Annotation Detail

Information
Associated Genes
QTRT1
Associated Variants
NOS3 c.-52+1009A>C ( ENST00000297494.8, ENST00000461406.5 )
NOS3 c.-52+1009A>T ( ENST00000297494.8, ENST00000461406.5 )
NOS3 c.-51-898G>A ( ENST00000297494.8, ENST00000461406.5 )
NOS3 c.-51-762C>T ( ENST00000297494.8, ENST00000461406.5 )
NOS3 c.-52+1009A>C ( ENST00000297494.8, ENST00000461406.5 )
NOS3 c.-52+1009A>T ( ENST00000297494.8, ENST00000461406.5 )
NOS3 c.-51-898G>A ( ENST00000297494.8, ENST00000461406.5 )
NOS3 c.-51-762C>T ( ENST00000297494.8, ENST00000461406.5 )
Associated Disease
Hypoxic-Ischemic Encephalopathy
Source Database
DisGeNET
Description
The TGT haplotype of rs1800783, rs1800779, and rs2070744 polymorphisms was associated with hypoxic-ischemic encephalopathy.
Pubmed
25140814
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2014
Drugs