Annotation Detail

Information
Associated Genes
VEGFA
Associated Variants
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
HTRA1 c.-625G>A ( ENST00000648167.1 )
VEGFA c.*237C>T ( ENST00000230480.10, ENST00000372064.9, ENST00000372067.8, ENST00000372077.8, ENST00000425836.9, ENST00000520948.5, ENST00000523950.5, ENST00000672860.3 )
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
HTRA1 c.-625G>A ( ENST00000648167.1 )
VEGFA c.*237C>T ( ENST00000230480.10, ENST00000372064.9, ENST00000372067.8, ENST00000372077.8, ENST00000425836.9, ENST00000520948.5, ENST00000523950.5, ENST00000672860.3 )
Associated Disease
age related macular degeneration
Source Database
DisGeNET
Description
In this Korean neovascular AMD cohort, treatment outcome after anti-VEGF was found to differ by the genotypes of VEGFA rs3025039, ARMS2 rs10490924, and HTRA1 rs11200638.
Pubmed
25558172
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.18493687282048
Year of publication
2014
Drugs