Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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0.570 | AlteredExpression | disease | BEFREE | The regulation of ATM/ATR is rendered non-functional in Schimke Immuno-Osseous Dysplasia where SMARCAL1 is mutated and in Coffin-Siris Syndrome where BRG1 is mutated. | 30317028 | 2018 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
0.570 | AlteredExpression | disease | BEFREE | The importance of BRG1/RNA and BRG1/homeodomain interactions in neurodevelopmental disorders is underscored by the finding that mutations in Coffin-Siris syndrome, a human intellectual disability disorder, localize to the BRG1 RNA-binding and DLX1-binding domains. | 26138476 | 2015 | ||||
|
0.570 | Biomarker | disease | BEFREE | In summary, SMARCA4-associated CSS is a pleiotropic disorder in which the pathognomic clinical features evolve and for which the few reported individuals do not demonstrate a clear genotype-phenotype correlation. | 24700502 | 2014 | ||||
|
0.570 | GeneticVariation | disease | BEFREE | SMARCA4 mutations caused CSS without typical facial coarseness and with significant digital/nail hypoplasia. | 23637025 | 2013 | ||||
|
0.570 | Biomarker | disease | CTD_human | Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. | 22426308 | 2012 | ||||
|
0.570 | Biomarker | disease | GENOMICS_ENGLAND |