RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Disease: Aganglionosis, Colonic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		0.400 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: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		0.400 GeneticVariation disease BEFREE Heterozygous p.S811F RET gene mutation associated with renal agenesis, oligomeganephronia and total colonic aganglionosis: a case report. 27717313 2016
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		0.400 GeneticVariation disease BEFREE Cumulative effects of the RET and EDNRB genes contribute to long-segment and total colonic aganglionosis. 25638620 2015
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		0.400 GeneticVariation disease BEFREE While RET common variants are strongly associated with the commonest manifestation of the disease (males; short-segment aganglionosis; sporadic), rare coding sequence (CDS) variants are more frequently found in the lesser common and more severe forms of the disease (females; long/total colonic aganglionosis; familial).Here we present the screening for RVs in the RET CDS and intron/exon boundaries of 601 Chinese HSCR patients, the largest number of patients ever reported. 22174939 2011
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		0.400 GeneticVariation disease BEFREE The findings suggest that both RET and NTRK3 mutations acting together are necessary and sufficient for the appearance of the disease, and that the EDN3 mutation is acting as a phenotype-modifier factor in the context of this family, as two different HSCR phenotypes are seen among the affected members: a short segment form, and a total colonic aganglionosis. 19556619 2009
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		0.400 GeneticVariation disease BEFREE Potential disease-related RET gene mutations include exon 17-21 genetic variations that suggest the possibility of disrupted downstream signaling pathways from vital gene recruitment sites as possible TCA contributing factors. 19853744 2009
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		0.400 GeneticVariation disease BEFREE Splice RET mutation plus variants of exon 17 (973L) affected 2 children with identical total colonic aganglionosis. 18280283 2008
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		0.400 GeneticVariation disease BEFREE Hirschsprung's disease (HSCR, colonic aganglionosis) is an oligogenic entity that usually requires mutations in RET and other interacting loci. 18081917 2008
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		0.400 GeneticVariation disease BEFREE In the interests of simplifying genetic molecular diagnosis, I suggest the following guidelines: 1) only in cases of total colonic aganglionosis (TCA) is it advisable to carry out full RET mutation screening (the mutation rate is up to 70 %); and 2) all HSCR patients should be tested only for standard MEN2A and MTC mutations. 18493886 2008
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		0.400 GeneticVariation disease BEFREE Hirschsprung's disease (HSCR, colonic aganglionosis) is an oligogenic entity that usually requires mutations in RET and other interacting loci. 17640327 2007
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		0.400 GeneticVariation disease BEFREE Two family members (mothers of TCA patients) with detected RET mutation underwent prophylactic TTE with MTC finding. 17021738 2006
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		0.400 GeneticVariation disease BEFREE Loss-of-function mutations of RET cause Hirschsprung's disease (HSCR) or colonic aganglionosis. 15982921 2005
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		0.400 GeneticVariation disease BEFREE Relationship between the type of RET/GDNF/NTN or SOX10 gene mutations and long-term results after surgery for total colonic aganglionosis with small bowel involvement. 11685702 2001
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		0.400 Biomarker disease CTD_human Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. 8896568 1996
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		0.400 Biomarker disease CTD_human Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. 8114938 1994