Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.400 Biomarker disease BEFREE P40 and NUT were not expressed (0/23 and 0/20, respectively) The SMARCA4-DTS immunohistochemical signature was both sensitive and specific, with only a subset of small cell carcinoma of the ovary hypercalcemic type showing overlapping phenotypes. 30451731 2019
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.400 Biomarker disease BEFREE One such perturbation is the dual loss of the SMARCA4 and SMARCA2 ATPase subunits in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)<sup>2-5</sup>, SMARCA4-deficient thoracic sarcomas<sup>6</sup> and dedifferentiated endometrial carcinomas<sup>7</sup>. 30858614 2019
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.400 Biomarker disease BEFREE Identification of Driver Mutations in Rare Cancers: The Role of SMARCA4 in Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT). 29423809 2018
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.400 GeneticVariation disease BEFREE SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. 28608987 2017
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.400 Biomarker disease BEFREE Selective Killing of SMARCA2- and SMARCA4-deficient Small Cell Carcinoma of the Ovary, Hypercalcemic Type Cells by Inhibition of EZH2: <i>In Vitro</i> and <i>In Vivo</i> Preclinical Models. 28292935 2017
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.400 GeneticVariation disease BEFREE Comprehensive genomic profiling reveals inactivating SMARCA4 mutations and low tumor mutational burden in small cell carcinoma of the ovary, hypercalcemic-type. 29102090 2017
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.400 AlteredExpression disease BEFREE Concomitant loss of SMARCA2 and SMARCA4 expression in small cell carcinoma of the ovary, hypercalcemic type. 26564006 2016
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.400 GeneticVariation disease BEFREE We focus on adult granulosa cell tumours (somatic monoallelic mutations in FOXL2), Sertoli-Leydig cell tumours, gynaecological embryonal rhabdomyosarcomas (germline and somatic mutations in DICER1), and small-cell carcinoma of the ovary, hypercalcaemic type (biallelic mutations in SMARCA4). 27504996 2016
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.400 Biomarker disease BEFREE Dual loss of the SWI/SNF complex ATPases SMARCA4/BRG1 and SMARCA2/BRM is highly sensitive and specific for small cell carcinoma of the ovary, hypercalcaemic type. 26356327 2016
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.400 Biomarker disease BEFREE In conclusion, SMARCA4 immunohistochemistry represents a highly valuable emerging tool in identifying small cell carcinoma of the ovary, hypercalcemic type in routine practice. 26123103 2015
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.400 Biomarker disease CTD_human SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas. 26343384 2015
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.400 GeneticVariation disease BEFREE Biallelic somatic SMARCA4 mutations in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). 25307865 2015
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.400 AlteredExpression disease BEFREE MAX inactivation in small cell lung cancer disrupts MYC-SWI/SNF programs and is synthetic lethal with BRG1. 24362264 2014
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.400 GeneticVariation disease BEFREE Recurrent SMARCA4 mutations in small cell carcinoma of the ovary. 24658004 2014
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.400 GeneticVariation disease BEFREE Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. 24658002 2014
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.400 Biomarker disease BEFREE The alterations were significantly more frequent in the non-small-cell lung cancer (NSCLC) type (13/37, 35%) as compared to the small-cell lung cancer (SCLC) type (1/19, 5%) (P<0.05; Fisher's Exact test) and BRG1 was the fourth most frequently altered gene in NSCLC cell lines. 18386774 2008