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: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 Biomarker disease CLINGEN Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea. 28263850 2017
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 Biomarker disease CLINGEN Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea. 28263850 2017
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 GeneticVariation disease CLINVAR Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China. 27018795 2016
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 Biomarker disease CLINGEN Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy. 22876130 2012
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 GeneticVariation disease CLINVAR Review and update of mutations causing Waardenburg syndrome. 20127975 2010
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 Biomarker disease GENOMICS_ENGLAND Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV. 19764030 2009
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 Biomarker disease CLINGEN Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV. 19764030 2009
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 Biomarker disease CLINGEN A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3. 17516928 2007
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 Biomarker disease CLINGEN A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3. 17516928 2007
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 Biomarker disease MGD A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3. 17516928 2007
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 GeneticVariation disease UNIPROT SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. 12189494 2002
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 GeneticVariation disease UNIPROT A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? 11303518 2001
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 Biomarker disease CLINGEN A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? 11303518 2001
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 Biomarker disease CLINGEN A heterozygous frameshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease. 10231870 1999
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 Biomarker disease GENOMICS_ENGLAND Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. 9359047 1998
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 Biomarker disease GENOMICS_ENGLAND Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). 8630502 1996
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 Biomarker disease CLINGEN Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). 8630502 1996
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 GeneticVariation disease UNIPROT A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). 8630503 1996
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 Biomarker disease CLINGEN Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. 8001160 1994
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 Biomarker disease MGD Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. 8001160 1994
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 CausalMutation disease CLINVAR
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
0.900 Biomarker disease CTD_human
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 GeneticVariation disease BEFREE Mice with deletions of the endothelin-3 gene (lethal spotted mice, ls/ls) develop congenital aganglionosis. 21320883 2011
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 GeneticVariation disease BEFREE In addition, based on the haplotype distribution, EDN3 might be considered as a common susceptibility gene for sporadic Hirschsprung disease in a low-penetrance fashion. 20009762 2010
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 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