Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group 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
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE Taking its high specificity for FGFRs into account, infigratinib could be beneficial for EMS patients and should be further investigated for the treatment of myeloproliferative neoplasms with FGFR1 abnormalities. 26391436 2016
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Molecular identification of a TPR-FGFR1 fusion transcript in an adult with myeloproliferative neoplasm, T-lymphoblastic lymphoma, and a t(1;8)(q25;p11.2). 25037443 2015
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Fine-needle aspiration cytology of T-lymphoblastic lymphoma associated FGFR1 rearrangement myeloproliferative neoplasm. 23904402 2014
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group CTD_human The 8p11 myeloproliferative syndrome is a rare, aggressive myeloproliferative neoplasm characterized by constitutively active FGFR1 fusion proteins that arise from specific chromosomal translocations and which drive aberrant proliferation. 22875613 2014
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Systemic mastocytosis with associated myeloproliferative neoplasm with t(8;19)(p12;q13.1) and abnormality of FGFR1: report of a unique case. 24551307 2014
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Hematologic malignancies associated with FGFR1 abnormalities present in heterogeneous forms, including myeloproliferative neoplasm, acute myeloid leukemia (AML), T- or B-lineage lymphoblastic leukemia/lymphoma, and even mixed phenotype acute leukemia. 23609419 2013
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Localization of the FOP-FGFR1 fusion kinase to centriolar satellites may be relevant to myeloproliferative neoplasm disease progression. 23554904 2013
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE A ZMYM2-FGFR1 8p11 myeloproliferative neoplasm with a novel nonsense RUNX1 mutation and tumor lysis upon imatinib treatment. 23751892 2013
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group CTD_human Discovery of 3-(2,6-dichloro-3,5-dimethoxy-phenyl)-1-{6-[4-(4-ethyl-piperazin-1-yl)-phenylamino]-pyrimidin-4-yl}-1-methyl-urea (NVP-BGJ398), a potent and selective inhibitor of the fibroblast growth factor receptor family of receptor tyrosine kinase. 21936542 2012
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Here, we report a new translocation at the FGFR1 locus in a patient who carried t(1;8)(q25;p11.2) and presented with myeloproliferative neoplasm-like symptoms. 22619110 2012
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE The KG-1a cell line is developed from a human stem cell myeloproliferative neoplasm as the result of intragenic disruption and a chromosomal translocation of the FGFR1 gene and the FGFR1OP2 gene encoding a protein of unknown function called FOP2 (FGFR1 Oncogene Partner 2). 21745565 2011
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE The introduction of JAK2 mutation testing has changed dramatically the diagnostic algorithms for myeloproliferative neoplasms (MPNs) but there is still a place for conventional cytogenetic analysis in the initial work-up of MPN cases, particularly as this group of myeloid disorders has been expanded to include chronic eosinophilic leukaemia and myeloid neoplasms with abnormalities of the PDGFRA, PDGFRB, and FGFR1 genes. 21431636 2011
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Constitutive Notch pathway activation in murine ZMYM2-FGFR1-induced T-cell lymphomas associated with atypical myeloproliferative disease. 21527531 2011
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE Protein tyrosine kinase abnormalities, including translocations or mutations involving ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB, and FGFR1, have been used as the basis for classifying myeloproliferative neoplasms (MPN). 20626469 2010
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Three of the four FGFR1-rearranged cases were associated with myeloproliferative neoplasms but none, including the two with sole 8p11.2, displayed the typical phenotype for stem cell leukemia/lymphoma (SCLL) and only one had eosinophilia; the fourth case had AML-M4. 20143402 2010
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Rearrangements of the genes encoding the fibroblast growth factor receptor 1 (FGFR1) and platelet-derived growth factor receptors (PDGFR) alpha or beta receptor tyrosine kinases are found in a rare but important subset of patients with atypical myeloproliferative disorders that are usually but not always associated with eosinophilia. 18566537 2008
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Common features of myeloproliferative disorders with t(8;9)(p12;q33) and CEP110-FGFR1 fusion: report of a new case and review of the literature. 18096225 2008
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE The 8p11 myeloproliferative syndrome (EMS) is an aggressive, atypical stem cell myeloproliferative disorder associated with chromosome translocations that disrupt and constitutively activate FGFR1 by fusion to diverse partner genes. 17698633 2008
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE The ZNF198/FGFR1 fusion gene in atypical myeloproliferative disease produces a constitutively active cytoplasmic tyrosine kinase, unlike ZNF198 which is normally a nuclear protein. 17027752 2007
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Combined translocation with ZNF198-FGFR1 gene fusion and deletion of potential tumor suppressors in a myeloproliferative disorder. 17321332 2007
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE We describe a case of coexisting BCR-ABL negative myeloproliferative disorder and precursor T-cell lymphoblastic lymphoma associated with t(8;13) involving FGFR1 at 8p11 in a 14-year-old boy who presented with generalized lymphadenopathy and an abdominal mass. 16777224 2007
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE Induction of the plasminogen activator inhibitor-2 in cells expressing the ZNF198/FGFR1 fusion kinase that is involved in atypical myeloproliferative disease. 16410451 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Dual lympho-myeloproliferative disorder in a patient with t(8;22) with BCR-FGFR1 gene fusion. 15870860 2005
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE ZNF198 is fused with FGFR1 in an atypical myeloproliferative disease that results in constitutive activation of the kinase domain and mislocalization to the cytoplasm. 15975576 2005