Table 4.

Pathways that show enrichment of genes by MAGENTA analysis.

DatabaseGene SetEffective Gene Set SizeNo. Expected Genes (> 75% cutoff)No. Observed Genes (> 75% cutoff)Nominal pFDR pSignificant Genes*
GOTERMDorsal/ventral neural tube patterning133111.00 × 10−55.60 × 10−3PAX7, SHH, GLI2, BMP4, PTCH1, SMO, MNX1, PSEN1, GSC, PSEN2, FOXA2
GOTERMIron ion transport226151.00 × 10−41.09 × 10−2STEAP4, STEAP3, SLC25A28, SLC39A14, SLC40A1, SFXN5, FTL, TTYH1, STEAP2, MFI2, SFXN1, SFXN2, SFXN4, TF, FTH1
  • * Enriched genes with scores in the top 25% of all gene scores. Best SNP p values range from 1.68 × 10−3 to 1.27 × 10−6 for the dorsal/ventral neural tube patterning pathway and from 2.62 × 10−3 to 1.18 × 10−4 for the iron ion transport pathway. MAGENTA: Meta-Analysis Gene-set Enrichment of variant Associations; FDR: false discovery rate.