EDN3, endothelin 3, 1908

N. diseases: 107; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic
0.520 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
0.520 Biomarker disease GENOMICS_ENGLAND Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV. 19764030 2009
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic
0.520 GeneticVariation disease BEFREE However, the similarity between the distal colonic aganglionosis in Hirschsprung disease and that due to EDN3 or EDNRB mutations led to the hypothesis that levels of expression of these genes might be affected in the absence of mutation, thus causing the Hirschsprung disease phenotype. 10792313 2000
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic
0.520 Biomarker disease CTD_human Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. 9359047 1998
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic
0.520 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
0.520 Biomarker disease CTD_human The lethal-spotted mouse which has pigment abnormalities, but also colonic aganglionosis, carries a mutation in the gene coding for endothelin 3 (Edn3), the ligand for the receptor protein encoded by EDNRB. 8630503 1996
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic
0.520 Biomarker disease CTD_human Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). 8630502 1996