Annotation Detail
Information
- Associated Genes
- NOS3
- Associated Variants
-
ICAM1 p.Gly241Arg (p.G241R)
(
ENST00000264832.8,
ENST00000423829.2 )
ADD1 p.Gly460Trp (p.G460W) ( ENST00000264758.11, ENST00000398129.5, ENST00000683351.1 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
ICAM1 p.Gly241Arg (p.G241R) ( ENST00000264832.8, ENST00000423829.2 )
ADD1 p.Gly460Trp (p.G460W) ( ENST00000264758.11, ENST00000398129.5, ENST00000683351.1 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 ) - Associated Disease
- gastroschisis
- Source Database
- DisGeNET
- Description
- In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).
- Pubmed
- 17051589
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00290991572276264
- Year of publication
- 2006
Drugs