EDN3, endothelin 3, 1908

N. diseases: 107; N. variants: 16
Disease: Waardenburg Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.540 Biomarker disease BEFREE To date, mutations of PAX3, SOX10, MITF, EDNRB, EDN3 and SNAI2 have been implicated in the pathogenesis of WS. 31812001 2020
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.540 Biomarker disease GENOMICS_ENGLAND Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV. 19764030 2009
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.540 GermlineCausalMutation disease ORPHANET Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV. 19764030 2009
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.540 GeneticVariation disease BEFREE Mutations in the endothelin-3 (EDN3), endothelin-B receptor (EDNRB), and Sox10 genes have been identified as causative for WS type IV. 10528251 1999
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.540 GeneticVariation disease BEFREE Homozygosity for EDN3 mutations has been previously shown to cause the Shah-Waardenburg syndrome, a combination of HSCR with features of the Waardenburg syndrome. 9359047 1998
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.540 GeneticVariation disease BEFREE Novel EDNRB mutations have been detected in non-syndromic HD patients with heterozygous forms, and homozygous mutations of the EDNRB or the EDN3 genes have been reported in HD patients associated with type 2 Waardenburg syndrome. 9035203 1997
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.540 Biomarker disease GENOMICS_ENGLAND Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). 8630502 1996