CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Disease: Blindness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0456909
Disease: Blindness
Blindness 		0.100 GeneticVariation phenotype BEFREE Variants of the CFH gene, encoding complement factor H (CFH), show strong association with age-related macular degeneration (AMD), a major cause of blindness. 28228282 2017
CUI: C0456909
Disease: Blindness
Blindness 		0.100 Biomarker phenotype BEFREE Complement factor H (CFH) is a central regulator of the complement system and has been implicated in the etiology of age-related macular degeneration (AMD), a leading cause of blindness in the elderly. 23029250 2012
CUI: C0456909
Disease: Blindness
Blindness 		0.100 GeneticVariation phenotype BEFREE Age-related macular degeneration is a leading form of blindness in Western countries and is associated with a common SNP (rs 1061170/Y402H) in the Factor H gene, which encodes the two complement inhibitors Factor H and FHL1. 21930971 2011
CUI: C0456909
Disease: Blindness
Blindness 		0.100 GeneticVariation phenotype BEFREE Age related macular degeneration (AMD) is a common form of blindness in the western world and genetic variations of several complement genes, including the complement regulator Factor H, the central complement component C3, Factor B, C2, and also Factor I confer a risk for the disease. 20711704 2010
CUI: C0456909
Disease: Blindness
Blindness 		0.100 GeneticVariation phenotype BEFREE The Y402H polymorphism within the seventh short consensus repeat of FH was recently shown to be associated with age-related macular degeneration, the most common cause of irreversible blindness in the Western world. 17339482 2007
CUI: C0456909
Disease: Blindness
Blindness 		0.100 GeneticVariation phenotype BEFREE The common variant in the human complement Factor H gene (CFH), with Tyr402His, is linked to age-related macular degeneration (AMD), a prevalent disorder leading to visual impairment and irreversible blindness in elderly patients. 17399790 2007
CUI: C0456909
Disease: Blindness
Blindness 		0.100 GeneticVariation phenotype BEFREE We tested the hypothesis that modifiable lifestyle factors alter the genetic susceptibility associated with a common coding variant in the complement factor H (CFH) gene, Y402H, for the leading cause of blindness among the elderly, age-related macular degeneration (AMD). 16816528 2006
CUI: C0456909
Disease: Blindness
Blindness 		0.100 GeneticVariation phenotype BEFREE Age-related macular degeneration (AMD) is the leading cause of blindness in the developed world and complement factor H (CFH) polymorphism has been found to associated with the AMD. 16905558 2006
CUI: C0456909
Disease: Blindness
Blindness 		0.100 GeneticVariation phenotype BEFREE A polymorphism in complement factor H has recently been associated with age-related macular degeneration (AMD), the leading cause of blindness in the elderly. 16787919 2006
CUI: C0456909
Disease: Blindness
Blindness 		0.100 GeneticVariation phenotype BEFREE Using a large sample of cases and controls from a single center, we show that a T-->C substitution in exon 9 (Y402H) of the complement factor H gene is strongly associated with susceptibility to age-related macular degeneration, the most common cause of blindness in the elderly. 15895326 2005