Annotation Detail
Information
- Associated Genes
- HTRA1
- Associated Variants
-
HTRA1 c.-625G>A
(
ENST00000648167.1 )
HTRA1 c.-625G>A ( ENST00000648167.1 ) - Associated Disease
- Confluent drusen
- Source Database
- DisGeNET
- Description
- In addition, rs11200638 was significantly associated with soft confluent drusen, which are strongly immunolabeled with HTRA1 antibody in an AMD eye with GA similar to wet AMD.
- Pubmed
- 17426452
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2007
Drugs