Annotation Detail

Information
Associated Genes
EDN1
Associated Variants
NOS3 c.-51-735C>T ( ENST00000297494.8, ENST00000461406.5 )
NOS3 c.-51-735C>T ( ENST00000297494.8, ENST00000461406.5 )
Associated Disease
Pain
Source Database
DisGeNET
Description
The association of endothelin 1 (ET-1) and endothelial constitutive nitric oxide synthase (ecNOS) gene polymorphisms (G5665T and T8002C, VNTR and T-786C respectively) with the occurrence of acute chest syndrome and painful vaso-occlusive crises was evaluated in homozygous SS children.
Pubmed
16956834
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.120814325616241
Year of publication
2006
Drugs