EDN3, endothelin 3, 1908

N. diseases: 107; N. variants: 16
Disease: Hirschsprung Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs372958987
rs372958987
Entrez Id: 1908
Gene Symbol: EDN3
EDN3
CUI: C0019569
Disease:
Hirschsprung Disease 		0.010 GeneticVariation BEFREE Therefore, we conclude that S390R and C109R mutations could cause HSCR but that N104I mutation might be polymorphous. 9556633 1998