Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE The role of calreticulin mutations in myeloproliferative neoplasms. 31848992

2020

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 AlteredExpression BEFREE AURKA contributes to Janus-kinase-2 (JAK2) activation and increased AURKA protein levels were reported in CD34+ and CD41+ cells of myeloproliferative neoplasm patients, leading to aneuploidy and aberrant megakaryopoiesis. 31837568

2020

Entrez Id: 6790
Gene Symbol: AURKA
AURKA
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.010 AlteredExpression BEFREE AURKA contributes to Janus-kinase-2 (JAK2) activation and increased AURKA protein levels were reported in CD34+ and CD41+ cells of myeloproliferative neoplasm patients, leading to aneuploidy and aberrant megakaryopoiesis. 31837568

2020

Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.200 GeneticVariation BEFREE Chronic Myeloid Leukemia (CML) is a myeloproliferative neoplasm primarily due to the presence of the BCR-ABL fusion gene that produces the constitutively active protein, BCR-ABL. 31837444

2020

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker BEFREE Mutations in <i>CALR</i> observed in myeloproliferative neoplasms (MPN) were recently shown to be pathogenic via their interaction with MPL and the subsequent activation of the Janus Kinase - Signal Transducer and Activator of Transcription (JAK-STAT) pathway. 31810292

2019

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 AlteredExpression BEFREE The Expression of Myeloproliferative Neoplasm-Associated Calreticulin Variants Depends on the Functionality of ER-Associated Degradation. 31810292

2019

Entrez Id: 6646
Gene Symbol: SOAT1
SOAT1
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.100 AlteredExpression BEFREE The Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) share a common pathobiology of constitutive activation of the JAK and STAT pathway, despite having the 3 distinct phenotypes of essential thrombocythemia, polycythemia vera, and primary myelofibrosis. 31808852

2019

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker BEFREE Janus kinase 2 (JAK2) inhibitors represent a promising therapeutic class of anticancer agents against many myeloproliferative disorders. 31805692

2019

Entrez Id: 406938
Gene Symbol: MIR146A
MIR146A
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.010 Biomarker BEFREE Our results demonstrate potential of using myeloid cell-targeted miR146a mimics for treatment of inflammatory and myeloproliferative disorders. 31805184

2020

Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.010 Biomarker 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: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 AlteredExpression BEFREE The occurrence in most patients affected by myeloproliferative neoplasms (MPNs) of driver mutations resulting in the constitutive activation of JAK2-dependent signaling identified the deregulated JAK-STAT signal transduction pathway as the major pathogenic mechanism of MPNs. 31788449

2019

Entrez Id: 10594
Gene Symbol: PRPF8
PRPF8
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.010 Biomarker BEFREE Mutations in <i>LUC7L2, PRPF8,</i><i>SF3B1</i>, <i>SRSF2</i>, <i>U2AF1</i>, and <i>ZRSR2</i> genes occur at various frequencies ranging between 40% and 85% in different subtypes of myelodysplastic syndrome (MDS) and 5% and 10% of acute myeloid leukemia (AML) and myeloproliferative neoplasms (MPNs). 31766606

2019

Entrez Id: 613
Gene Symbol: BCR
BCR
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker BEFREE This study aimed to elucidate patterns of disease transformation to secondary myelofibrosis (SMF) or secondary acute myeloid leukemia (SAML) and the development of second primary malignancies in South Korean patients with BCR-ABL1-negative myeloproliferative neoplasms (MPNs). 31765478

2019

Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.200 Biomarker BEFREE This study aimed to elucidate patterns of disease transformation to secondary myelofibrosis (SMF) or secondary acute myeloid leukemia (SAML) and the development of second primary malignancies in South Korean patients with BCR-ABL1-negative myeloproliferative neoplasms (MPNs). 31765478

2019

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker 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: 79885
Gene Symbol: HDAC11
HDAC11
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.010 Biomarker BEFREE HDAC11 Deficiency or Inhibition Disrupts Oncogene-Induced Stress Hematopoiesis in Myeloproliferative Neoplasms. 31750881

2020

Entrez Id: 10013
Gene Symbol: HDAC6
HDAC6
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.010 Biomarker 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: 2623
Gene Symbol: GATA1
GATA1
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.200 AlteredExpression BEFREE In 2002, we discovered that mice carrying the hypomorphic Gata1<sup>low</sup> mutation that reduces expression of the transcription factor GATA1 in megakaryocytes (Gata1<sup>low</sup> mice) develop myelofibrosis, a phenotype that recapitulates the features of primary myelofibrosis (PMF), the most severe of the Philadelphia-negative myeloproliferative neoplasms (MPNs). 31749302

2020

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker BEFREE Developing Janus kinase 2 (JAK2) inhibitors has become a significant focus for small-molecule drug discovery programs in recent years because the inhibition of JAK2 may be an effective approach for the treatment of myeloproliferative neoplasm. 31746601

2019

Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.200 GeneticVariation BEFREE JAK2V617F is the most common mutation in patients with BCR-ABL negative myeloproliferative neoplasms (MPNs). 31732720

2020

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.010 Biomarker BEFREE Hypoxia-inducible factor 1 (HIF-1) is a new therapeutic target in JAK2V617F-positive myeloproliferative neoplasms. 31728053

2020

Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.010 Biomarker BEFREE Hypoxia-inducible factor 1 (HIF-1) is a new therapeutic target in JAK2V617F-positive myeloproliferative neoplasms. 31728053

2020

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker BEFREE Aberrant JAK2 tyrosine kinase signaling drives the development of Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs), including polycythemia vera, essential thrombocythemia, and primary myelofibrosis. 31725895

2019

Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.100 Biomarker BEFREE Metabolic Effects of JAK1/2 Inhibition in Patients with Myeloproliferative Neoplasms. 31719581

2019

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Sequential mutational evaluation of CALR -mutated myeloproliferative neoplasms with thrombocytosis reveals an association between CALR allele burden evolution and disease progression. 31710700

2020