Annotation Detail
Information
- Associated Genes
- GPAA1
- Associated Variants
-
AGTR1 c.*86A>C
(
ENST00000349243.8,
ENST00000402260.2,
ENST00000404754.2,
ENST00000418473.7,
ENST00000461609.1,
ENST00000474935.5,
ENST00000475347.5,
ENST00000497524.5 )
AGTR1 c.*86A>C ( ENST00000349243.8, ENST00000402260.2, ENST00000404754.2, ENST00000418473.7, ENST00000461609.1, ENST00000474935.5, ENST00000475347.5, ENST00000497524.5 ) - Associated Disease
- Friedreich ataxia
- Source Database
- DisGeNET
- Description
- The AGTR1 polymorphism rs5186 appears to modify the FRDA cardiac phenotype independently of GAA1.
- Pubmed
- 21771600
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2011
Drugs