Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 81608
Gene Symbol: FIP1L1
FIP1L1
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.100 GeneticVariation BEFREE Myeloproliferative neoplasms associated with FIP1L1-PDGFR rearrangements represent a rare subset of myeloid and lymphoid malignancies, characterised by the presence of eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1 genes. 24460680

2014

Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.200 GeneticVariation BEFREE Myeloproliferative neoplasms associated with FIP1L1-PDGFR rearrangements represent a rare subset of myeloid and lymphoid malignancies, characterised by the presence of eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1 genes. 24460680

2014

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Myeloproliferative neoplasms (MPNs) are stem cell-derived clonal myeloid malignancies characterized by a unique somatic mutational profile since three mutually exclusive mutations (JAK2V617F, MPL, and CALR) sustain the great majority of the cases. 25139710

2014

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Myeloproliferative neoplasms (MPNs) are stem cell-derived clonal myeloid malignancies characterized by a unique somatic mutational profile since three mutually exclusive mutations (JAK2V617F, MPL, and CALR) sustain the great majority of the cases. 25139710

2014

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Myeloproliferative neoplasms (MPNs) frequently have an activating mutation in the gene encoding Janus kinase 2 (JAK2). 25538080

2014

Entrez Id: 947
Gene Symbol: CD34
CD34
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.050 AlteredExpression BEFREE Myeloproliferative neoplasms (MPN) are chronic myeloid cancers thought to arise at the level of CD34+ hematopoietic stem/progenitor cells. 26468945

2015

Entrez Id: 613
Gene Symbol: BCR
BCR
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Myeloproliferative neoplasms (BCR-ABL1 negative) and myelodysplastic/myeloproliferative neoplasms: current diagnostic principles and upcoming updates. 27161873

2016

Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.200 GeneticVariation BEFREE Myeloproliferative neoplasms (BCR-ABL1 negative) and myelodysplastic/myeloproliferative neoplasms: current diagnostic principles and upcoming updates. 27161873

2016

Entrez Id: 83886
Gene Symbol: PRSS27
PRSS27
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.030 GeneticVariation BEFREE Myeloproliferative neoplasms with myelofibrosis (MPN-MF) demonstrate constitutive activation of Janus kinase/signal transducer and activator of transcription (JAK/STAT) signaling that responds to treatment with the JAK1 and 2 kinase inhibitor (JAKi) ruxolitinib. 27677740

2017

Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.100 AlteredExpression BEFREE Myeloproliferative neoplasms with myelofibrosis (MPN-MF) demonstrate constitutive activation of Janus kinase/signal transducer and activator of transcription (JAK/STAT) signaling that responds to treatment with the JAK1 and 2 kinase inhibitor (JAKi) ruxolitinib. 27677740

2017

Entrez Id: 4602
Gene Symbol: MYB
MYB
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.040 AlteredExpression BEFREE Myeloproliferative neoplasms (MPN), which overproduce blood cells in the bone marrow, have recently been linked with a genetically determined decrease in expression of the MYB transcription factor. 27748374

2017

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Myeloproliferative neoplasms such as polycythemia vera (PV), which are associated with the JAK mutation V617F, remain incurable despite progress in the use of JAK2 inhibitors for treatment of some of these diseases. 27784744

2017

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Myeloproliferative neoplasms (MPNs) feature a malignant clone containing the JAK2 V617F mutation, or another mutation causing dysregulated JAK2 kinase activity. 28008177

2017

Entrez Id: 613
Gene Symbol: BCR
BCR
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Myeloproliferative neoplasms with t(8;22)(p11.2;q11.2)/BCR-FGFR1: a meta-analysis of 20 cases shows cytogenetic progression with B-lymphoid blast phase. 28551329

2017

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation BEFREE Myeloproliferative neoplasms with t(8;22)(p11.2;q11.2)/BCR-FGFR1: a meta-analysis of 20 cases shows cytogenetic progression with B-lymphoid blast phase. 28551329

2017

Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.200 Biomarker BEFREE Myeloproliferative neoplasms are characterized by transduction pathway recognized as mutually exclusive molecular abnormalities such as BCR-ABL translocation, JAK2V617F or JAK2 exon 12 mutations, MPL w515, and CALR mutations. 28556926

2018

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Myeloproliferative neoplasms are characterized by transduction pathway recognized as mutually exclusive molecular abnormalities such as BCR-ABL translocation, JAK2V617F or JAK2 exon 12 mutations, MPL w515, and CALR mutations. 28556926

2018

Entrez Id: 2735
Gene Symbol: GLI1
GLI1
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.010 Biomarker BEFREE Myeloproliferative neoplasm cells recruit Gli1 positive mesenchymal stromal cells to transdifferentiate into fibrosis-causing myofibroblasts, a process that can be inhibited by a Gli inhibitor. 28566426

2017

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Myeloproliferative neoplasms are present in 40% of patients and are usually associated with the V617F-JAK2 mutation in myeloid cells, in particular peripheral blood granulocytes. 28685257

2018

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Myeloproliferative neoplasms (MPNs) often carry JAK2(V617F), MPL(W515L), or CALR(del52) mutations. 29042365

2017

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Myeloproliferative neoplasms (MPNs) often carry JAK2(V617F), MPL(W515L), or CALR(del52) mutations. 29042365

2017

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Myeloproliferative neoplasms (MPNs) often carry JAK2(V617F), MPL(W515L), or CALR(del52) mutations. 29042365

2017

Entrez Id: 613
Gene Symbol: BCR
BCR
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Myeloproliferative neoplasms (MPNs) are classically divided into BCR RhoGEF and GTPase activating protein (BCR)-ABL proto‑oncogene 1 non‑receptor tyrosine kinase (ABL) positive chronic myeloid leukemia (CML) and BCR‑ABL negative MPNs, including essential thrombocythemia (ET). 29845291

2018

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Myeloproliferative neoplasms (MPNs) driver mutations are usually found in JAK2, MPL, and CALR genes; however, 10%-15% of cases are triple negative (TN). 30295334

2019

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Myeloproliferative neoplasms (MPNs) driver mutations are usually found in JAK2, MPL, and CALR genes; however, 10%-15% of cases are triple negative (TN). 30295334

2019