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
lupus nephritis
Source Database
DisGeNET
Description
A meta-analysis was conducted on the associations between the 4b/a, G894T, and C786T polymorphisms of eNOS and SLE and lupus nephritis (LN) (when available) using (1) the allele contrast, (2) the recessive, (3) the dominant, and (4) the additive models.
Pubmed
22105628
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00318135759484294
Year of publication
2012
Drugs