Annotation Detail

Information
Associated Genes
GLO1
Associated Variants
GLO1 p.Glu111Ala (p.E111A) ( ENST00000373365.5 )
GLO1 p.Glu111Ala (p.E111A) ( ENST00000373365.5 )
Associated Disease
Atrial Septal Defects
Source Database
DisGeNET
Description
We previously found the rs4746 A332 (Glu111) allele of the GLO1 gene, which encodes for glyoxalase I, associated with unaffected sibling status in families with one or more children affected by Autism Spectrum Disorder (ASD).
Pubmed
25201284
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2014
Drugs