Annotation Detail

Information
Associated Genes
PARP1
Associated Variants
PARP1 p.Val762Ala (p.V762A) ( ENST00000366794.10, ENST00000677203.1 )
PARP1 p.Phe54Leu (p.F54L) ( ENST00000677203.1, ENST00000366794.10 )
PARP1 p.Val762Ala (p.V762A) ( ENST00000366794.10, ENST00000677203.1 )
PARP1 p.Phe54Leu (p.F54L) ( ENST00000366794.10, ENST00000677203.1 )
Associated Disease
Diabetic Polyneuropathies
Source Database
DisGeNET
Description
Leu54Phe and Val762Ala polymorphisms in the poly(ADP-ribose)polymerase-1 gene are associated with diabetic polyneuropathy in Russian type 1 diabetic patients.
Pubmed
18054108
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2008
Drugs