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
High altitude pulmonary edema
Source Database
DisGeNET
Description
Meta-analysis showed overall association of NOS3 G894T SNP with HAPE risk under the allele contrast and dominant genetic models, which remained significant for Asians.
Pubmed
23603420
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00663415706176619
Year of publication
2013
Drugs