Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
0.100 GeneticVariation group CLINVAR Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. 25168959 2014
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
0.100 GeneticVariation group CLINVAR Coffin-Siris syndrome is a SWI/SNF complex disorder. 23815551 2014
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
0.100 GeneticVariation group CLINVAR Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 23929686 2013
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
0.100 GeneticVariation group CLINVAR A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 23906836 2013
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
0.100 GeneticVariation group CLINVAR Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308 2012