RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Disease: Short segment Hirschsprung's disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0345237
Disease: Short segment Hirschsprung's disease
Short segment Hirschsprung's disease 		0.030 Biomarker disease BEFREE A short-segment Hirschsprung disease (HSCR) patient associated with 21 trisomy showing point nucleotidic changes in both the receptor tyrosine kinase (RET) proto-oncogene and the endothelin-B receptor (EDNRB) gene is reported. 10458491 1999
CUI: C0345237
Disease: Short segment Hirschsprung's disease
Short segment Hirschsprung's disease 		0.030 GeneticVariation disease BEFREE We created induced pluripotent stem cell (iPSC) lines from 1 patient with total colonic aganglionosis (with the G731del mutation in RET) and from 2 patients with S-HSCR (without a RET mutation), as well as RET<sup>+/-</sup> and RET<sup>-/-</sup> iPSCs. 28342760 2017
CUI: C0345237
Disease: Short segment Hirschsprung's disease
Short segment Hirschsprung's disease 		0.030 GeneticVariation disease BEFREE Frequency of RET mutations in long- and short-segment Hirschsprung disease. 9090527 1997