Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.100 GeneticVariation BEFREE Alternatively, focus on discovering of non-retinoid small molecules beneficial in retinopathies associated with mutations in rhodopsin is currently a fast-growing pharmacological field. 31835521

2019

Entrez Id: 7124
Gene Symbol: TNF
TNF
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.400 Biomarker BEFREE Mean ± SD tear TPC and TNF-α concentrations for normal were 7.10 ± 1.53 and 1.39 ± 0.24 pg/mL; for diabetes without retinopathy, 6.37 ± 1.65 and 1.53 ± 0.27 pg/mL; for mild NPDR, 6.32 ± 2.05 and 1.60 ± 0.21 pg/mL; for moderate NPDR, 3.88 ± 1.38 and 1.99 ± 0.05 pg/mL; and for severe NPDR, 3.64 ± 1.26 and 2.21 ± 0.04 pg/mL, respectively. 31834153

2019

Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.020 Biomarker BEFREE PDE6C retinopathy is a severe cone dysfunction syndrome often presenting as typical achromatopsia but without foveal hypoplasia. 31826238

2019

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.200 GeneticVariation BEFREE Four novel pathogenic variants, p.Gln636Lys, p.Ile1114del, p.Thr1117Ala, and p.Asn1588Tyr, were identified. p.Gln294Ter, p.Leu1157Ter, and p.Lys2049ArgfsTer12 were repeatedly detected in Koreans with <i>ABCA4</i>-associated retinal diseases (<i>ABCA4-</i>RD). 31814693

2019

Entrez Id: 3553
Gene Symbol: IL1B
IL1B
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.040 AlteredExpression BEFREE In addition, it can ameliorate retinopathy in diabetic rats by inhibiting the expressions of IL-1β and Fox01. 31773666

2019

Entrez Id: 55384
Gene Symbol: MEG3
MEG3
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.010 Biomarker BEFREE LncRNA MEG3 plays an important role in retinopathy in diabetic rats. 31773666

2019

Entrez Id: 26291
Gene Symbol: FGF21
FGF21
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.040 Biomarker BEFREE Pemafibrate Prevents Retinal Pathological Neovascularization by Increasing FGF21 Level in a Murine Oxygen-Induced Retinopathy Model. 31771164

2019

Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.020 Biomarker BEFREE In this paper, we reveal a therapeutic effect of a selective PPARα modulator (SPPARMα), pemafibrate, against pathological angiogenesis in murine models of retinopathy. 31771164

2019

Entrez Id: 4908
Gene Symbol: NTF3
NTF3
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.010 Biomarker BEFREE However, the role of NT-3 in the hypoxia-induced retinopathy has not been investigated extensively. 31768729

2020

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.030 Biomarker BEFREE Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy. 31766479

2019

Entrez Id: 231
Gene Symbol: AKR1B1
AKR1B1
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.100 Biomarker BEFREE Protein kinase C (PKC) and aldose reductase (AR) enzyme activities are increased in diabetes and its complications such as retinopathy, nephropathy and neuropathy. 31743046

2019

Entrez Id: 84335
Gene Symbol: AKT1S1
AKT1S1
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.010 PosttranslationalModification BEFREE PF4 antagonizes retinal neovascularization via inhibiting PRAS40 phosphorylation in a mouse model of oxygen-induced retinopathy. 31740404

2020

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.200 GeneticVariation BEFREE ABCA4 locus resequencing was followed by the analysis of other inherited retinal disease genes by whole exome sequencing (WES). 31721179

2020

Entrez Id: 378805
Gene Symbol: LINC-PINT
LINC-PINT
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.010 AlteredExpression BEFREE The follow-up study showed that LINC-PINT was downregulated in patients who developed cardiomyopathy and retinopathy or both but not in patients who developed other complications. 31711064

2019

Entrez Id: 3458
Gene Symbol: IFNG
IFNG
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.030 Biomarker BEFREE Results strongly correlated raised Th1/Th2 cytokines such as interferon-gamma (IFN-γ)/interleukin (IL)-5 and IL-2/IL-5 ratios to T2D, and this was positively linked with the other complications including retinopathy and cardiovascular complications. 31704479

2020

Entrez Id: 3567
Gene Symbol: IL5
IL5
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.010 GeneticVariation BEFREE Results strongly correlated raised Th1/Th2 cytokines such as interferon-gamma (IFN-γ)/interleukin (IL)-5 and IL-2/IL-5 ratios to T2D, and this was positively linked with the other complications including retinopathy and cardiovascular complications. 31704479

2020

Entrez Id: 378938
Gene Symbol: MALAT1
MALAT1
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.020 Biomarker BEFREE Long non-coding RNA MALAT1 participates in the pathological angiogenesis of diabetic retinopathy in oxygen-induced retinopathy mouse model by sponging miR-203a-3p. 31689123

2019

Entrez Id: 8862
Gene Symbol: APLN
APLN
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.010 Biomarker BEFREE ROC curve revealed that omentin-1 was the best discriminant for DR while apelin was the best discriminant for vision threatening retinopathy. 31686535

2019

Entrez Id: 4155
Gene Symbol: MBP
MBP
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.010 Biomarker BEFREE MBP immunization led to very mild disease without significant retinopathy. 31684959

2019

Entrez Id: 23771
Gene Symbol: DIANPH
DIANPH
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.020 Biomarker BEFREE BRAIN FUNCTION ALTERATIONS IN PATIENTS WITH DIABETIC NEPHROPATHY COMPLICATED BY RETINOPATHY UNDER RESTING STATE CONDITIONS ASSESSED BY VOXEL-MIRRORED HOMOTOPIC CONNECTIVITY. 31682517

2020

Entrez Id: 55068
Gene Symbol: ENOX1
ENOX1
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.010 AlteredExpression BEFREE Human retinal endothelial cells (HRECs) and human retinal pigment epithelial cells (HREpiCs) exposed to a high concentration (25 mM) of D-glucose and type 2 diabetes (T2D) mice (+Lepr<sup>db</sup>/+Lepr<sup>db</sup>, db/db) with retinopathy were used as models to determine the ENOX1 expression levels there. 31662505

2020

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.400 Biomarker BEFREE The results suggest that the protective effect of TXF against cataract and retinopathy may be due to the anti-oxidative potential of TXF and its inhibiting effect on VEGF, ERK1/2, p38MAPK and aldose reductase. 31656158

2019

Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.100 Biomarker BEFREE 3D optical coherence tomography angiography (OCT-A) is a novel and non-invasive imaging modality for analyzing retinal diseases. 31647423

2019

Entrez Id: 183
Gene Symbol: AGT
AGT
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.080 Biomarker BEFREE Our recent data demonstrate that immunoproteasome catalytic subunit β2i contributes to angiotensin II (Ang II)-induced retinopathy in mice. 31636038

2020

Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.020 Biomarker BEFREE We induced a murine model of retinopathy by infusing Ang II (3,000 ng/kg/min) for 3 weeks into wild-type (WT) mice, β5i-knockout (KO) mice, or WT mice injected with either adenovirus-expressing β5i (Ad-β5i) or angiotensin II type 1 receptor (AT1R)-associated protein (Ad-ATRAP), which inhibits AT1R. 31636038

2020