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.