Annotation Detail
Information
- Associated Genes
- CD38
- Associated Variants
-
CD38 c.233+183C>G
(
ENST00000226279.8 )
CD38 c.233+183C>G ( ENST00000226279.8 ) - Associated Disease
- Atrial Septal Defects
- Source Database
- DisGeNET
- Description
- In addition, analysis of the role of genetic polymorphisms in the dynamics of the molecule revealed that the genotype of a single-nucleotide polymorphism (rs6449182; C>G variation) in the CpG island of intron 1, harboring the retinoic-acid response element, exerts differential roles in CD38 expression in ASD and in parental LBC.
- Pubmed
- 21528155
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00162865123248182
- Year of publication
- 2011
Drugs