Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor
0.100 Biomarker disease BEFREE Mechanistically, we show that SMARCB1 loss causes increased BRD9 incorporation into SWI/SNF thus providing insight into BRD9 vulnerability in RTs. 31015438 2019
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor
0.100 GeneticVariation disease BEFREE We show that loss of SMARCB1, a subunit of the SWI/SNF (BAF) complex mutated in nearly all MRTs, sensitized cells to MDM2 and MDM2/4 inhibition by enhancing p53-mediated apoptosis. 30755442 2019
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor
0.100 Biomarker disease BEFREE Abnormalities of SMARCB1 (INI1), which encodes a member of the SWI/SNF pathway, are found in neoplasms with rhabdoid morphology, such as malignant rhabdoid tumour of the kidney and atypical teratoid/rhabdoid tumour of the central nervous system. 27656868 2017
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor
0.100 Biomarker disease BEFREE SMARCB1 (also known as SNF5, INI1, and BAF47), a core subunit of the SWI/SNF (BAF) chromatin-remodeling complex, is inactivated in nearly all pediatric rhabdoid tumors. 27941797 2017
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor
0.100 Biomarker disease BEFREE Alterations in this gene, or the related SWI/SNF chromatin remodeling gene SMARCB1, have been previously reported in atypical teratoid/rhabdoid tumors (ATRTs) and malignant rhabdoid tumors (MRTs). 26646792 2016
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor
0.100 Biomarker disease BEFREE These data establish that SNF5 loss during MRT development alters the repertoire of available SWI/SNF complexes, generally disrupting those associated with cellular differentiation. 25009291 2014
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor
0.100 Biomarker disease BEFREE The silencing of the SWI/SNF subunit and anticancer gene BRM in Rhabdoid tumors. 24913006 2014
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor
0.100 AlteredExpression disease BEFREE We show that SNF5 recruits the SWI/SNF complex to the BIN1 promoter, and that the marked reduction of BIN1 expression in RT correlates with decreased SWI/SNF occupancy. 22544318 2012
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor
0.100 Biomarker disease BEFREE INI1/hSNF5 is a component of the chromatin remodeling SWI/SNF complex and a tumor suppressor deleted in RT. 21521802 2011
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor
0.100 GeneticVariation disease BEFREE We identified inactivation of another member of the SWI/SNF chromatin-remodeling complex, its ATPase subunit SMARCA4 (also known as BRG1), due to a SMARCA4/BRG1 germline mutation and loss of heterozygosity by uniparental disomy in the tumor cells of two sisters with rhabdoid tumors lacking SMARCB1 mutations. 20137775 2010
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor
0.100 GeneticVariation disease BEFREE Malignant rhabdoid tumor (MRT) is a rare and aggressive tumor associated with deletion or mutation of a tumor suppressor gene SMARCB1/INI1, a member of the SWI/SNF chromatin-remodeling complex. 17040295 2006
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor
0.100 Biomarker disease BEFREE The Ini1 subunit of the SWI/SNF chromatin remodeling complex suppresses formation of malignant rhabdoid tumors in humans and mice. 16912184 2006
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor
0.100 Biomarker disease BEFREE The SMARCB1/INI1 gene encodes for an invariant subunit of SWI/SNF chromatin remodeling complex and has been previously reported to act as a tumor suppressor gene frequently inactivated in infantile malignant rhabdoid tumors. 15899790 2005
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor
0.100 Biomarker disease BEFREE The hSNF5 subunit of human SWI/SNF ATP-dependent chromatin remodeling complexes is a tumor suppressor that is inactivated in malignant rhabdoid tumors (MRTs). 15769941 2005
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor
0.100 Biomarker disease BEFREE hSNF5, the smallest member of the SWI/SNF chromatin remodeling complex, is lost in most malignant rhabdoid tumors (MRT). 16288006 2005
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor
0.100 Biomarker disease BEFREE Truncating mutations and homozygous deletions in the hSNF5/INI1/BAF47 subunit of human SWI/SNF complexes occur in most malignant rhabdoid tumors and some other malignancies. 12149641 2002
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor
0.100 Biomarker disease BEFREE The role of INI1 and the SWI/SNF complex in the development of rhabdoid tumors: meeting summary from the workshop on childhood atypical teratoid/rhabdoid tumors. 11782395 2002
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor
0.100 Biomarker disease BEFREE The hSNF5/INI1 gene, which encodes a subunit of the SWI/SNF family of chromatin-remodeling complexes and is located at 22q11.2, has been reported as a tumor suppressor gene inactivated in malignant rhabdoid tumors (MRTs). 11921280 2002
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor
0.100 GeneticVariation disease BEFREE This deleted region is close to hSNF5/INI1 (SMARCB1), a gene that encodes a widely expressed component of the SWI/SNF chromatin remodeling complex and that suffers biallelic mutations in malignant rhabdoid tumors. 10463572 1999
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor
0.100 GeneticVariation disease BEFREE The hSNF5/INI1 gene which encodes a member of the SWI/SNF chromatin ATP-dependent remodeling complex, is a new tumor suppressor gene localized on chromosome 22q11.2 and recently shown to be mutated in malignant rhabdoid tumors. 10556283 1999