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
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
0.600 Biomarker disease GENOMICS_ENGLAND Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV. 19764030 2009
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
0.600 GeneticVariation disease UNIPROT Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. 9359047 1998
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
0.600 Biomarker disease GENOMICS_ENGLAND Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. 9359047 1998
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
0.600 SusceptibilityMutation disease CLINVAR