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: rs745795470
rs745795470
Entrez Id: 1908
Gene Symbol: EDN3
EDN3
CUI: C2750457
Disease:
Waardenburg Syndrome, Type 4b 		A 0.700 GeneticVariation CLINVAR Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China. 27018795 2016
dbSNP: rs745795470
rs745795470
Entrez Id: 1908
Gene Symbol: EDN3
EDN3
CUI: C2750457
Disease:
Waardenburg Syndrome, Type 4b 		A 0.700 GeneticVariation CLINVAR Review and update of mutations causing Waardenburg syndrome. 20127975 2010
dbSNP: rs745795470
rs745795470
Entrez Id: 1908
Gene Symbol: EDN3
EDN3
CUI: C2750457
Disease:
Waardenburg Syndrome, Type 4b 		A 0.700 CausalMutation CLINVAR