Annotation Detail
Information
- Associated Genes
- NANOS3
- Associated Variants
-
ENSG00000264813 c.1969+3702T>C
ENSG00000264813 c.*1344-903C>G
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
ENSG00000264813 c.1969+3702T>C
ENSG00000264813 c.*1344-903C>G
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 ) - Associated Disease
- High altitude pulmonary edema
- Source Database
- DisGeNET
- Description
- In conclusion, ACE rs8066114 and rs4461142 and NOS3 rs1799983 (G894T) polymorphisms may be associated with increased HAPE risk in Asians.
- Pubmed
- 23603420
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2013
Drugs