Condition: Congenital Intestinal Aganglionosis


rs62472985 in LOC101927378 gene and Congenital Intestinal Aganglionosis PMID 29379196 2018 Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.

rs16879552 in NRG1 gene and Congenital Intestinal Aganglionosis PMID 19196962 2009 Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

PMID 25310821 2014 A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease.

PMID 27702942 2016 Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

rs1864400 in RET gene and Congenital Intestinal Aganglionosis PMID 25310821 2014 A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease.

PMID 30031151 2019 Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant.

PMID 27702942 2016 Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

PMID 19196962 2009 Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

rs4672229 in VRK2;LOC107984043 gene and Congenital Intestinal Aganglionosis PMID 27702942 2016 Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.