Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.010 GeneticVariation phenotype BEFREE Patients with SMARCA4 mutations had less coarse craniofacial appearances and behavioral abnormalities. 25168959 2014
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
0.100 Biomarker phenotype HPO
Abnormality of cardiovascular system morphology
0.100 Biomarker disease HPO
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle
0.100 Biomarker disease HPO
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition
0.100 Biomarker phenotype HPO
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone
0.100 Biomarker disease HPO
Abnormality of the intervertebral disk
0.100 Biomarker disease HPO
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
0.010 GeneticVariation disease BEFREE The correlation of the BRG1 rs1122608 single nucleotide polymorphism (SNP) with acute myocardial infarction (AMI) has been reported in American and European populations. 29615549 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.010 Biomarker disease BEFREE NPM and BRG1 Mediate Transcriptional Resistance to Retinoic Acid in Acute Promyelocytic Leukemia. 26997274 2016
CUI: C0035440
Disease: Acute rheumatic heart disease
Acute rheumatic heart disease
0.010 Biomarker disease BEFREE Bmi1 and BRG1 drive myocardial repair by regulating cardiac stem cell function in acute rheumatic heart disease. 29042984 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.060 Biomarker group BEFREE SMARCA4-deficient pulmonary adenocarcinoma is emerging as a distinctive, albeit phenotypically heterogeneous molecular subgroup of TTF1-negative NSCLC. 28555282 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.060 GeneticVariation group BEFREE We suggest that a mutation in SMARCA4 could be responsible for the transformation of the adenocarcinoma component into the neuroendocrine phenotype. 25275049 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.060 AlteredExpression group BEFREE Loss of expression of BRG1 and BRM was frequent in solid predominant adenocarcinomas and tumors with low thyroid transcription factor-1 (TTF-1, master regulator of lung) and low cytokeratin7 and E-cadherin (two markers for bronchial epithelial differentiation). 23163725 2013
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.060 Biomarker group BEFREE We herein investigated the expression of the SWI/SNF complex catalytic subunits SMARCA4 (BRG1) and SMARCA2 (BRM) in 316 consecutive non-small cell lung cancer (NSCLC) specimens on tissue microarrays (171 adenocarcinomas [ADCAs], 130 squamous cell carcinomas [SCCs], 9 adenosquamous carcinomas, and 6 large cell carcinomas) excluding undifferentiated/giant cell or rhabdoid carcinomas. 28038711 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.060 Biomarker group BEFREE Our systematic analysis of proteins and glycoproteins demonstrates changes of protein and glycoprotein relative abundance in SqCC (TP53, U2AF1, and RXR) and in ADC (SMARCA4, NOTCH1, PTEN, and MST1). 28814946 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.060 Biomarker group BEFREE BRG1 and/or BRM protein is absent or disrupted in approximately 17% of all human adenocarcinomas. 15887247 2005
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.040 Biomarker disease BEFREE A 43-year-old man underwent left upper lobe lung resection and was diagnosed with SMARCA4-deficient lung adenocarcinoma. 30972962 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.040 GeneticVariation disease BEFREE Genetic alterations of the mSWI/SNF chromatin remodeling complexes are the most frequent among chromatin regulators in cancers, with BRG1/SMARCA4 mutations occurring in ∼10-15% of lung adenocarcinomas. 24520176 2014
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.040 Biomarker disease BEFREE Our study highlights (1) the morphological diversity of SMARCA4-deficient lung adenocarcinoma, (2) the consistent absence of expression of TTF1 in the presence of expression of HepPar-1, (3) absence of EGFR driver mutations, and (4) frequent inactivating SMARCA4 mutations as underlying mechanism of the observed SMARCA4 protein loss. 28555282 2017
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.040 Biomarker disease BEFREE We conclude that loss of either or both BRG1 and BRM is involved in the progression of lung adenocarcinoma into solid predominant tumors with features of epithelial mesenchymal transition and loss of the bronchial epithelial phenotype. 23163725 2013
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
0.010 AlteredExpression disease BEFREE We provide first evidence that Brg1 expression is lost in noninvasive cystic precursor lesions of pancreatic adenocarcinoma. 21940037 2012
CUI: C0278803
Disease: Adenocarcinoma of small intestine
Adenocarcinoma of small intestine
0.010 Biomarker disease BEFREE Exome data analysis revealed significantly mutated genes previously linked to SBA (TP53, KRAS, APC, SMAD4, and BRAF), recently reported potential driver genes (SOX9, ATM, and ARID2), as well as novel candidate driver genes, such as ACVR2A, ACVR1B, BRCA2, and SMARCA4. 29522538 2018
CUI: C1569637
Disease: Adenocarcinoma, Endometrioid
Adenocarcinoma, Endometrioid
0.010 Biomarker disease BEFREE The SMARCA4-intact component was a moderate-to-poorly differentiated endometrioid adenocarcinoma. 25920939 2015
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma
0.030 AlteredExpression disease BEFREE BRG1 expression levels could correlate negatively with miR-155 expression levels, at least in Burkitt's lymphoma and diffuse large B cell lymphoma (DLBCL) cell lines. 28251496 2017
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma
0.030 Biomarker disease BEFREE In addition, mutations in a number of genes including GNA13, TP53, and SMARCA4 occur in Burkitt lymphoma. 24867287 2014