RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Disease: Hirschsprung Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 Biomarker disease HPO
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 SusceptibilityMutation disease CLINVAR
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease CLINVAR
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE MEN2A and MEN2B have recently been mapped within the centromeric region closely linked to RBP3 and D10S15 (which are located inside the deletion) and cosegregate with HSCR in at least two different pedigrees. 8467706 1993
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease. 7904208 1993
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 Biomarker disease BEFREE This information is relevant for the screening of recently reported missense mutations of RET which cause Multiple Endocrine Neoplasia 2A (MEN2A) and for the search of additional point mutations of the same gene which might cause two other neural crest disorders, MEN2B and Hirschsprung disease, mapping in the same region as MEN2A. 7902707 1993
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 Biomarker disease CTD_human Using flanking intronic sequences as primers to amplify 12 of the 20 exons of RET from genomic DNA of 27 Hirschsprung's disease patients, we have now identified four mutations (one frameshift and three missense) that totally disrupt or partially change the structure of the tyrosine kinase domain of the RET protein (Ret). 8114938 1994
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE Heterogeneity and low detection rate of RET mutations in Hirschsprung disease. 7704557 1994
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 Biomarker disease MGD Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. 8114940 1994
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE Thus, germ-line mutations of the RET gene may contribute either to developmental anomalies in HSCR or to inherited predisposition to cancer in MEN 2A. 8114939 1994
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 CausalMutation disease CLINVAR RET proto-oncogene mutations in French MEN 2A and FMTC families. 7874109 1994
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 AlteredExpression disease BEFREE Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus. 7815416 1994
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE In the fifth family, FMTC and HSCR were present but we could not determine whether HSCR arose from mutation of the RET locus. 7881414 1994
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. 8114938 1994
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE We have examined the following possible linked markers in 69 relatives in this family: the c-ret gene (HSCR); the human PAX3 gene (HuP2) on chromosome 2q (WS1) and placental alkaline phosphatase (ALPP) on chromosome 2q (linked to WS1); argininosuccinate synthetase (ASS) on chromosome 9q, close to ABO blood groups which have shown weak linkage to WS; and the beta 1 GABA receptor gene (GABARB1) on chromosome 4q13-11, close to c-kit, deletions of which cause piebaldism. 7802041 1994
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 CausalMutation disease CLINVAR Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. 7881414 1994
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE Taken together, the low penetrance of the mutant gene, the lack of genotype-phenotype correlation, the sex-dependent effect of RET mutations and the variable clinical expression of the disease support the existence of one or more modifier genes in familial HSCR. 7581377 1995
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE We describe a DNA sequence variation within the coding region of RET in two large unrelated kindreds with MEN 2A (with 83 and 42 persons affected) in which HD cosegregated with MEN 2A in seven patients. 7716719 1995
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE RET mutations in multiple endocrine neoplasia type 2 and Hirschsprung disease. 8776023 1995
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE Loss of function effect of RET mutations causing Hirschsprung disease. 7647787 1995
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 CausalMutation disease CLINVAR Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. 7633441 1995
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE Moreover, point mutations or heterozygous deletions of RET are found in the dominant form of Hirschsprung disease or congenital colonic aganglionosis. 7478601 1995
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 Biomarker disease BEFREE RET is a receptor tyrosine kinase gene which is responsible for three different inherited cancer syndromes namely multiple endocrine neoplasia type 2A (MEN 2A), type 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC) as well as for Hirschsprung disease (HSCR), a congenital disorder affecting the intestinal motility. 7784092 1995
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 Biomarker disease BEFREE The authors present an immunohistochemical study on the expression and localization of the Ret protein (a receptor tyrosine kinase, which is the RET proto-oncogene product) in the intestinal plexuses of patients with Hirschsprung's disease. 7760237 1995
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 Biomarker disease BEFREE Ret proto-oncogene has been proven to be the responsible gene not only of MEN2A but also of MEN2B, familial medullary carcinoma and Hirschsprung disease. 7579825 1995