RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis
0.420 GeneticVariation disease GWASCAT A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease. 25310821 2014
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis
0.420 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
0.420 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
0.420 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
0.420 GeneticVariation disease BEFREE Mutations in the receptor tyrosine kinase RET gene are associated with Hirschsprung disease (HD), which is also known as congenital intestinal aganglionosis. 20123584 2010
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis
0.420 GeneticVariation disease GWASCAT Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant. 30031151 2019
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis
0.420 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
0.420 GeneticVariation disease GWASCAT Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. 27702942 2016