Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 p.His402Tyr (p.H402Y), CFH p.His402Tyr (p.H402Y)
(
ENST00000695981.1,
ENST00000695984.1,
ENST00000359637.3,
ENST00000695976.1,
ENST00000367429.9,
ENST00000695970.1,
ENST00000695979.1,
ENST00000695969.1,
ENST00000695974.1,
ENST00000695971.1,
ENST00000695968.1,
ENST00000696030.1,
ENST00000696028.1,
ENST00000695987.1,
ENST00000695978.1,
ENST00000696029.1,
ENST00000696023.1,
ENST00000630130.2,
ENST00000696027.1 )
ENSG00000289697 p.His402Tyr (p.H402Y), CFH p.His402Tyr (p.H402Y) ( 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 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- Our findings indicate that CFH (rs1061170) polymorphism impacts significantly on retinal function in early AMD patients, and support the hypothesis that dysfunctional CFH might result in early retinal function loss due to a reduction in the immune antioxidant defense mechanism.
- Pubmed
- 22552255
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- 2012
Drugs