Annotation Detail

Information
Associated Genes
ARMS2
Associated Variants
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
C3 p.Arg102Gly (p.R102G) ( ENST00000245907.11, ENST00000695693.1 )
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
C3 p.Arg102Gly (p.R102G) ( ENST00000245907.11, ENST00000695693.1 )
Associated Disease
Geographic Atrophy
Source Database
DisGeNET
Description
Analyzing the currently largest dataset on GA lesion growth (N = 388), our findings suggest a significant and independent contribution of three factors on GA lesion growth including at least two genetic factors (ARMS2_rs10490924 [P < 0.00088] and C3_rs2230199 [P < 0.00015]) as well as one clinical component (presence of GA in the fellow eye [P < 0.00023]).
Pubmed
25962167
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00981551465660913
Year of publication
2015
Drugs