Annotation Detail
Information
- Associated Genes
- GLO1
- Associated Variants
-
GLO1 MUTATION
GLO1 MUTATION
GLO1 p.Glu111Ala (p.E111A) ( ENST00000373365.5 )
GLO1 p.Glu111Ala (p.E111A) ( ENST00000373365.5 ) - Associated Disease
- autistic disorder
- Source Database
- DisGeNET
- Description
- Glyoxalase I polymorphism rs2736654 causing the Ala111Glu substitution modulates enzyme activity--implications for autism.
- Pubmed
- 21491613
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.126362715189686
- Year of publication
- 2011
Drugs