ETV6, ETS variant transcription factor 6, 2120

N. diseases: 241; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma
0.330 Biomarker disease BEFREE To assess the clinical value and specificity of the BCOR internal tandem duplication, a group of 11 ETV6-rearranged congenital infantile fibrosarcomas were evaluated and no BCOR internal tandem duplication was identified in any case. 28256570 2017
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma
0.330 GeneticVariation disease BEFREE The fusion transcript identified encompasses exon 4 of ETV6 and exon 14 of NTRK3 and therefore differs from the canonical ETV6-NTRK3 chimera of infantile fibrosarcomas. 26606880 2016
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma
0.330 GeneticVariation disease BEFREE ETV6 rearrangements in patients with infantile fibrosarcomas and congenital mesoblastic nephromas by fluorescence in situ hybridization. 11743047 2001
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma
0.330 FusionGene disease ORPHANET