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: C0553580
Disease: Ewings sarcoma
Ewings sarcoma
0.700 FusionGene disease ORPHANET
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma
0.700 Biomarker disease HPO
CUI: C0281508
Disease: Desmoplastic Small Round Cell Tumor
Desmoplastic Small Round Cell Tumor
0.400 FusionGene disease ORPHANET
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 Biomarker group HPO
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
0.120 Biomarker group HPO
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.110 Biomarker group HPO
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
0.100 Biomarker phenotype HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.100 Biomarker phenotype HPO
CUI: C0002871
Disease: Anemia
Anemia
0.100 Biomarker disease HPO
CUI: C0003962
Disease: Ascites
Ascites
0.100 Biomarker phenotype HPO
CUI: C0006625
Disease: Cachexia
Cachexia
0.100 Biomarker phenotype HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
0.100 Biomarker phenotype HPO
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting
0.100 Biomarker phenotype HPO
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.100 Biomarker disease HPO
CUI: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms
0.100 Biomarker group HPO
CUI: C0520743
Disease: Mediastinal lymphadenopathy
Mediastinal lymphadenopathy
0.100 Biomarker disease HPO
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
0.100 Biomarker phenotype HPO
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.100 Biomarker disease HPO
CUI: C1258215
Disease: Ileus
Ileus
0.100 Biomarker disease HPO
CUI: C4025698
Disease: Abnormality of the peritoneum
Abnormality of the peritoneum
0.100 Biomarker disease HPO
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 GeneticVariation group BEFREE The observation that the different translocation partners of the EWS gene are specifically associated with several distinct types of primitive sarcomas suggests a model in which the translocation partner supplying the DNA-binding domain confers the target specificity of the transcriptional activation mediated by these chimeric proteins, whereas the partner supplying the N-terminal domain and promoter region determines their transactivation potential and expression level. 7493135 1995
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
0.100 GeneticVariation group BEFREE The observation that the different translocation partners of the EWS gene are specifically associated with several distinct types of primitive sarcomas suggests a model in which the translocation partner supplying the DNA-binding domain confers the target specificity of the transcriptional activation mediated by these chimeric proteins, whereas the partner supplying the N-terminal domain and promoter region determines their transactivation potential and expression level. 7493135 1995
CUI: C0281508
Disease: Desmoplastic Small Round Cell Tumor
Desmoplastic Small Round Cell Tumor
0.400 GeneticVariation disease BEFREE One desmoplastic small round cell tumor was found to have a variant EWS-WT1 chimeric product that included exon 8 of EWS EWS-FLI-1 chimeric RNA was present in all Ewing's sarcoma/primitive neuroectodermal tumor and not identified in any other tumor types, including desmoplastic small round cell tumor. 7495283 1995
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 AlteredExpression disease BEFREE One desmoplastic small round cell tumor was found to have a variant EWS-WT1 chimeric product that included exon 8 of EWS EWS-FLI-1 chimeric RNA was present in all Ewing's sarcoma/primitive neuroectodermal tumor and not identified in any other tumor types, including desmoplastic small round cell tumor. 7495283 1995
Adult Desmoplastic Small Round Cell Tumor
0.100 GeneticVariation disease BEFREE One desmoplastic small round cell tumor was found to have a variant EWS-WT1 chimeric product that included exon 8 of EWS EWS-FLI-1 chimeric RNA was present in all Ewing's sarcoma/primitive neuroectodermal tumor and not identified in any other tumor types, including desmoplastic small round cell tumor. 7495283 1995