Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration. 25880396 2015
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. 24036949 2014
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 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)
0.800 SusceptibilityMutation disease CLINVAR A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. 22019782 2012
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR Complement factor H binds malondialdehyde epitopes and protects from oxidative stress. 21979047 2012
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 GeneticVariation disease UNIPROT A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. 22019782 2012
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR Complement regulation at necrotic cell lesions is impaired by the age-related macular degeneration-associated factor-H His402 risk variant. 21930971 2011
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR Impaired binding of the age-related macular degeneration-associated complement factor H 402H allotype to Bruch's membrane in human retina. 20660596 2010
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR Multilocus analysis of age-related macular degeneration. 19259132 2010
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR Structure of the N-terminal region of complement factor H and conformational implications of disease-linked sequence variations. 18252712 2008
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR Basal laminar drusen caused by compound heterozygous variants in the CFH gene. 18252232 2008
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR Population-based study of early age-related macular degeneration: role of the complement factor H Y402H polymorphism in bilateral but not unilateral disease. 17198853 2007
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR Association of complement factor H Y402H gene polymorphism with different subtypes of exudative age-related macular degeneration. 17398321 2007
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration. 17241667 2007
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese. 16710702 2007
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 Biomarker disease MGD Complement factor H deficiency in aged mice causes retinal abnormalities and visual dysfunction. 17921253 2007
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR Structure shows that a glycosaminoglycan and protein recognition site in factor H is perturbed by age-related macular degeneration-linked single nucleotide polymorphism. 17360715 2007
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR Complement factor H polymorphism p.Tyr402His and cuticular Drusen. 17210858 2007
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR The factor H variant associated with age-related macular degeneration (His-384) and the non-disease-associated form bind differentially to C-reactive protein, fibromodulin, DNA, and necrotic cells. 17293598 2007
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. 17018561 2007
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR Individuals homozygous for the age-related macular degeneration risk-conferring variant of complement factor H have elevated levels of CRP in the choroid. 17079491 2007
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. 16936732 2006
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). 16612335 2006
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration. 16816528 2006
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 SusceptibilityMutation disease CLINVAR His-384 allotypic variant of factor H associated with age-related macular degeneration has different heparin binding properties from the non-disease-associated form. 16787919 2006