Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 Biomarker group BEFREE In summary, we found that in MM: (i) multiple minute simultaneous biallelic deletions are frequent in chromosome 3p21, where they occur as distinct events involving multiple genes; (ii) in addition to BAP1, mutations of SETD2, PBRM1, and SMARCC1 are frequent in MM; and (iii) our results suggest that high-density aCGH combined with tNGS provides a more precise estimate of the frequency and types of genes inactivated in human cancer than approaches based exclusively on NGS strategy. 27834213 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 AlteredExpression group BEFREE Collectively, these data suggest that loss of BAF155 expression represents another mechanism for inactivation of SWI/SNF complex activity in the development in human cancer. 22139574 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 Biomarker group BEFREE Among the affected BAF complex subunits, we determined Smarcd2 and Smarcc1 as putative driver candidates not yet fully identified by large-scale cancer genome sequencing projects. 28692054 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 Biomarker group BEFREE Among the affected BAF complex subunits, we determined Smarcd2 and Smarcc1 as putative driver candidates not yet fully identified by large-scale cancer genome sequencing projects. 28692054 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 AlteredExpression group BEFREE Collectively, these data suggest that loss of BAF155 expression represents another mechanism for inactivation of SWI/SNF complex activity in the development in human cancer. 22139574 2011
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 Biomarker group BEFREE In summary, we found that in MM: (i) multiple minute simultaneous biallelic deletions are frequent in chromosome 3p21, where they occur as distinct events involving multiple genes; (ii) in addition to BAP1, mutations of SETD2, PBRM1, and SMARCC1 are frequent in MM; and (iii) our results suggest that high-density aCGH combined with tNGS provides a more precise estimate of the frequency and types of genes inactivated in human cancer than approaches based exclusively on NGS strategy. 27834213 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 Biomarker disease BEFREE However, the role of SMARCC1 in CRC tumorigenesis has not been elucidated. 30144500 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 Biomarker disease BEFREE Dysregulation of the transcription factors SOX4, CBFB and SMARCC1 correlates with outcome of colorectal cancer. 19156145 2009
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 Biomarker phenotype BEFREE The SMARCC1 was a direct target of miR-202-5p and promoted the growth and metastasis of CRC cells. 30144500 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 Biomarker phenotype BEFREE Methylation of BAF155 at R1064 was found to be an independent prognostic biomarker for cancer recurrence and to regulate breast cancer cell migration and metastasis. 24434208 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Mechanistically, CARM1 promotes EZH2-mediated silencing of EZH2/BAF155 target tumor suppressor genes by methylating BAF155, which leads to the displacement of BAF155 by EZH2. 29434212 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Therefore, we screened for BAF155 deficiency in a large number of human tumor cell lines. 22139574 2011
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 Biomarker phenotype BEFREE However, the role of SMARCC1 in CRC tumorigenesis has not been elucidated. 30144500 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 Biomarker phenotype BEFREE These results suggest that BAF155 plays important roles in ubiquitin-independent degradation of HBx, which may be related to the pathogenesis and carcinogenesis of HBV-associated HCC. 31533543 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE Methylation of BAF155 at R1064 was found to be an independent prognostic biomarker for cancer recurrence and to regulate breast cancer cell migration and metastasis. 24434208 2014
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.010 GeneticVariation disease BEFREE We report a monozygotic twin with severe NTDs (occipital encephalocele and myelomeningocele) and a shared de novo, likely truncating, variant in SMARCC1. 29360170 2018
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 GeneticVariation disease BEFREE This review discusses the recent progress in understanding SWI/SNF alterations in ovarian cancer and specifically focuses on: (i) <i>ARID1A</i> mutation in endometriosis-associated clear cell and endometrioid histologic subtypes of ovarian cancer; (ii) <i>SMARCA4</i> mutation in small cell carcinoma of the ovary, hypercalcemic type; and (iii) amplification/upregulation of <i>CARM1</i>, a regulator of BAF155, in high-grade serous ovarian cancer. 30037854 2018
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 Biomarker disease BEFREE Here we report that BAF155 protected hepatitis B virus X protein (HBx) from ubiquitin-independent proteasomal degradation by competing with the 20S proteasome subunit PSMA7 to bind to HBx. 31533543 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 Biomarker disease BEFREE Interestingly, gene ontology (GO) term and pathway analysis suggested that SMARCC1 occupancy was enriched on genes regulating Rac GTPase activation, cell trafficking, and AML-associated transcriptional dysregulation. 29483235 2018
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 AlteredExpression disease BEFREE Aberrant DNA methylation status and mRNA expression levels were also identified for selected genes (PSD, SMARCC1 and Vps37A) in the GC cell lines. 25738530 2015
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		0.010 GeneticVariation disease BEFREE We report a monozygotic twin with severe NTDs (occipital encephalocele and myelomeningocele) and a shared de novo, likely truncating, variant in SMARCC1. 29360170 2018
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.010 GeneticVariation group BEFREE We report a monozygotic twin with severe NTDs (occipital encephalocele and myelomeningocele) and a shared de novo, likely truncating, variant in SMARCC1. 29360170 2018
CUI: C0040100
Disease: Thymoma
Thymoma 		0.010 AlteredExpression disease BEFREE The expression of anti-sense RNA to SRG3 mRNA in a thymoma cell line, S49.1, reduced the expression level of the SRG3 protein, and decreased the apoptotic cell death induced by glucocorticoids. 9151708 1997
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 GeneticVariation disease BEFREE This review discusses the recent progress in understanding SWI/SNF alterations in ovarian cancer and specifically focuses on: (i) <i>ARID1A</i> mutation in endometriosis-associated clear cell and endometrioid histologic subtypes of ovarian cancer; (ii) <i>SMARCA4</i> mutation in small cell carcinoma of the ovary, hypercalcemic type; and (iii) amplification/upregulation of <i>CARM1</i>, a regulator of BAF155, in high-grade serous ovarian cancer. 30037854 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 Biomarker phenotype BEFREE CARM1 methylates chromatin remodeling factor BAF155 to enhance tumor progression and metastasis. 24434208 2014