019
Entrez Id: 7531
Gene Symbol: YWHAE
YWHAE
0.010 Biomarker disease BEFREE Mutations of <i>SF3B1</i> are commonly seen in myelodysplastic syndromes with ring sideroblasts (MDS-RS)and MDS/myeloproliferative neoplasm (MPN-RS-T). 31473630 2019
Entrez Id: 2672
Gene Symbol: GFI1
GFI1
0.010 Biomarker disease BEFREE This suggests that in contrast to absence of GFI1, KD of GFI1 leads to the accumulation of myeloid cells because sufficient amount of GFI1 is present to impede p53-mediated cell death, leading to a fatal MPN. 29925903 2019
Entrez Id: 1844
Gene Symbol: DUSP2
DUSP2
0.010 Biomarker disease BEFREE Surprisingly, we found a very low PAC-1 binding capacity in MPN patients; however, the expression of PAC-1 was almost completely recovered with aspirin intake. 31792942 2019
Entrez Id: 51428
Gene Symbol: DDX41
DDX41
0.010 GeneticVariation disease BEFREE We identified 34 patients with myeloid neoplasms with DDX41 abnormalities; 26 (76%) men and 8 women (24%) [median age, 70 years], 20 acute myeloid leukemia (AML), 10 myelodysplastic syndrome (MDS), 1 chronic myelomonocytic leukemia (CMML) and 3 myeloproliferative neoplasms (MPN). 30963592 2019