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
0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE Age-related macular degeneration (AMD), a complex multigenic disorder and the most common cause of vision loss in the elderly, is associated with polymorphisms in the LOC387715/ARMS2 and HTRA1 genes on 10q26. 18535016 2008
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE AMD donors carrying the ARMS2 and HTRA1 risk alleles were the most likely to exhibit elevated CEP markers. 19202148 2009
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE AMD donors carrying the ARMS2 and HTRA1 risk alleles were the most likely to exhibit elevated CEP markers. 20238042 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE Age-related macular degeneration-associated silent polymorphisms in HtrA1 impair its ability to antagonize insulin-like growth factor 1. 23478260 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease LHGDN HTRA1 polymorphism in dry and wet age-related macular degeneration. 18301036 2008
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease LHGDN HtrA1 (G/A) SNP was successfully genotyped in 52 AMD cases and 13 non-AMD subjects. 18427598 2007
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE HTRA1 rs11200638 G→A polymorphism and LOC387715/ARMS2 rs10490924 G→T polymorphism play important roles in AMD. 21031019 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE HTRA1 gene polymorphism may influence patient response to treatment with intravitreal ranibizumab for neovascular AMD. 24080590 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE High-temperature requirement A serine peptidase 1 (HTRA1) and age-related maculopathy susceptibility 2 (ARMS2) are two genes that are strongly associated with AMD. 28583181 2017
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE HtrA1 is a serine protease suggested to play a role in the pathogenesis of various diseases, including age-related macular degeneration and osteoarthritis, by modulating extracellular matrix or cell surface proteins. 29695130 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 AlteredExpression disease BEFREE A promoter variant of the gene encoding HTRA1 is part of a mutant allele that causes increased HTRA1 expression and contributed to age-related macular degeneration (AMD) in genomewide association studies. 29730901 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE A significant genotype and variant allele association was found of rs10490924 in ARMS2/HTRA1 with wet AMD, while the SNPs in CFH, CFB, and C3 were not associated with AMD in the current Pakistani cohort. 30895599 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease LHGDN After age and sex adjustment, the odds ratio for risk of AMD was 9.1 (4.0-20.9, 95% CI, p=0.0001) for the AA genotype and 2.6 (1.3-5.5, 95% CI, p=0.04) for the AG genotype, conditional on HTRA1. 18079691 2007
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE After age and sex adjustment, the odds ratio for risk of AMD was 9.1 (4.0-20.9, 95% CI, p=0.0001) for the AA genotype and 2.6 (1.3-5.5, 95% CI, p=0.04) for the AG genotype, conditional on HTRA1. 18079691 2007
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE After controlling for established AMD risk factors, including polymorphisms of the genes encoding complement factor H (CFH) and age-related maculopathy susceptibility 2/HtrA serine peptidase (ARMS2/HTRA1), and smoking history, we found that ultraviolet irradiance was protective for the development of neovascular AMD (p = 0.001). 22155603 2011
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE Allele and genotype frequencies of single nucleotide polymorphisms for the following AMD-associated alleles were evaluated: risk alleles in complement factor H (CFH) gene (Y402H and IVS14) and LOC387715/HTRA1 gene on 10q26 (A69S) and protective alleles in CFH (IVS1, IVS6, and delCFHR1-3) and complement factor B loci (H9L and R32Q). 19001225 2008
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE Although specific alleles for CFH, ARMS2, HTRA1, and C3 may predict the development of AMD, they did not predict response to anti-vascular endothelial growth factor therapy. 23337555 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE Although the closely linked genome-wide association studies ARMS2/HTRA1 genes, located at the chromosome 10q26 locus, are strongly associated with the risk of AMD, their downstream targets are unknown. 24497574 2014
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE Among the variants located at the 10q26 region, rs11200638, located at the HTRA1 gene promoter, has been associated with age-related macular degeneration in several populations and is considered the main polymorphism. 28846052 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE Among these, HtrA1 is implicated in several cancers, cerebrovascular disease and age-related macular degeneration. 29093542 2017
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE Analysis of six genetic risk factors highly associated with AMD in the region surrounding ARMS2 and HTRA1 on chromosome 10, region q26. 19933195 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE Applying MicroScale Thermophoresis and protease digestion analysis, we demonstrate direct binding and proteolysis of transforming growth factor β1 (TGF-β1) by normal HTRA1 but not the AMD-risk-associated isoform. 26310622 2015
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 AlteredExpression disease BEFREE ARMS2 and HTRA1 mRNA levels did not show a significant difference in expression among the control (young and elderly) and AMD retinas. 20664794 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE ARMS2/HTRA1 locus can confer differential susceptibility to the advanced subtypes of age-related macular degeneration. 21122828 2011