Annotation Detail
Information
- Associated Genes
- ARMS2
- 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
- Exudative age-related macular degeneration
- Source Database
- DisGeNET
- Description
- The purpose of this study was to determine the pharmacogenetic effects of complement factor H (CFH) Y402H, LOC387715 and high-temperature requirement factor A1 (HTRA1) genotypes on the treatment of exudative age-related macular degeneration (AMD) by intravitreal bevacizumab injection in a Korean population.
- Pubmed
- 23204795
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.127600372418248
- Year of publication
- 2012
Drugs