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
0.190 Biomarker disease BEFREE We identified four previously reported susceptibility loci showing genome-wide significant association with AMD progression: ARMS2-HTRA1 (P = 8.1 × 10-43), CFH (P = 3.5 × 10-37), C2-CFB-SKIV2L (P = 8.1 × 10-10) and C3 (P = 1.2 × 10-9). 29346644 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.190 GeneticVariation disease GWASCAT Genome-wide analysis of disease progression in age-related macular degeneration. 29346644 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.190 Biomarker disease BEFREE Further investigations are needed to validate the association and confirm the role of SKIV2L in AMD. 27484132 2017
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.190 GeneticVariation disease BEFREE Haplotype and conditional analysis of the C2-CFB-SKIV2L locus showed a low-frequency variant (R74H) in CFB would be individually associated with AMD susceptibility independent of the GWAS associated SNP. 28173125 2016
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.190 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
0.190 GeneticVariation disease BEFREE Among the SNPs, TNXB rs12153855 and FKBPL rs9391734 conferred an increased susceptibility to neovascular AMD (P = 2.8 × 10(-4) and 0.001, OR = 1.80 and 1.76, respectively), while SKIV2L exerted a protective effect on neovascular AMD (P = 2.2 × 10(-4), OR = 0.49). 26861912 2016
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.190 GeneticVariation disease BEFREE Genotype distribution of rs1061170 (CFH), rs429608 (SKIV2L), rs2679798 (MYRIP) and both rs11549465 and rs11549467 (HIF1A) in AMD cases and healthy controls; association between genotypes and AMD subtypes. 24995509 2015
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.190 GeneticVariation disease BEFREE A SKIV2L variant was associated with protection against exudative AMD regardless of subtypes in the Japanese population. 24865191 2014
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.190 GeneticVariation disease GWASDB Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. 23577725 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.190 GeneticVariation disease GWASCAT Seven new loci associated with age-related macular degeneration. 23455636 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.190 GeneticVariation disease GWASDB Seven new loci associated with age-related macular degeneration. 23455636 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.190 GeneticVariation disease BEFREE The association of SKIV2L rs429608 with neovascular AMD remained significant after adjusting for CFH rs800292 and HTRA1 rs11200638. 23260260 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.190 GeneticVariation disease GWASCAT Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. 23577725 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.190 GeneticVariation disease GWASDB Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. 22694956 2012
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.190 GeneticVariation disease GWASDB Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. 21909106 2011
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.190 GeneticVariation disease GWASCAT Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. 20385819 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.190 GeneticVariation disease GWASCAT Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. 20861866 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.190 Biomarker disease BEFREE Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. 20861866 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.190 GeneticVariation disease GWASDB Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. 20861866 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.190 GeneticVariation disease GWASDB Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. 20385819 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.190 GeneticVariation disease BEFREE We performed an association analysis between PCV and polymorphisms across the C2-CFB-RDBP-SKIV2L region in a Japanese population, genotyping 13 single nucleotide polymorphisms (SNPs) spanning this region, including rs9332739 (E318D), rs547154, rs4151667 (L9H), and rs641153 (rs641153" genes_norm="629">R32Q) that are known to be associated with age-related macular degeneration (AMD). 19556007 2009