Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 Biomarker disease BEFREE miR-320c regulates gemcitabine-resistance in pancreatic cancer via SMARCC1. 23799850 2013
CUI: C0262584
Disease: Carcinoma, Small Cell
Carcinoma, Small Cell 		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: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		0.010 Biomarker disease BEFREE Herein, gene expression analysis identified a significant loss of the SWI/SNF core component SMARCC1, along with ARID1B, ACTL6A, and SMARCD1, in human AA BM CD34<sup>+</sup> HSCs and hematopoietic stem and progenitor cells (HSPCs) compared with normal HSPCs. 29596882 2018
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma 		0.010 AlteredExpression disease 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: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 Biomarker disease BEFREE miR-320c regulates gemcitabine-resistance in pancreatic cancer via SMARCC1. 23799850 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 Biomarker disease BEFREE Dysregulation of the transcription factors SOX4, CBFB and SMARCC1 correlates with outcome of colorectal cancer. 19156145 2009
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.300 Biomarker group CTD_human Varied pathways of stage IA lung adenocarcinomas discovered by integrated gene expression analysis. 21552421 2011
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.300 Biomarker group CTD_human Varied pathways of stage IA lung adenocarcinomas discovered by integrated gene expression analysis. 21552421 2011
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.300 Biomarker disease CTD_human c-Myc targeted regulators of cell metabolism in a transgenic mouse model of papillary lung adenocarcinoma. 27602772 2016
CUI: C0205641
Disease: Adenocarcinoma, Basal Cell
Adenocarcinoma, Basal Cell 		0.300 Biomarker disease CTD_human Varied pathways of stage IA lung adenocarcinomas discovered by integrated gene expression analysis. 21552421 2011
CUI: C0205642
Disease: Adenocarcinoma, Oxyphilic
Adenocarcinoma, Oxyphilic 		0.300 Biomarker disease CTD_human Varied pathways of stage IA lung adenocarcinomas discovered by integrated gene expression analysis. 21552421 2011
CUI: C0205643
Disease: Carcinoma, Cribriform
Carcinoma, Cribriform 		0.300 Biomarker disease CTD_human Varied pathways of stage IA lung adenocarcinomas discovered by integrated gene expression analysis. 21552421 2011
CUI: C0205644
Disease: Carcinoma, Granular Cell
Carcinoma, Granular Cell 		0.300 Biomarker disease CTD_human Varied pathways of stage IA lung adenocarcinomas discovered by integrated gene expression analysis. 21552421 2011
CUI: C0205645
Disease: Adenocarcinoma, Tubular
Adenocarcinoma, Tubular 		0.300 Biomarker disease CTD_human Varied pathways of stage IA lung adenocarcinomas discovered by integrated gene expression analysis. 21552421 2011
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.300 Biomarker disease CTD_human Varied pathways of stage IA lung adenocarcinomas discovered by integrated gene expression analysis. 21552421 2011
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.010 AlteredExpression group LHGDN SMARCC1 expression is upregulated in prostate cancer and positively correlated with tumour recurrence and dedifferentiation. 18581278 2008