Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker BEFREE JAK2 plays a critical role in JAK/STAT signaling pathway and in patho-mechanism of myeloproliferative disorders and autoimmune diseases. 30617940

2019

Entrez Id: 613
Gene Symbol: BCR
BCR
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm the hallmark of which, the breakpoint cluster region-Abelson (BCR-ABL) oncogene, has been the target of tyrosine kinase inhibitors (TKIs), which have significantly improved the survival of patients with CML. 31102734

2019

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE The V617F mutation in the JH2 domain of JAK2 is an oncogenic driver in several myeloproliferative neoplasms (MPNs), including essential thrombocythemia, myelofibrosis, and polycythemia vera (PV). 31697804

2019

Entrez Id: 613
Gene Symbol: BCR
BCR
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker BEFREE Chronic neutrophilic leukemia (CNL) is a BCR-ABL1-negative myeloproliferative neoplasm with notably dismal survival. 30581159

2019

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Furthermore, the V617F mutation in JAK2 was identified in patients affected by myeloproliferative neoplasms. 29589523

2019

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker BEFREE The Temporal Sequence and the Differences in Somatic Mutation Acquisition Determines Clinical Behaviors of JAK2-Positive Myeloproliferative Neoplasms. 31704857

2019

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Activating mutations in JAK2 have been described in patients with various hematologic malignancies including acute myeloid leukemia (AML) and myeloproliferative neoplasms. 31299252

2019

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Sequential genotyping for phenotype-driver mutations in JAK2 (exon 14), CALR (exon 9), and MPL (exon 10) is recommended in patients with myeloproliferative neoplasms. 31135094

2019

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE The discovery of a mutation in the Janus Kinase 2 gene in 2005 spurred significant progress in the field of myeloproliferative neoplasms. 30987952

2019

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Sequential genotyping for phenotype-driver mutations in JAK2 (exon 14), CALR (exon 9), and MPL (exon 10) is recommended in patients with myeloproliferative neoplasms. 31135094

2019

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE The hallmark of <i>BCR-ABL1</i>-negative myeloproliferative neoplasms (MPNs) is the presence of a driver mutation in <i>JAK2, CALR</i>, or <i>MPL</i> gene. 31106152

2019

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: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE The Philadelphia chromosome-negative myeloproliferative neoplasms (MPN) share similar molecular characteristics in that they frequently harbor hotspot mutations in JAK2, CALR or MPL, leading to activated JAK/STAT signaling. 31071164

2019

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Studies have previously shown that mutant calreticulin (CALR), found in a subset of patients with myeloproliferative neoplasms (MPNs), interacts with and subsequently promotes the activation of the thrombopoietin receptor (MPL). 29946189

2019

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE We apply GoT to profile 38,290 CD34<sup>+</sup> cells from patients with CALR-mutated myeloproliferative neoplasms to study how somatic mutations corrupt the complex process of human haematopoiesis. 31270458

2019

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Recent data demonstrated that the TPO receptor (MPL) is essential for the development of CALR mutant-driven Myeloproliferative Neoplasms (MPNs). 31332222

2019

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE The Janus kinase 2 (<i>JAK2</i>) V617F mutation is common in patients with breakpoint cluster region-Abelson1 (<i>BCR-ABL1</i>)-negative myeloproliferative neoplasms, including polycythemia vera, essential thrombocythemia and primary myelofibrosis, but is rarely detected in <i>BCR-ABL1-</i>positive chronic myeloid leukemia (CML) patients. 31123683

2019

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker BEFREE The JAK2-STAT signaling pathway plays a critical role in myeloproliferative neoplasms (MPN). 30717771

2019

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Rapid, low cost and sensitive detection of Calreticulin mutations by a PCR based amplicon length differentiation assay for diagnosis of myeloproliferative neoplasms. 31248375

2019

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE We show that metabolic alterations in hematopoietic cells are fundamental to the pathogenesis of mutant JAK2-driven myeloproliferative neoplasms (MPNs). 31511238

2019

Entrez Id: 613
Gene Symbol: BCR
BCR
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker BEFREE The hallmark of <i>BCR-ABL1</i>-negative myeloproliferative neoplasms (MPNs) is the presence of a driver mutation in <i>JAK2, CALR</i>, or <i>MPL</i> gene. 31106152

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: 4352
Gene Symbol: MPL
MPL
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation BEFREE Myeloproliferative neoplasms (MPNs) are associated with somatic mutations of genes including JAK2, CALR, or MPL in hematopoietic stem cells. 31377025

2019