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 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 2013
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker 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 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 BCR-FGFR1, CNTRL-FGFR1, CUX1-FGFR1, FGFR1OP-FGFR1, MYO18A-FGFR1 and ZMYM2-FGFR1 fusions in myeloproliferative neoplasms are non-receptor-type FGFR kinases, whereas FGFR1-TACC1, FGFR2-AFF3, FGFR2-BICC1, FGFR2-PPHLN1, FGFR3-BAIAP2L1 and FGFR3-TACC3 fusions in solid tumors are transmembrane-type FGFRs with C-terminal alterations. 27245147 2016
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Here we describe another case of myeloproliferative neoplasm with chromosome translocation t(8;19) involving FGFR1 gene associated with systemic mastocytosis. 24551307 2014
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 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 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 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 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 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 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 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 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 translocation with concurrent myeloproliferative neoplasm, systemic mastocytosis, and lymphoblastic lymphoma: a case report. 29107667 2018
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 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 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 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 2011
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 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 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 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 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