Annotation Detail
Information
- Associated Genes
- CFB
- Associated Variants
-
ENSG00000244255 p.Arg534Gln (p.R534Q), CFB p.Arg32Gln (p.R32Q)
(
ENST00000425368.7,
ENST00000483004.2,
ENST00000698628.1 )
ENSG00000244255 p.Arg534Leu (p.R534L), CFB p.Arg32Leu (p.R32L) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
ENSG00000244255 p.Arg534Gln (p.R534Q), CFB p.Arg32Gln (p.R32Q) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
ENSG00000244255 p.Arg534Leu (p.R534L), CFB p.Arg32Leu (p.R32L) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- [implicate different biologic pathways than previously reported and provide new avenues for prevention and treatment of AMD.]
- Pubmed
- 20385826
- Original source reporting the Gene Disease association
- GAD
- DisGENET score for the Gene Disease association
- 0.319044594910295
- Year of publication
- 2010
Drugs