Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5979
Gene Symbol: RET
RET
0.700 GeneticVariation disease BEFREE Receptor rearranged during transfection (RET) gene variants are the most commonly recognized genetic associations with Hirschsprung disease. 30843358 2019
Entrez Id: 5979
Gene Symbol: RET
RET
0.700 GeneticVariation disease GWASCAT Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant. 30031151 2019
Entrez Id: 5979
Gene Symbol: RET
RET
0.700 GeneticVariation disease BEFREE Disease risk of HSCR is increased by the combination of specific RET and NRG1 susceptibility variants. 30502294 2019
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
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 Our findings expand the clinical and molecular spectrum of RET variants in HSCR and reveal a high frequency of RET DNVs in the Chinese population. 31666091 2019
Entrez Id: 5979
Gene Symbol: RET
RET
0.700 GeneticVariation disease BEFREE The authors attempted prenatal diagnosis of Hirschsprung disease utilizing an amniocentesis sample obtained for advanced maternal age in a family with a known deleterious RET mutation, manifested in the father (long-segment Hirschsprung disease) and older daughter (total colonic aganglionosis). 31609069 2019
Entrez Id: 5979
Gene Symbol: RET
RET
0.700 Biomarker disease BEFREE Conversely RET involvement in HSCR does not seem to rely on the presence of CNVs while, interestingly, several gains and losses did co-occur with another RET defect, thus confirming that more than one predisposing event is necessary for HSCR to develop. 31767031 2019
Entrez Id: 5979
Gene Symbol: RET
RET
0.700 GeneticVariation disease BEFREE In a HSCR family, the father passed on a pathogenic RET frameshift to two daughters; however, only one developed HSCR. 31240788 2019
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 As expected, variants in or near RET showed the strongest overall association with Hirschsprung disease and the most statistically significant association was observed when using a recessive genetic model (rs2435357, NC_000010.10:g.43582056T > C; genotype TT, OR = 17.31, P = 1.462 × 10<sup>-21</sup>). 30031151 2019
Entrez Id: 5979
Gene Symbol: RET
RET
0.700 GeneticVariation disease BEFREE When altered, RET mutations influence disease in a variety of organ systems from Hirschsprung's disease and multiple endocrine neoplasia 2 (MEN2) to papillary thyroid carcinoma (PTC) and non-small cell lung cancer (NSCLC). 31715421 2019
Entrez Id: 5979
Gene Symbol: RET
RET
0.700 GeneticVariation disease BEFREE Medical records and laboratory reports of carriers were reviewed for signs of MEN2A at latest follow-up (medullary thyroid carcinoma, primary hyperparathyroidism, pheochromocytoma, cutaneous lichen amyloidosis, or Hirschsprung's disease). 30644554 2019
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
0.700 AlteredExpression disease BEFREE The increased expression of EDNRB induced by decreased Gli1 expression may represent a novel mechanism in HSCR. 29484400 2018
Entrez Id: 5979
Gene Symbol: RET
RET
0.700 GeneticVariation disease BEFREE Although the picture is complex, recent associations between specific RET proto-oncogene variations have been shown to be significant in Down syndrome patients with Hirschsprung disease, as they probably interfere with vital RET functions in the development of the autonomic and enteric nervous systems, increasing the risk of disturbed normal function. 30218169 2018
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
0.700 GeneticVariation disease BEFREE Our findings suggested that autosomal recessive mutation in EDNRB may underlie a part of WS1 with the current diagnostic criteria, and supported that Hirschsprung's disease is a multifactorial genetic disease which requires additional factors. 28502583 2018
Entrez Id: 5979
Gene Symbol: RET
RET
0.700 GeneticVariation disease BEFREE Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease. 29601828 2018
Entrez Id: 5979
Gene Symbol: RET
RET
0.700 GeneticVariation disease BEFREE We identified a new RET gene mutation causing HSCR and successfully established a human iPSC line from an HSCR patient carrying this novel RET mutation, which could be useful in pathogenesis studies of HSCR. 29965875 2018
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
0.700 GeneticVariation disease BEFREE In the present study, we demonstrated that SEMA3A expression is increased in the EDNRB-/- HD model on P2, suggesting that SEMA3A may interfere with ENCC migration, resulting in an absence of enteric neurons. 29224790 2018
Entrez Id: 5979
Gene Symbol: RET
RET
0.700 GeneticVariation disease BEFREE The most common known underlying genetic alterations are in the RET gene but HSCR can also be caused by mutations in other genes that are responsible for the maturation and migration of intestinal neural cells. 30056070 2018
Entrez Id: 5979
Gene Symbol: RET
RET
0.700 GeneticVariation disease BEFREE Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus. 29379196 2018
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
0.700 AlteredExpression disease BEFREE The clinical association between Trisomy 21 (Down syndrome) and aganglionosis (Hirschsprung disease; DS-HSCR) is well-established, being of the order of 5% and remains the most common congenital association with Hirschsprung disease. 30218169 2018
Entrez Id: 5979
Gene Symbol: RET
RET
0.700 GeneticVariation disease BEFREE While the association of this variant with MTC or MEN2A has been never reported, it has been described in association with Hirschsprung's disease. 30072953 2018
Entrez Id: 5979
Gene Symbol: RET
RET
0.700 Biomarker disease BEFREE Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung Disease. 30693022 2018
Entrez Id: 5979
Gene Symbol: RET
RET
0.700 GeneticVariation disease BEFREE Somatic mutations of the RET gene are underrecognized in HSCR. 29261189 2018
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
0.700 GeneticVariation disease BEFREE Future studies investigating the disease-associated mutations in the already identified HSCR genes should provide insights into the genetic basis of HSCR in twins. 28601901 2017