Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis
0.610 GeneticVariation disease GWASCAT Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. 27702942 2017
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis
0.610 GeneticVariation disease GWASCAT A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease. 25310821 2015
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis
0.610 GeneticVariation disease GWASCAT Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. 19196962 2009
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis
0.610 GeneticVariation disease BEFREE Mutations in the RET gene are the primary cause of Hirschsprung disease (HSCR), or congenital intestinal aganglionosis. 18414682 2008
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis
0.610 Biomarker disease CTD_human Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. 8896568 1996
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis
0.610 Biomarker disease CTD_human Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. 8114938 1994
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis
0.610 SusceptibilityMutation disease ORPHANET