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Table 4 Gene set enrichment analysis on genes encompassed by CNVs and SNPs

From: Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis

Gene seta P b FDR q b
Genes encompassed by BA-CNVs
 Antigen_processing_ubiquitinaination_proteasome_degradation 1.05 × 10−3 0.070
 Signaling_by_the_B_cell_recepceptor_BCR 2.39 × 10−3 0.096
 Class_I_MHC_mediated_antigen_processing_presentation 1.95 × 10−3 0.096
Genes tagged by SNP associations
 IL1R_pathway 1.30 × 10−3 0.16
  1. aIL1R pathway in the listed gene sets are from BIOCARTA database, the others enlisted are from REACTOME; bThe association stats on CNVs and SNPs were obtained from different statistical test as described in methods