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: C1266127
Disease: Histiocytoma, Angiomatoid Fibrous
Histiocytoma, Angiomatoid Fibrous 		0.100 GeneticVariation disease BEFREE "Areas with typical AFH morphology were identified and the diagnosis confirmed with identification of an EWSR1..." rearrangement detected by fluorescence in situ hybridization. 18422688 2008
CUI: C0281508
Disease: Desmoplastic Small Round Cell Tumor
Desmoplastic Small Round Cell Tumor 		0.400 GeneticVariation disease BEFREE <b>Purpose:</b> Desmoplastic small round cell tumor (DSRCT), which harbors EWSR1-WT1 t(11;22)(p13:q12) chromosomal translocation, is an aggressive malignancy that typically presents as intra-abdominal sarcomatosis in young males. 29871905 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE <b>Purpose:</b> Desmoplastic small round cell tumor (DSRCT), which harbors EWSR1-WT1 t(11;22)(p13:q12) chromosomal translocation, is an aggressive malignancy that typically presents as intra-abdominal sarcomatosis in young males. 29871905 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 GeneticVariation group BEFREE <b>Purpose:</b> Desmoplastic small round cell tumor (DSRCT), which harbors EWSR1-WT1 t(11;22)(p13:q12) chromosomal translocation, is an aggressive malignancy that typically presents as intra-abdominal sarcomatosis in young males. 29871905 2018
CUI: C0334451
Disease: Sarcomatosis
Sarcomatosis 		0.020 GeneticVariation disease BEFREE <b>Purpose:</b> Desmoplastic small round cell tumor (DSRCT), which harbors EWSR1-WT1 t(11;22)(p13:q12) chromosomal translocation, is an aggressive malignancy that typically presents as intra-abdominal sarcomatosis in young males. 29871905 2018