Our present study provided first evidence that genetic variants within GAL, GAP43 and NRSN1 might contribute to the altered susceptibility to HSCR, and the interaction networks among GAL, GAP43, NRSN1 and our previous identified GABRG2, RELN and PTCH1 genes might confer an increased risk in HSCR. The gene discussed is PTCH1; the disease is Hirschsprung disease.