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: rs868107957
rs868107957
Entrez Id: 1908
Gene Symbol: EDN3
EDN3
CUI: C0019569
Disease:
Hirschsprung Disease 		0.010 GeneticVariation BEFREE The properties of three mutant human endothelin B receptor (hETB) (G57S, R319W and P383L) in isolated HSCR were analyzed. 11471546 2001