Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.530 Biomarker disease BEFREE Previous studies have described the value of SMARCA4 IHC to differentiate SCCOHT from ovarian neoplasms (ON), with similar histologic appearances. 31844183 2020
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.530 Biomarker disease BEFREE We recently uncovered that SMARCA4 loss in an ovarian cancer subtype causes cyclin D1 deficiency leading to susceptibility to CDK4/6 inhibition. 30718506 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.530 AlteredExpression disease BEFREE Some lung and ovarian tumors are connected to the loss of expression of SMARCA4 gene. 31676783 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.530 Biomarker disease CTD_human SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas. 26343384 2015
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.530 Biomarker disease CTD_human Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. 24658002 2014
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.530 Biomarker disease CTD_human Recurrent SMARCA4 mutations in small cell carcinoma of the ovary. 24658004 2014
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.530 Biomarker disease CTD_human We identified germline and somatic inactivating mutations in the SWI/SNF chromatin-remodeling gene SMARCA4 in 75% (9/12) of SCCOHT cases in addition to SMARCA4 protein loss in 82% (14/17) of SCCOHT tumors but in only 0.4% (2/485) of other primary ovarian tumors. 24658001 2014
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.530 CausalMutation disease CGI