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 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 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 CLINVAR Review and update of mutations causing Waardenburg syndrome. 20127975 2010
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 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: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE Here, we describe a mutation of the human gene for endothelin 3 (EDN3), homozygously present in a patient with a combined Waardenburg syndrome type 2 (WS2) and HSCR phenotype (Shah-Waardenburg syndrome). 8630503 1996
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. 9359047 1998
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE A heterozygous frameshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease. 10231870 1999
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 Four different genes have been implicated in the pathogenesis of Hirschsprung disease: the RET tyrosine kinase receptor gene; one of its ligands, the glial cell line-derived neurotrophic factor (GDNF) gene; the endothelin receptor B (EDNRB) gene; and its ligand, endothelin-3 (EDN3). 9760196 1998
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
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE In the absence of mutation, EDN3 is downregulated in short-segment Hirschsprung disease, suggesting that this may be a common step leading to aganglionosis. 10792313 2000
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease LHGDN The mutations of EDNRB gene and EDN-3 gene are found in the short-segment HD of sporadic Hirschsprung's disease in Chinese population, which suggests that the EDNRB gene and EDN-3 gene play important roles in the pathogenesis of HD. 14669347 2003
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE Recently, three susceptibility genes have been identified in HSCR, namely the RET protooncogene, the endothelin B (ETB) receptor gene (EDNRB), and the endothelin-3 (ET-3) gene (EDN3). 9556633 1998
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease LHGDN Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in 80 patients with Hirschsprung disease (using multiplex ligation-dependent probe amplification). 19183406 2009
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.600 GeneticVariation disease ORPHANET Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. 8696331 1996
CUI: C3150975
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4 		0.600 GeneticVariation disease UNIPROT Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. 9359047 1998
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		0.560 GeneticVariation disease BEFREE Here, we describe a mutation of the human gene for endothelin 3 (EDN3), homozygously present in a patient with a combined Waardenburg syndrome type 2 (WS2) and HSCR phenotype (Shah-Waardenburg syndrome). 8630503 1996
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		0.560 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: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		0.560 GeneticVariation disease BEFREE Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). 8630502 1996
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		0.560 GeneticVariation disease BEFREE Type IV WS (Shah-Waardenburg syndrome with Hirschsprung disease) can be caused by mutations in the genes for endothelin-3 or one of its receptors, EDNRB. 9279758 1997
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		0.560 GeneticVariation disease BEFREE The WS4 phenotype can result from mutations in the endothelin-B receptor gene (EDNRB), in the gene for its ligand, endothelin-3 (EDN3), or in the SOX10 gene. 10942418 2000
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		0.560 GeneticVariation disease BEFREE In addition, the EDNRB, EDN3 and SOX10 genes were sequenced in order to identify the pathogenic mutation responsible for the WS4 observed in these patients. 21531202 2011
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