Source: ALL
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
0.700 Biomarker disease GENOMICS_ENGLAND
MACULAR DEGENERATION, AGE-RELATED, 8
0.300 Biomarker disease CTD_human
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation disease BEFREE 1093 patients with exudative AMD and 396 controls have been recruited and genotyped for the Y402H of CFH, rs10490924 of ARMS2 and T280M of the CX3CR1 gene. 21621535 2011
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 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: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE AMD is a complex disorder caused by genetic and environmental factors in which single nucleotide polymorphisms (SNPs) in the genes CFH and LOC387715/HTRA1/ARMS2 have prognostic importance for progression to advanced AMD (with visual loss). 19015224 2009
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation disease BEFREE AMD donors carrying the ARMS2 and HTRA1 risk alleles were the most likely to exhibit elevated CEP markers. 19202148 2009
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 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
0.700 GeneticVariation disease BEFREE AMD donors carrying the ARMS2 and HTRA1 risk alleles were the most likely to exhibit elevated CEP markers. 20238042 2010
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE AMD donors carrying the ARMS2 and HTRA1 risk alleles were the most likely to exhibit elevated CEP markers. 20238042 2010
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE AMD patients with risk variants at rs1061170 (rs1061170" genes_norm="3075">CFH:p.Y402H) and ARMS2 and smokers (≥20 packs/year) were significantly earlier affected by AMD than those carrying the non-risk variants at each locus. 23103884 2013
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE AMD-associated variants at the chromosome 10q26 locus and the stability of ARMS2 transcripts. 23942973 2013
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE AMD (n=316) was strongly associated with CFH (p=1.78×10(-7)) and ARMS2 genotypes (p=1.67×10(-8)). 26614632 2016
CUI: C1260959
Disease: Drusen
Drusen
0.090 GeneticVariation disease BEFREE Drusen area ≥ the median was independently associated with a higher number of risk alleles for CFH risk score and risk variants in C3 and ARMS2/HTRA1 compared with eyes with no measurable drusen. 31658355 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 Biomarker disease BEFREE ARMS2 was mainly distributed in the cytosol, not in the mitochondrial outer membrane as previously reported, suggesting that ARMS2 may not confer risk to AMD through the mitochondrial pathway. 19255159 2009
Exudative age-related macular degeneration
0.200 GeneticVariation disease BEFREE ARMS2 (LOC387715) variants in Japanese patients with exudative age-related macular degeneration and polypoidal choroidal vasculopathy. 19268887 2009
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy
0.100 GeneticVariation disease BEFREE ARMS2 (LOC387715) variants in Japanese patients with exudative age-related macular degeneration and polypoidal choroidal vasculopathy. 19268887 2009
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 Biomarker disease BEFREE ARMS2 is a constituent of the extracellular matrix providing a link between familial and sporadic age-related macular degenerations. 19696174 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 Biomarker disease BEFREE ARMS2 is a constituent of the extracellular matrix providing a link between familial and sporadic age-related macular degenerations. 19696174 2010
CUI: C2609315
Disease: Retinal angiomatous proliferation
Retinal angiomatous proliferation
0.060 GeneticVariation disease BEFREE ARMS2 A69S has a strong association with all three subtypes, with the association being strongest for RAP and weakest for PCV. 20574013 2010
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy
0.100 GeneticVariation disease BEFREE ARMS2 A69S has a strong association with all three subtypes, with the association being strongest for RAP and weakest for PCV. 20574013 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 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
0.700 GeneticVariation disease BEFREE ARMS2/HTRA1 locus can confer differential susceptibility to the advanced subtypes of age-related macular degeneration. 21122828 2011
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy
0.100 GeneticVariation disease BEFREE ARMS2 variants are likely associated with the phenotype and the effects of PDT in tAMD and PCV. 21541271 2011
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation disease BEFREE ARMS2 rs10490924 was also significantly associated with the risk allele T found at a frequency of 0.5 in AMD and 0.15 in controls (p < 0.017, χ(2) test). 23362846 2013
Exudative age-related macular degeneration
0.200 GeneticVariation disease BEFREE ARMS2 A69S polymorphism is associated with the number of ranibizumab injections needed for exudative age-related macular degeneration in a pro re nata regimen during 4 years of follow-up. 28744656 2017