EWSR1, EWS RNA binding protein 1, 2130

N. diseases: 251; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.100 Biomarker phenotype HPO
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms 		0.010 Biomarker group BEFREE We report 2 unusual cases of EWS/PNET diagnosed in abdominal tumors in adults. 15354743 2004
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C4025698
Disease: Abnormality of the peritoneum
Abnormality of the peritoneum 		0.100 Biomarker disease HPO
CUI: C2718092
Disease: Acrospiroma
Acrospiroma 		0.010 Biomarker disease BEFREE POU5F1, encoding a key regulator of stem cell pluripotency, is fused to EWSR1 in hidradenoma of the skin and mucoepidermoid carcinoma of the salivary glands. 18338330 2008
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 GeneticVariation disease BEFREE We show that, as result of a t(12;17)(p13;q11) or its variant t(12;22)(p13;q12), the transcription factor gene CIZ/NMP4 is recurrently involved in acute leukemia through fusion with either EWSR1 or TAF15. 12359745 2002
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 Biomarker disease BEFREE Both genes are known to be targeted also by other neoplasia-specific translocations, PBX1 in acute lymphoblastic leukemia and EWSR1 in several solid tumors, most of which are malignant. 18383210 2008
CUI: C1367554
Disease: Adamantinoma
Adamantinoma 		0.030 GeneticVariation disease BEFREE Adamantinoma-like Ewing's sarcoma with EWS-FLI1 fusion gene: a case report. 17016721 2006
CUI: C1367554
Disease: Adamantinoma
Adamantinoma 		0.030 GeneticVariation disease BEFREE Adamantinoma-like Ewing sarcoma (ALES) is a rare tumor that demonstrates the EWSR1-FLI1 translocation characteristic of Ewing sarcoma despite overt epithelial differentiation including diffuse expression of cytokeratins and p40. 30285997 2019
CUI: C1367554
Disease: Adamantinoma
Adamantinoma 		0.030 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
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		0.100 GeneticVariation disease BEFREE Reevaluation of MAML2 fusion-negative mucoepidermoid carcinoma: a subgroup being actually hyalinizing clear cell carcinoma of the salivary gland with EWSR1 translocation. 27769871 2017
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		0.100 Biomarker disease BEFREE EWSR1-ATF1 fusion is a novel and consistent finding in hyalinizing clear-cell carcinoma of salivary gland. 21484932 2011
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		0.100 GeneticVariation disease BEFREE Nasopharyngeal hyalinizing clear cell carcinoma with EWSR1 rearrangements diagnosed by fluorescence in situ hybridization. 25805066 2015
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		0.100 GeneticVariation disease BEFREE EWSR1 genetic rearrangements in salivary gland tumors: a specific and very common feature of hyalinizing clear cell carcinoma. 23426124 2013
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		0.100 GeneticVariation disease BEFREE The EWSR1 rearrangement was detected in 20 of 51 (39%) cases of CCMC, in 5 of 21 (24%) cases of CCMCexPA, in 1 of 11 (9%) cases of EMC, and in 4 of 5 (80%) cases of hyalinizing clear cell carcinoma. 25581728 2015
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		0.100 Biomarker disease BEFREE Recurrent gene fusions involving EWSR1 with members of the cAMP response element binding protein (CREB) family (ATF1 and CREB1) have been reported in a diverse group of tumors including angiomatoid fibrous histiocytoma (AFH), soft tissue and gastrointestinal clear cell sarcoma, primary pulmonary myxoid sarcoma, and hyalinizing clear cell carcinoma of salivary gland. 28009602 2017
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		0.100 GeneticVariation disease BEFREE Primary paranasal sinus clear cell carcinoma with EWSR1-ATF1 fusion: report of 2 molecularly confirmed cases exhibiting unique histopathology. 27916624 2017
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		0.100 GeneticVariation disease BEFREE More recently, new categories have been defined, like secretory carcinoma with the t(12;15) (p13;q25) ETV6-NTRK3 translocation and clear-cell carcinoma with EWSR1-ATF1 fusion. 28930752 2018
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		0.100 GeneticVariation disease BEFREE Hyalinizing clear cell carcinoma with EWSR1-ATF1 fusion gene: report of three cases with molecular analyses. 25359601 2015
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		0.100 Biomarker disease BEFREE EWSR1-CREB1 and EWSR1-ATF1 are gene fusions of which one or both have now been consistently described in 5 histopathologically and behaviorally diverse neoplasms: angiomatoid fibrous histiocytoma, conventional clear cell sarcoma (of tendons and aponeuroses), clear cell sarcoma-like tumor of the gastrointestinal tract, hyalinizing clear cell carcinoma of the salivary gland, and primary pulmonary myxoid sarcoma. 22510762 2012
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.010 GeneticVariation disease BEFREE Moreover, MYB-NFIB and EWSR1-ATF1 gene fusions were shown to be specifically found in cases of adenoid cystic carcinomas and hyalinizing clear cell carcinomas, respectively, in the context of salivary gland tumors, becoming reliable diagnostic tools for these entities and potential therapeutic targets for future therapeutic protocols. 25990369 2016
CUI: C0019522
Disease: Adenoma, Sweat Gland
Adenoma, Sweat Gland 		0.010 Biomarker disease BEFREE POU5F1, encoding a key regulator of stem cell pluripotency, is fused to EWSR1 in hidradenoma of the skin and mucoepidermoid carcinoma of the salivary glands. 18338330 2008
CUI: C0278592
Disease: Adult Angiosarcoma
Adult Angiosarcoma 		0.010 AlteredExpression disease BEFREE Genetic characterization of several soft tissue tumour types that occur in the skin has resulted in the identification of diagnostically useful markers: ALK gene rearrangement with corresponding ALK protein expression by immunohistochemistry in epithelioid fibrous histiocytoma; the WWTR1-CAMTA1 fusion gene with CAMTA1 protein expression in epithelioid haemangioendothelioma; MYC amplification and overexpression in radiation-associated angiosarcoma; and EWSR1 gene rearrangement in cutaneous myoepithelial tumours. 26763770 2016
CUI: C1332198
Disease: Adult Clear Cell Sarcoma of Soft Parts
Adult Clear Cell Sarcoma of Soft Parts 		0.030 Biomarker disease BEFREE RT-PCR was performed in 8 available cases, including 6 CCSSTs and 2 CCSLGTs.All CCSSTs showed EWSR1-ATF1 fusions. 30219084 2018
CUI: C1332198
Disease: Adult Clear Cell Sarcoma of Soft Parts
Adult Clear Cell Sarcoma of Soft Parts 		0.030 GeneticVariation disease BEFREE Bilateral salpingo-oophorectomy was performed and the light microscopic and immunohistochemical findings coupled with the detection of an EWSR1 rearrangement by fluorescence in situ hybridization were compatible with a diagnosis of CCSST metastases to the ovaries. 19620941 2009