Active: Hirschsprung disease Clear all

GWAS 2018-07-18

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

Virtanen VB, Salo PP et al.

Eur J Med Genet

The pathogenesis of Hirschsprung disease is complex. Although the RET proto-oncogene is the most fre...

Hirschsprung disease

Replicated

822

Participants

N/A

Studies

Details PubMed

GWAS 2018-01-29

Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.

Fadista J, Lund M et al.

Eur J Hum Genet

Hirschsprung disease (HSCR) is a congenital disorder with a population incidence of ~1/5000 live bir...

Hirschsprung disease

Replicated

6206

Participants

N/A

Studies

Details PubMed

GWAS 2016-10-03

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

Tang CS, Gui H et al.

Hum Mol Genet

Hirschsprung disease (HSCR) is the most common cause of neonatal intestinal obstruction. It is chara...

Hirschsprung disease

1708

Participants

N/A

Studies

Details PubMed

GWAS 2016-02-18

Exome-Wide Association Study Identified New Risk Loci for Hirschsprung's Disease.

Tang W, Tang J et al.

Mol Neurobiol

Hirschsprung disease (HSCR) is a rare congenital disease caused by impaired proliferation and migrat...

Hirschsprung disease

1067

Participants

N/A

Studies

Details PubMed

GWAS 2014-10-13

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

Kim JH, Cheong HS et al.

PLoS One

Hirschsprung disease (HSCR) is a congenital and heterogeneous disorder characterized by the absence ...

Hirschsprung disease

555

Participants

N/A

Studies

Details PubMed

GWAS 2009-02-05

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

Garcia-Barcelo MM, Tang CS et al.

Proc Natl Acad Sci U S A

Hirschsprung's disease (HSCR), or aganglionic megacolon, is a congenital disorder characterized by t...

Hirschsprung disease

Replicated

1227

Participants

N/A

Studies

Details PubMed

Title

Author

Journal

Disease/Trait

Date

Actions

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

Virtanen VB, Salo PP et al.

Eur J Med Genet

Hirschsprung disease

2018-07-18

Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.

Fadista J, Lund M et al.

Eur J Hum Genet

Hirschsprung disease

2018-01-29

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

Tang CS, Gui H et al.

Hum Mol Genet

Hirschsprung disease

2016-10-03

Exome-Wide Association Study Identified New Risk Loci for Hirschsprung's Disease.

Tang W, Tang J et al.

Mol Neurobiol

Hirschsprung disease

2016-02-18

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

Kim JH, Cheong HS et al.

PLoS One

Hirschsprung disease

2014-10-13

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

Garcia-Barcelo MM, Tang CS et al.

Proc Natl Acad Sci U S A

Hirschsprung disease

2009-02-05