Gui et al., 2017 - Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes. Genome biology   18:48 Full text @ Genome Biol.
16 Genes / Markers
Marker Type Symbol Name
Gene aff3 AF4/FMR2 family, member 3
Gene ckap2l cytoskeleton associated protein 2-like
Gene dab2ipa DAB2 interacting protein a
Gene dennd3a DENN/MADD domain containing 3a
Gene dennd3b DENN/MADD domain containing 3b
Gene hmcn1 hemicentin 1
Gene isg20l2 interferon stimulated exonuclease gene 20-like 2
Gene kdm4aa lysine (K)-specific demethylase 4A, genome duplicate a
Gene kdm4ab lysine (K)-specific demethylase 4A, genome duplicate b
Gene ncln nicalin
Gene nup98 nucleoporin 98 and 96 precursor
Gene scube3 signal peptide, CUB domain, EGF-like 3
Gene tbata thymus, brain and testes associated
Gene tp53 tumor protein p53
Gene vezf1a vascular endothelial zinc finger 1a
Gene vezf1b vascular endothelial zinc finger 1b