Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 GeneticVariation disease UNIPROT 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
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 Biomarker disease GENOMICS_ENGLAND Here we show oligogenic inheritance of S-HSCR, the 3p21 and 19q12 loci as RET-dependent modifiers, and a parent-of-origin effect at RET. 11953745 2002
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 GeneticVariation disease UNIPROT Although the presence of RET mutations in group I families is sufficient to explain HSCR inheritance, a genome scan reveals a new susceptibility locus on 9q31 exclusively in group II families. 10618407 2000
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 GeneticVariation disease UNIPROT Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. 10090908 1999
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 GeneticVariation disease UNIPROT Germline mutations of RET cause a dominantly inherited dysgenesis of the enteric nervous system known as Hirschsprung's disease (HSCR; aganglionosis megacolon). 10484767 1999
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 GeneticVariation disease UNIPROT An initial report linked HSCR1 in MEN 2A solely to the C618R and C620R RET mutations. 9384613 1998
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 GeneticVariation disease UNIPROT The approach of single-strand conformational polymorphism analysis established for all the 20 exons of the RET proto-oncogene, and previously used to screen for point mutations in Hirschsprung patients allowed us to identify seven additional mutations among 39 sporadic and familial cases of Hirschsprung disease (detection rate 18%). 9090527 1997
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 GeneticVariation disease UNIPROT We suggest that parental imprinting may play a role in the ethiology of HSCR caused by mutations in the RET protooncogene. 9259198 1997
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 GeneticVariation disease UNIPROT Our data indicate that RET and EDNRB mutations have a role in the aetiology of some sporadically occurring HSCR. 9094028 1997
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 GeneticVariation disease UNIPROT This distinctive feature of RET mutations associated with Hirschsprung's disease and of the RET mutations associated with thyroid cancer indicates a basic biological difference between the mutational events leading to the different phenotypes. 9043870 1996
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 GeneticVariation disease UNIPROT Our data suggest that: (i) the overall frequency of RET mutations in HSCR patients is low and therefore, other genetic and/or environmental determinants contribute to the majority of HSCR susceptibility, and (ii) at present, there is no obvious relationship between RET genotype and HSCR phenotype. 7633441 1995
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 GeneticVariation disease UNIPROT 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
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 GeneticVariation disease UNIPROT 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
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 Biomarker disease GENOMICS_ENGLAND 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
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 GeneticVariation disease UNIPROT 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
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 GeneticVariation disease UNIPROT 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
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 GeneticVariation disease UNIPROT Heterogeneity and low detection rate of RET mutations in Hirschsprung disease. 7704557 1994
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 GeneticVariation disease CLINVAR
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 SusceptibilityMutation disease CLINVAR
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 CausalMutation disease CLINVAR
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.600 Biomarker disease GENOMICS_ENGLAND