Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0426421
Disease: Wide nose
Wide nose
0.100 Biomarker phenotype HPO
Well Differentiated Oligodendroglioma
0.010 GeneticVariation disease BEFREE However, analyses according to histological subtypes revealed a statistically significant increased risk of oligodendroglioma in association with SMARCA2 rs2296212 (OR = 4.05, 95% CI = 1.11-14.80, P = 0.030, q = 0.08) and rs4741651 (OR = 4.68, 95% CI = 1.43-15.30, P = 0.011, q = 0.08) and SMARCA4 rs11672232 (OR = 1.90, 95% CI = 1.01-3.58, P = 0.048, q = 0.08) and rs12232780 (OR = 2.14, 95% CI = 1.06-4.33, P = 0.035, q = 0.08). 23276717 2013
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
0.100 Biomarker phenotype HPO
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
0.010 AlteredExpression group BEFREE The levels of truncated SMARCA2 or SMARCA4 strongly correlate with the degree of cell damage and death observed after virus infection. 29848589 2018
CUI: C0282607
Disease: Vascular Neoplasms
Vascular Neoplasms
0.010 Biomarker group BEFREE These include gene fusions in vascular neoplasms (FOSB, CAMTA1 and TFE3), round cell sarcomas (BCOR, DUX4 and WT1), and fibroblastic/myofibroblastic tumors (STAT6, ALK and Pan-TRK); amplifications in well-differentiated and dedifferentiated liposarcomas (MDM2 and CDK4); and deletions in several aggressive neoplasms (SMARCB1 and SMARCA4). 30382607 2019
CUI: C0947751
Disease: Vascular inflammations
Vascular inflammations
0.010 GeneticVariation phenotype BEFREE Endothelial-specific deletion of Brg1/Brm ameliorated vascular inflammation and HPH in mice. 24042015 2013
CUI: C0342649
Disease: Vascular calcification
Vascular calcification
0.010 Biomarker phenotype BEFREE Consequently, our study demonstrates that Smarca4 is involved in hyperphosphorus-induced VC. 30973285 2019
CUI: C0338113
Disease: Uterine Corpus Sarcoma
Uterine Corpus Sarcoma
0.010 Biomarker disease BEFREE SMARCA4-deficient Uterine Sarcoma and Undifferentiated Endometrial Carcinoma are Distinct Clinicopathologic Entities. 31567195 2020
CUI: C0041956
Disease: Ureteral obstruction
Ureteral obstruction
0.010 Biomarker phenotype BEFREE Endothelial-specific deletion of Brahma-related gene 1 (BRG1) assuages unilateral ureteral obstruction induced renal injury in mice. 31349970 2019
CUI: C0346167
Disease: Undifferentiated carcinoma of ovary
Undifferentiated carcinoma of ovary
0.010 Biomarker disease BEFREE SMARCA4-deficient undifferentiated carcinoma of the ovary (small cell carcinoma, hypercalcemic type): clinicopathologic and immunohistochemical study of 3 cases. 26123103 2015
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma
0.060 Biomarker disease BEFREE SMARCA4-deficient undifferentiated uterine sarcoma (malignant rhabdoid tumor of the uterus): a clinicopathologic entity distinct from undifferentiated carcinoma. 29700418 2018
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma
0.060 GeneticVariation disease BEFREE Alterations in the IDH2-wild-type sinonasal undifferentiated carcinomas included SMARCA4 loss-of-function with confirmed loss of immunohistochemical expression, NOTCH1 gain-of-function, and TET2 loss-of-function. 28084339 2017
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma
0.060 Biomarker disease BEFREE Thoracic SMARCA4-deficient sarcomatoid tumors represent primarily smoking-related undifferentiated carcinomas rather than primary thoracic sarcomas. 31751681 2020
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma
0.060 AlteredExpression disease BEFREE We analyzed 24 grade 3 uterine endometrioid adenocarcinomas and 2 undifferentiated carcinomas for immunohistochemical expression of SMARCB1 and SMARCA4. 25920939 2015
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma
0.060 GeneticVariation disease BEFREE SMARCA4 (BRG1), which encodes another member of the SWI/SNF pathway, and which is mutated in almost all small-cell carcinomas of the ovary, hypercalcaemic type, has been investigated in endometrial carcinomas, and mutations with resultant loss of immunohistochemical staining have been demonstrated in some endometrial undifferentiated carcinomas/dedifferentiated carcinomas. 27656868 2017
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma
0.060 Biomarker disease BEFREE Immunohistochemistry for claudin-4 was performed on 130 neoplasms, including 90 soft tissue tumors with epithelioid morphology and/or SMARCB1 deficiency (20 epithelioid sarcomas (10 conventional, 10 proximal-type); 10 epithelioid angiosarcomas; 10 epithelioid hemangioendotheliomas; 15 epithelioid malignant peripheral nerve sheath tumors; 10 malignant rhabdoid tumors; 15 myoepithelial carcinomas; 10 biphasic synovial sarcomas), 10 ovarian clear cell carcinomas, 10 ovarian small cell carcinomas of hypercalcemic type, and 20 SWI/SNF complex-deficient undifferentiated carcinomas (14 SMARCB1 deficient and 6 SMARCA4 deficient, including rhabdoid carcinomas of various sites and sinonasal carcinomas). 28084340 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.040 AlteredExpression phenotype BEFREE These data strongly support the model that BRG1 may function as a tumor suppressor and strengthen the hypothesis that the regulation of gene expression through chromatin remodeling is critical for cancer progression. 11085541 2000
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.040 Biomarker phenotype BEFREE To determine how BRG1 loss fuels tumor progression in NSCLC, molecular profiling was performed after restoration of BRG1 expression or treatment with a histone deacetylase inhibitor or a DNA methyltransferase (DNMT) inhibitor in a BRG1-deficient NSCLC cells. 24445599 2014
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.040 AlteredExpression phenotype BEFREE However, BRG1 expression did not correlate with Gleason score/International Society of Urological Pathology (ISUP) Grade Group, indicating it is an independent predictor of tumor progression/patient outcome. 30667054 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.040 AlteredExpression phenotype BEFREE Here, we found that BRG1 is upregulated in HCC and that its level significantly correlates with cancer progression in HCC patients. 29352111 2018
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation
0.010 Biomarker phenotype BEFREE In mature duct cells, Brg1 inhibits the dedifferentiation that precedes neoplastic transformation, thus attenuating tumor initiation. 25792600 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 AlteredExpression phenotype BEFREE Our results identify ZEB1/BRG1 as a new transcriptional mechanism regulating E-cadherin expression and epithelial-to-mesenchymal transdifferentiation that may be involved during the initial stages of tumor invasion. 20418909 2010
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 AlteredExpression phenotype BEFREE Statistical analysis revealed that BRM expression was related to tumor size, T factor, M factor, lymphatic invasion and stage BRG1 expression to histology and stage BAF180 expression to tumor size and BAF47 expression to lymphatic invasion, respectively. 23229642 2013
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 Biomarker phenotype BEFREE We studied the role of BRG1 in glioma cell migration and invasion by cell migration assay and matrigel invasion assay. 22362300 2012
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 AlteredExpression phenotype BEFREE Collectively, these findings show that M2 macrophages induce colorectal cancer cells' migration and invasion and provide significant plasticity of BRG1 expression in response to tumor microenvironments during malignant progression. 30401711 2019