Association results for the SNPs in the region spanning 40954 kb to 40973 kb on chromosome 21 for the sample with DS and HSCR.

<p>MAF: minor allele frequency, HWE: Hardy Weinberg Equilibrium test p-value, T: number of minor alleles transmitted to the affected case from heterozygotes parents, U: number of minor alleles untransmitted to the affected case from heterozygotes parents, CI 95%: 95% confidence intervals for odds-ratio, OR: odds-ratio.</p

Chromosome-21-wide p-values for the HSCR-DS sample.

<p>Chromosome-21-wide p-values for the HSCR-DS sample.</p

Electrophoretic mobility shift assays using the dimeric binding site from the <i>Cx32</i> (line 1 and 2), the monomeric binding site from the <i>MITF</i> (line 3 and 4) promoter regions, DSCAM probes containing the A allele from rs2037778 (probe A; line 6, 7 and 11) or the G allele (probe B; lines 8, 9 and 12), and empty pECE vector (−), or SOX10.

<p>The last two wells correspond to probes A and B alone.</p

Genotype at rs2837770 for the 26 triads.

<p>CDJP: Correctly disjoining parent.</p><p>NDJP: Non-disjoining parent.</p

Additional file 7: Table S6. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Gene recurrence and burden test. (XLSX 14 kb

Additional file 9: Table S8. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Characteristics of 116 ENS-related HSCR candidate genes. (XLSX 32 kb