C9, complement C9, 735

N. diseases: 62; N. variants: 32
Disease: Age related macular degeneration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.420 GeneticVariation disease BEFREE In this study, we reveal five novel rare genetic variants (p.M45L, p.F62S, p.G126R, p.T170I and p.A529T) in C9 in AMD patients, and evaluate their functional effects in vitro together with the previously identified (p.R118W and p.P167S) C9 variants. 29767720 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.420 GeneticVariation disease BEFREE Rare variants in CFH, CFI, C9, and C3 contributed to an increased risk of developing AMD (odds ratio, 2.04; 95% CI, 1.47-2.82; P < .001). 27918759 2017
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.420 GeneticVariation disease GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.420 Biomarker disease CTD_human Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. 24036952 2013