Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1335563
Disease: Proximal-Type Epithelioid Sarcoma
Proximal-Type Epithelioid Sarcoma
0.030 GeneticVariation disease BEFREE Tumors were classified as classical-type epithelioid sarcoma (N=1), proximal-type epithelioid sarcoma (N=6), myoepithelial carcinoma (N=4), and "SMARCB1-deficient vulvar sarcoma, not otherwise specified" (N=3) on the basis of combined histopathologic and IHC findings. 25651469 2015
CUI: C1335563
Disease: Proximal-Type Epithelioid Sarcoma
Proximal-Type Epithelioid Sarcoma
0.030 Biomarker disease BEFREE This rare variant should be distinguished from proximal-type epithelioid sarcoma and other SMARCB1-deficient mimics. 24503755 2014
CUI: C1335563
Disease: Proximal-Type Epithelioid Sarcoma
Proximal-Type Epithelioid Sarcoma
0.030 GeneticVariation disease BEFREE However, the frequency of SMARCB1/INI1 gene alteration at the DNA level in proximal-type epithelioid sarcoma was significantly lower than that in malignant rhabdoid tumor. 18973917 2009