Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Rhabdoid tumor predisposition syndrome
0.340 GeneticVariation disease BEFREE In the last decade, sporadic publications have shown that a different SWI/SNF protein, brahma-related gene 1 (BRG1), encoded by the <i>SMARCA4</i> gene, is associated with a similar rhabdoid phenotype and possible germline mutation termed rhabdoid tumor predisposition syndrome type 2. 31403913 2020
Rhabdoid tumor predisposition syndrome
0.340 Biomarker disease BEFREE Approximately one-third of pediatric malignant rhabdoid tumors are linked to germline SWI/SNF alterations (SMARCB1/INI1, rarely SMARCA4) resulting in occasional familial clustering of these highly aggressive malignancies (so-called rhabdoid tumor predisposition syndrome, RTPS, types 1 and 2, respectively). 29397238 2018
Rhabdoid tumor predisposition syndrome
0.340 GeneticVariation disease BEFREE Recently, inactivating mutations in SMARCA4 have been found in two cases of rhabdoid tumour predisposition syndrome type 2. 23775540 2013
Rhabdoid tumor predisposition syndrome
0.340 GermlineCausalMutation disease ORPHANET Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoidrhabdoid tumor showing retained SMARCB1 (INI1) expression. 21566516 2011
Rhabdoid tumor predisposition syndrome
0.340 GeneticVariation disease BEFREE Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. 20137775 2010
Rhabdoid tumor predisposition syndrome
0.340 GermlineCausalMutation disease ORPHANET Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. 20137775 2010