Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13). 9576949 1998
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE By analogy with these, we propose that the RAMP-FGFR1 fusion product will contribute to progression of this myeloproliferative disorder by constitutive activation of tyrosine kinase function. 9499416 1998
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE Characterization of FIM-FGFR1, the fusion product of the myeloproliferative disorder-associated t(8;13) translocation. 10480903 1999
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE The 8p12 myeloproliferative disorder. t(8;19)(p12;q13.3): a novel translocation involving the FGFR1 gene. 11122115 2000
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33). 10688839 2000
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE Further FISH indicated a breakpoint within fibroblast growth factor receptor 1 (FGFR1), the receptor tyrosine kinase that is known to be disrupted in a distinctive myeloproliferative disorder, most commonly by fusion to ZNF198. 11739186 2001
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Fusion of the BCR and the fibroblast growth factor receptor-1 (FGFR1) genes as a result of t(8;22)(p11;q11) in a myeloproliferative disorder: the first fusion gene involving BCR but not ABL. 11746971 2001
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE Finally, translocations associated with the rare 8p11 myeloproliferative syndrome and other atypical myeloproliferative disorders have permitted the identification of a number of novel fusion proteins involving fibroblast growth factor receptor-1. 11640868 2001
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group LHGDN Fusion of the BCR and the fibroblast growth factor receptor-1 (FGFR1) genes as a result of t(8;22)(p11;q11) in a myeloproliferative disorder: the first fusion gene involving BCR but not ABL. 11746971 2001
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Endogenous retroviral sequence is fused to FGFR1 kinase in the 8p12 stem-cell myeloproliferative disorder with t(8;19)(p12;q13.3). 12393597 2003
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE PKC412 inhibits the zinc finger 198-fibroblast growth factor receptor 1 fusion tyrosine kinase and is active in treatment of stem cell myeloproliferative disorder. 15448205 2004
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE The t(8;13) translocation, found in a rare and aggressive type of stem cell myeloproliferative disorder, leads to the generation of a fusion protein between the N-terminal gene product of fused in myeloproliferative disorders (FIM)/ZNF198 and the fibroblast growth factor receptor 1 (FGFR1) kinase domain. 14672707 2004
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE FOP-FGFR1 tyrosine kinase, the product of a t(6;8) translocation, induces a fatal myeloproliferative disease in mice. 12969958 2004
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
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 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 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 2006
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 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 2007
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 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 Biomarker group BEFREE Important changes include (1) the change of nomenclature of myeloproliferative disorder to myeloproliferative neoplasm emphasizing the clonal nature of these disorders; (2) the classification of mast cell disease as an MPN; (3) the reorganization of the eosinophilic disorders into a molecularly defined category of PDGFRA, PDGFRB and FGFR1-associated myeloid and lymphoid neoplasms with eosinophilia and chronic eosinophilic leukemia, not otherwise specified; and (4) refinement of the diagnostic criteria for PV, ET and PMF incorporating recently described molecular markers, JAK2V617F, JAK2 exon 12 mutations and MPL mutations. 20191332 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 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