Annotation Detail

Information
Associated Genes
NOS3
Associated Variants
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
Associated Disease
systemic scleroderma
Source Database
DisGeNET
Description
Our results indicate that eNOS (G894T) and p22(phox) (C242T) polymorphisms do not influence susceptibility to and the course of systemic sclerosis.
Pubmed
15530459
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0165454796318243
Year of publication
2004
Drugs