Annotation Detail

Information
Associated Genes
PON1
Associated Variants
PON1 MUTATION
PON1 MUTATION
GLO1 p.Glu111Ala (p.E111A) ( ENST00000373365.5 )
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 )
PON1 p.Leu55Val (p.L55V) ( ENST00000222381.8 )
PON1 p.Leu55= (p.L55=) ( ENST00000222381.8 )
PON1 p.Leu55? (p.L55?) ( ENST00000222381.8 )
PON1 p.Leu55Met (p.L55M) ( ENST00000222381.8 )
GLO1 p.Glu111Ala (p.E111A) ( ENST00000373365.5 )
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 )
PON1 p.Leu55Val (p.L55V) ( ENST00000222381.8 )
PON1 p.Leu55= (p.L55=) ( ENST00000222381.8 )
PON1 p.Leu55? (p.L55?) ( ENST00000222381.8 )
PON1 p.Leu55Met (p.L55M) ( ENST00000222381.8 )
Associated Disease
multiple sclerosis
Source Database
DisGeNET
Description
Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms: susceptibility factors of multiple sclerosis?
Pubmed
17463067
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00881562356007275
Year of publication
2007
Drugs