EDN3, endothelin 3, 1908

N. diseases: 107; N. variants: 16
Disease: Waardenburg Syndrome, Type 4b ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315384
rs74315384
Entrez Id: 1908
Gene Symbol: EDN3
EDN3
CUI: C2750457
Disease:
Waardenburg Syndrome, Type 4b 		0.800 GeneticVariation UNIPROT SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. 12189494 2002
dbSNP: rs74315384
rs74315384
Entrez Id: 1908
Gene Symbol: EDN3
EDN3
CUI: C2750457
Disease:
Waardenburg Syndrome, Type 4b 		0.800 GeneticVariation 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
dbSNP: rs74315384
rs74315384
Entrez Id: 1908
Gene Symbol: EDN3
EDN3
CUI: C2750457
Disease:
Waardenburg Syndrome, Type 4b 		0.800 GeneticVariation UNIPROT A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). 8630503 1996
dbSNP: rs74315384
rs74315384
Entrez Id: 1908
Gene Symbol: EDN3
EDN3
CUI: C2750457
Disease:
Waardenburg Syndrome, Type 4b 		T 0.800 CausalMutation CLINVAR