Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.900 CausalMutation disease CLINVAR Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration. 25814826 2015
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.900 CausalMutation disease CLINVAR Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration. 24498017 2014
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.900 CausalMutation disease CLINVAR Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. 24036949 2013
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.900 Biomarker disease MGD Systemic administration of Abeta mAb reduces retinal deposition of Abeta and activated complement C3 in age-related macular degeneration mouse model. 23799019 2013
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.900 CausalMutation disease CLINVAR A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. 22019782 2011
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.900 GeneticVariation disease UNIPROT A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. 22019782 2011
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.900 Biomarker disease MGD Complement factor H deficiency in aged mice causes retinal abnormalities and visual dysfunction. 17921253 2007
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.900 CausalMutation disease CLINVAR Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome. 12697737 2003
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.900 SusceptibilityMutation disease CLINVAR
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.900 Biomarker disease GENOMICS_ENGLAND
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.900 Biomarker disease CTD_human