Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker BEFREE OCT shows macular degeneration as early as at the age of 4 years. 31833436

2019

Entrez Id: 10062
Gene Symbol: NR1H3
NR1H3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.010 GeneticVariation BEFREE Specifically, loss of the Nr1h3 isoform results in pathobiologies aligned with AMD, supported by compromised visual function, accumulation of native and oxidized lipids in the outer retina, and upregulation of ocular inflammatory cytokines, while absence of Nr1h2 is associated with ocular lipoidal degeneration. 31829999

2020

Entrez Id: 100128998
Gene Symbol: C20orf181
C20orf181
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.040 Biomarker BEFREE Treatment of submacular hemorrhage with tissue plasminogen activator and pneumatic displacement in age-related macular degeneration. 31813290

2019

Entrez Id: 7098
Gene Symbol: TLR3
TLR3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.080 Biomarker BEFREE These data suggest that initial exposure of ARPE-19 cells to pI:C upregulates TLR3 and RelA signaling, leading to potentiated and persistent RelA signaling potentially generated by a positive feedback loop that may cause exacerbated inflammation in AMD. 31809875

2020

Entrez Id: 5806
Gene Symbol: PTX3
PTX3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.030 AlteredExpression BEFREE Furthermore, we assessed cell death, antioxidant enzyme expression, and AMD-associated gene expression to determine the biological functions of PTX3 under oxidative stress. 31795454

2019

Entrez Id: 100128998
Gene Symbol: C20orf181
C20orf181
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.040 Biomarker BEFREE Gravitational displacement following PPV combined with subretinal t-PA and intravitreal anti-VEGF injection can be considered as an effective surgical intervention in selected AMD patients with SMH. 31792350

2019

Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker BEFREE Then, a mouse model of dry AMD (Nrf2 wild-type (WT) and Nrf2 knockout (KO)) was established for evaluating the effects of Q-SD in vivo. 31781321

2019

Entrez Id: 2551
Gene Symbol: GABPA
GABPA
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.080 Biomarker BEFREE Then, a mouse model of dry AMD (Nrf2 wild-type (WT) and Nrf2 knockout (KO)) was established for evaluating the effects of Q-SD in vivo. 31781321

2019

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.400 Biomarker BEFREE Brolucizumab (Beovu<sup>®</sup>) is a low molecular weight, single-chain antibody fragment vascular endothelial growth factor (VEGF) inhibitor being developed by Novartis for the treatment of exudative (wet) age-related macular degeneration (AMD), diabetic macular oedema and macular oedema secondary to retinal vein occlusion. 31768932

2019

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.400 Biomarker BEFREE In December 2004, the US Food and Drug Administration approved the first aptamer-based therapeutic, pegaptanib (Macugen), targeting vascular endothelial growth factor, for the treatment of age-related macular degeneration. 31766318

2019

Entrez Id: 7078
Gene Symbol: TIMP3
TIMP3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation BEFREE Thus, understanding the molecular mechanisms that contribute to CNV as a consequence of TIMP-3 mutations will provide insight into the pathophysiology in SFD and likely the neovascular component of the more commonly seen AMD. 31757977

2019

Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker BEFREE First, the nuclear factor erythroid 2-related factor 2 (NFE2L2; NRF2)-mediated OS response signalling pathway is important in the prevention of oxidative damage and a failure of this system could be critical in the development of AMD. 31752195

2019

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.400 Biomarker BEFREE In this study, a prodrug of EGCG (pro-EGCG) alleviated mouse laser-induced CNV leakage and reduced CNV area by down-regulating HIF-1α/VEGF/VEGFR2 pathway; M1-type macrophage/microglia polarization; as well as endothelial cell viability, proliferation, migration and tube formation, indicating a novel potential therapy for AMD. 31743875

2020

Entrez Id: 3791
Gene Symbol: KDR
KDR
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker BEFREE In this study, a prodrug of EGCG (pro-EGCG) alleviated mouse laser-induced CNV leakage and reduced CNV area by down-regulating HIF-1α/VEGF/VEGFR2 pathway; M1-type macrophage/microglia polarization; as well as endothelial cell viability, proliferation, migration and tube formation, indicating a novel potential therapy for AMD. 31743875

2020

Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.080 Biomarker BEFREE In this study, a prodrug of EGCG (pro-EGCG) alleviated mouse laser-induced CNV leakage and reduced CNV area by down-regulating HIF-1α/VEGF/VEGFR2 pathway; M1-type macrophage/microglia polarization; as well as endothelial cell viability, proliferation, migration and tube formation, indicating a novel potential therapy for AMD. 31743875

2020

Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation BEFREE Associations of microRNAs, Angiogenesis-Regulating Factors and CFH Y402H Polymorphism-An Attempt to Search for Systemic Biomarkers in Age-Related Macular Degeneration. 31731799

2019

Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.140 AlteredExpression BEFREE AMD was an independent factor associated with lower levels of angiogenin (β = -0.29, <i>p</i> < 0.001), endostatin (β = -0.18, <i>p</i> < 0.001), FGF-basic (β = -0.18, <i>p</i> < 0.001), PlGF (β = -0.24, <i>p</i> < 0.001), miRNA-21-3p (β = -0.13, <i>p</i> = 0.01) and miRNA-155-5p (β = -0.16, <i>p</i> = 0.002); and with higher levels of FGF-acidic (β = 0.11, <i>p</i> = 0.03), miRNA-23a-3p (β = 0.17, <i>p</i> < 0.001), miRNA-126-5p (β = 0.13, <i>p</i> = 0.009), miRNA-16-5p (β = 0.40, <i>p</i> < 0.001), miRNA-17-3p (β = 0.13, <i>p</i> = 0.01), miRNA-17-5p (β = 0.17, <i>p</i> < 0.001), miRNA-223-3p (β = 0.15, <i>p</i> = 0.004), and miRNA-93 (β = 0.11, <i>p</i> = 0.04). 31731799

2019

Entrez Id: 283
Gene Symbol: ANG
ANG
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.020 AlteredExpression BEFREE AMD was an independent factor associated with lower levels of angiogenin (β = -0.29, <i>p</i> < 0.001), endostatin (β = -0.18, <i>p</i> < 0.001), FGF-basic (β = -0.18, <i>p</i> < 0.001), PlGF (β = -0.24, <i>p</i> < 0.001), miRNA-21-3p (β = -0.13, <i>p</i> = 0.01) and miRNA-155-5p (β = -0.16, <i>p</i> = 0.002); and with higher levels of FGF-acidic (β = 0.11, <i>p</i> = 0.03), miRNA-23a-3p (β = 0.17, <i>p</i> < 0.001), miRNA-126-5p (β = 0.13, <i>p</i> = 0.009), miRNA-16-5p (β = 0.40, <i>p</i> < 0.001), miRNA-17-3p (β = 0.13, <i>p</i> = 0.01), miRNA-17-5p (β = 0.17, <i>p</i> < 0.001), miRNA-223-3p (β = 0.15, <i>p</i> = 0.004), and miRNA-93 (β = 0.11, <i>p</i> = 0.04). 31731799

2019

Entrez Id: 263
Gene Symbol: AMD1P2
AMD1P2
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker BEFREE The onset of neurodegenerative diseases activates inflammation that leads to progressive neuronal cell death and impairments in cognition (Alzheimer's disease) and sight (age-related macular degeneration [AMD]). 31712409

2019

Entrez Id: 262
Gene Symbol: AMD1
AMD1
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker BEFREE The onset of neurodegenerative diseases activates inflammation that leads to progressive neuronal cell death and impairments in cognition (Alzheimer's disease) and sight (age-related macular degeneration [AMD]). 31712409

2019

Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker BEFREE Consensus was reached on a classification system for OCT-based structural alterations that occurred before the development of atrophy secondary to AMD. 31708275

2020

Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.010 Biomarker BEFREE Moreover, LAMP2-deficient mice developed molecular signatures similar to those found in human AMD-namely, the accumulation of APOE, APOA1, clusterin, and vitronectin-adjacent to BLamDs. 31699817

2019

Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.080 Biomarker BEFREE This study provides the groundwork necessary to establish safety profiles for strategies aiming at antagonizing HIF1A and HIF2A function in cone photoreceptors for the treatment of retinal degenerative diseases that involve a hypoxic component such as AMD. 31695081

2019

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.020 Biomarker BEFREE Thus, HIF1 and HIF2 recently emerged as potential therapeutic targets for AMD. 31695081

2019

Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.010 Biomarker BEFREE This study provides the groundwork necessary to establish safety profiles for strategies aiming at antagonizing HIF1A and HIF2A function in cone photoreceptors for the treatment of retinal degenerative diseases that involve a hypoxic component such as AMD. 31695081

2019