CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Disease: Choroidal Neovascularization ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0600518
Disease: Choroidal Neovascularization
Choroidal Neovascularization 		0.040 GeneticVariation phenotype LHGDN Myopic choroidal neovascularization genetics. 18762075 2008
CUI: C0600518
Disease: Choroidal Neovascularization
Choroidal Neovascularization 		0.040 Biomarker phenotype LHGDN We genotyped three SNPs, rs1061170 (exon 9, CFH), rs11200638 (HTRA1 promoter, -512 bp), and rs10490924 (6.6 kb upstream of HTRA1 in LOC387715/ARMS2) in 333 cases with advanced AMD (choroidal neovascularization [CNV] and geographic atrophy) and 171 age-matched examined controls. 18682806 2008
CUI: C0600518
Disease: Choroidal Neovascularization
Choroidal Neovascularization 		0.040 GeneticVariation phenotype LHGDN This attempt at a genotypic-angiographic correlation in an exudative AMD sample suggests an association between occult or MC CNV and the CFH polymorphism and between classic and PC CNV and the HTRA1 polymorphism. 18362109 2008
CUI: C0600518
Disease: Choroidal Neovascularization
Choroidal Neovascularization 		0.040 GeneticVariation phenotype LHGDN The CFH Y402H variant is strongly associated with both GA and CNV in the U.K. population. 16431947 2006