Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 GeneticVariation disease CLINVAR Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. 24658001 2014
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 GeneticVariation disease CLINVAR Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. 24658002 2014
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.600 GeneticVariation disease CLINVAR
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.600 GeneticVariation disease UNIPROT Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308 2012
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.570 GeneticVariation disease BEFREE SMARCA4 mutations caused CSS without typical facial coarseness and with significant digital/nail hypoplasia. 23637025 2013
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.570 GeneticVariation disease BEFREE This study suggests that SMARCA4 constitutional mutations associated with CSS are not necessarily non-truncating, and that haploinsufficiency may explain milder CSS phenotypes, as previously reported for haploinsufficient ARID1B. 28608987 2017
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.570 GeneticVariation disease BEFREE Furthermore, mutations in the same positions were reported in malignant tumors, and a de novo missense substitution in an equivalent arginine residue in the C-terminal helicase domain of SMARCA4 is associated with Coffin Siris syndrome. 27616479 2016
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.570 GeneticVariation disease BEFREE Coffin-Siris syndrome (CSS; MIM 135900) is a multisystem congenital anomaly syndrome caused by mutations in the genes in the Brg-1 associated factors (BAF) complex. 30276971 2018
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.400 GeneticVariation disease BEFREE Immunohistochemical analysis of a cohort of non-small-cell lung carcinomas (NSCLC) indicated that 15.5% (16 of 103) of the cohort, corresponding to preferentially undifferentiated tumors, was deficient in BRG1 expression. 23872584 2013
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.400 GeneticVariation disease BEFREE Here, we tested whether targeting one of the two mutually exclusive subdomains of the SWI/SNF complex BRM/SMARCA2 can sensitize specifically non-small cell lung carcinoma (NSCLC) cells with mutations in the other subunit BRG1/SMARCA4 toward ionizing radiation (IR). 30478150 2019
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 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 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 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 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 GeneticVariation disease BEFREE Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. 24658002 2014
CUI: C0262584
Disease: Carcinoma, Small Cell
Carcinoma, Small Cell 		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: C0262584
Disease: Carcinoma, Small Cell
Carcinoma, Small Cell 		0.400 GeneticVariation disease BEFREE Biallelic somatic SMARCA4 mutations in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). 25307865 2015
CUI: C0262584
Disease: Carcinoma, Small Cell
Carcinoma, Small Cell 		0.400 GeneticVariation disease BEFREE Recurrent SMARCA4 mutations in small cell carcinoma of the ovary. 24658004 2014
CUI: C0262584
Disease: Carcinoma, Small Cell
Carcinoma, Small Cell 		0.400 GeneticVariation disease BEFREE Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. 24658002 2014
CUI: C0262584
Disease: Carcinoma, Small Cell
Carcinoma, Small Cell 		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: C0262584
Disease: Carcinoma, Small Cell
Carcinoma, Small Cell 		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: C1261473
Disease: Sarcoma
Sarcoma 		0.400 GeneticVariation group BEFREE Newly discovered uterine sarcoma subtypes include high-grade endometrial stromal sarcomas with BCOR genetic abnormalities, fibrosarcoma-like uterine sarcomas with NTRK rearrangements and COL1A-PDGFRB fusions, as well as undifferentiated uterine sarcomas with SMARCA4 mutations. 31846533 2020
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		0.340 GeneticVariation disease BEFREE Here, we discuss the function of histone acetyltransferases (CREBBP, EP300), histone methyltransferases (KDM2C/D, EZH2) and regulators of higher order chromatin structure (HIST1H1C/D/E, ARID1A and SMARCA4) that have been reported to be mutated in ⩾5% of DLBCL, FL or BL. 26473533 2015
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		0.340 GeneticVariation disease BEFREE In particular, the core ATPase BRG1 is mutated in 5-10% of childhood medulloblastomas and more than 15% of Burkitt's lymphomas. 23698369 2013