Gene: RET ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 Biomarker disease HPO
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 SusceptibilityMutation disease CLINVAR
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 GeneticVariation disease CLINVAR
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 GeneticVariation disease BEFREE Hirschsprung's disease is a nonneoplastic disorder associated with RET mutations leading to a loss of function effect. 10323403 1999
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 GeneticVariation disease BEFREE Hirschsprung's disease was found in 50% of the patients with the RET mutation in C620. 17208566 2007
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 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
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 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
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 GeneticVariation disease BEFREE Hirschsprung disease (HSCR), a multifactorial disorder of enteric nervous system (ENS) development, is associated with at least 24 genes and seven chromosomal loci, with RET and EDNRB as its major genes. 31313802 2019
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 GeneticVariation disease BEFREE RET mutations cause several human diseases such as papillary thyroid carcinoma, multiple endocrine neoplasia types 2A and 2B, and Hirschsprung's disease. 11544105 2001
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 AlteredExpression disease BEFREE RET gene expression is characterized by high tissue and stage specificity during the development of neural crest derivatives and in the pathogenesis of inherited cancer syndromes and Hirschsprung disease. 16144862 2005
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 Biomarker disease BEFREE RET was shown to act as a modifier gene for the HSCR phenotype in patients with CCHS but not with MWS. 16443855 2006
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 Biomarker disease BEFREE RET receptor signaling: dysfunction in thyroid cancer and Hirschsprung's disease. 16634961 2006
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 GeneticVariation disease LHGDN RET polymorphisms and the risk of Hirschsprung's disease in a Chinese population. 18612588 2008
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 GeneticVariation disease BEFREE Rearranged during transfection (RET) germ-line mutations in exon 10 are peculiar because they produce both gain-of-function multiple endocrine neoplasia 2A and loss-of-function Hirschsprung's disease phenotypes. 18936155 2009
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 GeneticVariation disease BEFREE RET is a well-established susceptibility locus, although existing evidence strongly suggests additional loci contributing to sporadic HSCR. 19196962 2009
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 GeneticVariation disease BEFREE RET variations were detected in 82% (18/22)of TCA as opposed to 33% short segment (S-HSCR) with multiple genetic RET variations in 5 (28%). 19853744 2009
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 GeneticVariation disease BEFREE RET, a gene causatively mutated in Hirschsprung disease and cancer, has recently been implicated in breast cancer estrogen (E2) independence and tamoxifen resistance. 21737465 2011
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 Biomarker disease BEFREE RET is a candidate gene for IHPS due to its role in the development of the intrinsic innervation and ganglia of the smooth musculature and the association of RET variants with another motility disorder (Hirschsprung's disease). 22169991 2011
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 Biomarker disease BEFREE RET promoter and intron 1 variations have been shown to interfere with RET function, increasing the risk of HD pathogenesis. 22325379 2012
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 Biomarker disease BEFREE RET and NRG1 interplay in Hirschsprung disease. 23400839 2013
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 GeneticVariation disease BEFREE RET and PHOX2B genetic polymorphisms and Hirschsprung's disease susceptibility: a meta-analysis. 24651702 2014
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 GeneticVariation disease BEFREE RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease. 24897126 2014
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 GeneticVariation disease BEFREE RET and NRG1 variants are common susceptibility factors for HSCR in Indonesia. 25475805 2014
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 GeneticVariation disease BEFREE RET gene promoter variation correlated with extended aganglionosis in 6/35 kindreds (17%). 25638620 2015
Entrez Id: 5979
Gene Symbol: RET
RET 		0.700 GeneticVariation disease BEFREE RET rs2435357 also showed significant frequency differences by gender, segment length of aganglionosis and familiality. 25666438 2015