Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 p.Val62Ile (p.V62I), CFH p.Val62Ile (p.V62I)
(
ENST00000695968.1,
ENST00000696030.1,
ENST00000696028.1,
ENST00000630130.2,
ENST00000696023.1,
ENST00000696029.1,
ENST00000695978.1,
ENST00000695987.1,
ENST00000696027.1,
ENST00000695981.1,
ENST00000359637.3,
ENST00000695984.1,
ENST00000695970.1,
ENST00000367429.9,
ENST00000695976.1,
ENST00000695969.1,
ENST00000695974.1,
ENST00000695971.1,
ENST00000695979.1 )
ENSG00000244255 p.Arg652= (p.R652=), CFB p.Arg150= (p.R150=) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
ENSG00000289697 p.Val62Ile (p.V62I), CFH p.Val62Ile (p.V62I) ( ENST00000359637.3, ENST00000367429.9, ENST00000630130.2, ENST00000695968.1, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695978.1, ENST00000695979.1, ENST00000695981.1, ENST00000695984.1, ENST00000695987.1, ENST00000696023.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1, ENST00000696030.1 )
ENSG00000244255 p.Arg652= (p.R652=), CFB p.Arg150= (p.R150=) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 ) - Associated Disease
- diabetic retinopathy
- Source Database
- DisGeNET
- Description
- CFH-rs800292 and CFB-rs1048709 are associated with the presence of DR, which strengthens the concept that complement system plays an important role in the pathogenesis of DR.
- Pubmed
- 23864767
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2013
Drugs