Annotation Detail
Information
- Associated Genes
- MOK
- Associated Variants
-
MOK MUTATION
MOK MUTATION
GLO1 p.Glu111Ala (p.E111A) ( ENST00000373365.5 )
GLO1 p.Glu111Ala (p.E111A) ( ENST00000373365.5 ) - Associated Disease
- Huntington disease
- Source Database
- DisGeNET
- Description
- The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis (HD) patients and some RAGE gene polymorphisms are implicated in various pathological states.
- Pubmed
- 20185929
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2010
Drugs