Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2
0.530 GeneticVariation disease BEFREE By contrast, SMARCA2 duplication rather than mutations is characteristic for Coffin-Siris syndrome. 31722744 2019
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2
0.530 GeneticVariation disease BEFREE Other genes encoding subunits of this complex, such as ARID1A, ARID1B, and SMARCA2, are mutated in association with Coffin-Siris syndrome (CSS) and Nicolaides Baraitser syndrome (NCBRS) phenotypes. 30838730 2019
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2
0.530 GeneticVariation disease BEFREE Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome. 27264538 2016
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2
0.530 Biomarker disease CTD_human Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308 2012
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2
0.530 Biomarker disease GENOMICS_ENGLAND