Annotation Detail
Information
- Associated Genes
- AGXT
- Associated Variants
-
AGXT p.Pro11His (p.P11H)
(
ENST00000307503.4 )
AGXT p.Pro11Arg (p.P11R) ( ENST00000307503.4 )
AGXT p.Pro11Leu (p.P11L) ( ENST00000307503.4 )
AGXT p.Pro11His (p.P11H) ( ENST00000307503.4 )
AGXT p.Pro11Arg (p.P11R) ( ENST00000307503.4 )
AGXT p.Pro11Leu (p.P11L) ( ENST00000307503.4 ) - Associated Disease
- Kidney Calculi
- Source Database
- DisGeNET
- Description
- The AGT Pro11Leu polymorphism in the alanine:glyoxylate aminotransferase (AGT) enzyme has been suggested as possibly playing a role in the pathogenesis of idiopathic calcium oxalate kidney stones.
- Pubmed
- 24344980
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00162865123248182
- Year of publication
- 2014
Drugs