Disease: Endometrial stromal sarcoma, high grade ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2239246
Disease: Endometrial stromal sarcoma, high grade
Endometrial stromal sarcoma, high grade 		0.310 Biomarker disease GENOMICS_ENGLAND SMARCA4 inactivation defines a subset of undifferentiated uterine sarcomas with rhabdoid and small cell features and germline mutation association. 31190001 2019
CUI: C2239246
Disease: Endometrial stromal sarcoma, high grade
Endometrial stromal sarcoma, high grade 		0.310 Biomarker disease BEFREE We propose this entity be called "SMARCA4-deficient undifferentiated uterine sarcoma (malignant rhabdoid tumor of the uterus)", a term which describes both the tumor's underlying molecular abnormality and its morphology. 29700418 2018