Disease: Atypical Teratoid Rhabdoid Tumor ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 SomaticCausalMutation disease ORPHANET
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 GeneticVariation disease BEFREE Atypical teratoid/rhabdoid tumor (AT/RT) is a rhabdoid tumor of the central nervous system comprising a mixture of small round cells and mesenchymal and/or epithelial elements, showing mutation of the SMARCB1 gene or SMARCA4 gene. 23880166 2013
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 GeneticVariation disease BEFREE AT/RTs are characterized by biallelic inactivating mutations of the gene SMARCB1 in 98% of patients; these mutations may serve as molecular markers for residual tumor cell detection in liquid biopsies. 25016934 2014
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 GeneticVariation disease BEFREE Atypical teratoid/rhabdoid tumor (AT/RT) is a malignant tumor that is commonly associated with biallelic alterations of SMARCB1. 28731921 2017
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 AlteredExpression disease BEFREE SMARCB1 inactivation is a well-established trigger event in atypical teratoid/rhabdoid tumor. 30169623 2018
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 GeneticVariation disease BEFREE A consistent fraction of cases carries de-novo SMARCB1/INI1 constitutional mutations in the setting of the "rhabdoid tumor predisposition syndrome" and the outcome is worst in infant syndromic ATRT patients. 23510391 2013
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 GeneticVariation disease BEFREE A mutation or deletion in the INI1 gene occurs in the majority of AT/RT tumors. 16195799 2005
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 GeneticVariation 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: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 AlteredExpression disease BEFREE All 4 poorly differentiated chordomas and all AT/RTs lacked nuclear expression of SMARCB1/INI1, while the 10 typical chordomas maintained strong nuclear SMARCB1/INI1 immunoreactivity. 21057957 2010
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 Biomarker disease BEFREE Amplification of the miRNA cluster at 19q13.42 has been identified previously as a genetic hallmark for ETMR, but an immunohistochemistry-based assay for clinical routine diagnostics [such as INI-1 for atypical teratoid rhabdoid tumor (AT/RT)] is still lacking. 23161096 2012
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 Biomarker disease BEFREE An atypical teratoid-rhabdoid tumor was ruled out due to the presence of the INI1-protein. 24131750 2014
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 AlteredExpression disease BEFREE As expected, INI1 expression was lacking in CHLA-266 (AT/RT). 22120608 2012
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 Biomarker disease BEFREE Aside from loss of function mutations in the SMARCB1 (BAF47/INI1/SNF5) chromatin remodeling gene, little is known of other molecular drivers of AT/RT. 25638158 2015
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 Biomarker disease BEFREE Atypical teratoid/rhabdoid tumors (AT/RTs) are highly aggressive pediatric brain tumors characterized by the presence of rhabdoid cells and negative immunostaining for INI1 (BAF47). 19220299 2010
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 AlteredExpression disease BEFREE Both components shared the same BRAF mutation, supporting their common origin, and hence the case was speculated as an AT/RT arising in the setting of a PXA by secondary genetic change of inactivation of INI1. 28502320 2018
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 Biomarker disease BEFREE Collectively, SMARCB1-deficient hPSCs offer the human models for AT/RT, which uncover the role of the activated ESC-like signature in the poor prognosis and unique histology of AT/RT. 30840885 2019
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 AlteredExpression disease BEFREE Consistent loss of SMARCB1 nuclear expression has been considered as the hallmark abnormality for both subtypes, a feature shared with atypical teratoid/rhabdoid tumor of infancy (ATRT). 24585572 2014
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 Biomarker disease CLINGEN Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. 10521299 1999
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 AlteredExpression disease BEFREE Cyclin D1 is overexpressed in atypical teratoid/rhabdoid tumor with hSNF5/INI1 gene inactivation. 15981100 2005
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 Biomarker disease BEFREE Direct DNA sequencing showed no INI1 sequence alternation in 3 of 4 AT/RTs. 22020042 2012
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 Biomarker disease CLINGEN Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. 19124645 2009
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 Biomarker disease CLINGEN Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene. 10739763 2000
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 Biomarker disease BEFREE For example, INI-1 immunohistochemistry has assisted in identifying several previously unrecognized cases of rhabdoid cell-poor atypical teratoid rhabdoid tumor (ATRT). 20919607 2010
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 Biomarker disease MGD Genetic ablation of Cyclin D1 abrogates genesis of rhabdoid tumors resulting from Ini1 loss. 16099835 2005
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		0.800 Biomarker disease CLINGEN Genetic ablation of Cyclin D1 abrogates genesis of rhabdoid tumors resulting from Ini1 loss. 16099835 2005