Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Primitive neuroectodermal tumor (PNET) is a prototypic malignant small round cell tumor of childhood that is characterized in most cases by t(11;22) resulting in an EWS-FLI1 gene fusion. 11178636 2001
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 AlteredExpression disease BEFREE Ewing sarcoma-primitive neuroectodermal tumor (EWS/PNET) belongs to the group of pediatric small round blue cell tumors; although EWS/PNET is classically a tumor of the soft tissue or bone in children and young adults, individual cases have been described in patients of all ages. 11679946 2001
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Ewing sarcoma/primitive neuroectodermal tumor (EWS/PNET) is a diagnostically challenging malignant round cell tumor with signature translocations involving the EWS gene. 16258512 2006
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Ewing sarcoma/primitive neuroectodermal tumor (EWS/PNET) of the kidney is a rare and aggressive tumor. 17126256 2006
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Ewing sarcoma/peripheral neuroectodermal tumor (EWS/PNET), since its characterization immunophenotypically and cytogenetically, has emerged as one of most common sarcomas of childhood. 17487851 2007
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE Ewing's sarcoma/primitive neuroectodermal tumor (EWS/PNET) has a characteristic chimeric oncogene EWS-FLI1, which results from chromosomal translocation t (11; 22), that is believed to initiate tumorigenesis of EWS/PNET. 18622580 2008
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE EWS Fli-1, a fusion gene resulting from a t(11;22) translocation is found in 90% of both Ewing's sarcoma and primitive neuroectodermal tumor (PNET). 11118299 2000
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE EWS-FLI1 fusion protein up-regulates critical genes in neural crest development and is responsible for the observed phenotype of Ewing's family of tumors. 15930281 2005
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE EWS-FLI1 fusion transcripts were detected by reverse transcriptase polymerase chain reaction and direct sequencing, confirming the diagnosis of PNET/ES. 21063743 2011
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE EWS-erg and EWS-Fli-1, which are involved in greater than 95% of Ewing family of tumors, were shown to function as transcriptional activators. 9178886 1997
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE EWS/ets-oncogene fusion transcripts can be detected in at least 98% of Ewing tumors [(ET) Ewing sarcoma and peripheral primitive neuroectodermal tumor] by reverse transcriptase-polymerase chain reaction (RT-PCR), thus confirming the histopathologic diagnosis. 9495359 1998
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE A novel EWS-ERG rearrangement generating two hybrid mRNAs in a peripheral primitive neuroectodermal tumour (pPNET) with a t(15;22) translocation. 10209495 1998
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE AES has mixed features of Ewing sarcoma (ES)/primitive neuroectodermal tumor (PNET) and adamantinoma with a complex immunoprofile and EWSR1 gene rearrangements. 29034595 2018
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE All 30 clinical specimens had been confirmed to contain sufficient ES/PNET DNA by the demonstration of a rearrangement of the t(11;22)-associated EWS gene using an EWS cDNA probe on the same blots. 7738717 1995
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 AlteredExpression disease BEFREE All peripheral PNET tested expressed MIC2 and were positive for EWS-FLI1 (11/11). 11304041 2001
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE As a result of the t(11;22)(q24;q12) chromosomal translocation characterizing the Ewing family of tumors (ET), the amino terminal portion of EWS, an RNA binding protein of unknown function, is fused to the DNA-binding domain of the ets transcription factor Fli1. 9704926 1998
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE Chimeric EWS/FLI1 transcripts and fusion proteins in these tumors are identical to those described for pPNETs. 7882340 1995
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Cytopathological findings of primary pulmonary Ewing family of tumors with EWSR1 translocation: A case report. 27766786 2016
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Detection of EWSR1 translocations - particularly t(11;22)(q24;q12) - is of great value in the differential diagnosis of the Ewing family of tumors. 20513536 2010
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Detection of SYT and EWS gene rearrangements by dual-color break-apart CISH in liquid-based cytology samples of synovial sarcoma and Ewing sarcoma/primitive neuroectodermal tumor. 20660338 2010
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Differentiating desmoplastic small round cell tumor (DSRCT) from another similar small round cell tumor of childhood, the Ewing sarcoma/primitive neuroectodermal tumor (EWS/PNET), can be difficult because morphologic and immunohistochemical features overlap. 10989634 2000
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Ewing sarcoma (ES) and peripheral primitive neuroectodermal tumors (PNETs) are associated with a chromosomal translocation resulting in a fusion of the amino-terminus of EWS with the DNA-binding domain of an ETS transcription factor (most commonly FLI1 or ERG). 12557222 2003
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Ewing sarcoma and other peripheral primitive neuroectodermal tumors (pPNETs) display limited neural differentiation and are thought to have a neural crest origin Greater than 95% of these tumors share common t(11;22)(q24;q12) ort(21;22)(q22;q12) chromosomal translocations leading to ES/FLI1 or EWS/ERG gene fusions, respectively. 9496833 1998
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Ewing tumours (ET), including Ewing's sarcoma and peripheral primitive neuroectodermal tumour, are well characterised at the molecular level by a unique chromosomal rearrangement which fuses the EWS gene to one of two closely related ETS proto-oncogenes, FLI-1 or ERG. 7524604 1994
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Ewing's sarcoma (ES) and primitive neuroectodermal tumor (PNET) are members of a tumor family consistently associated with chromosomal translocation and functional fusion of the EWS gene to any of several structurally related transcription factor genes. 10623711 2000