Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.420 GeneticVariation BEFREE The main hereditary vascular conditions involving both retinal and cerebral vessels include cerebroretinal vasculopathy, HERNS (hereditary endotheliopathy with retinopathy, nephropathy, and stroke), and hereditary vascular retinopathy; all are linked to the same locus on chromosome 3p21. 12525718

2003

Entrez Id: 11277
Gene Symbol: TREX1
TREX1
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.420 GeneticVariation BEFREE The RVCL disorders characterized by profound retinopathy are associated with mutations in TREX1, which encodes an abundant 3'-5' DNA-specific exonuclease. 21062344

2011

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.400 GeneticVariation BEFREE Among seven common polymorphisms in the promoter region, 5'-untranslated region (UTR) and 3'UTR of the VEGF gene, genotype distribution of the C(-634)G polymorphism differed significantly (P = 0.011) between patients with (n = 150) and without (n = 118) retinopathy, and the C allele was significantly increased in patients with retinopathy compared with those without retinopathy (P = 0.0037). 11978667

2002

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.400 GeneticVariation BEFREE Certain SNPs in intron 2 of the VEGF gene are associated with early progression of retinopathy in Japanese patients with type 1 diabetes, though their contributions were weakened by glycemic exposure. 19263526

2009

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.400 GeneticVariation BEFREE Meta-analysis of association between the -2578C/A polymorphism of the vascular endothelial growth factor and retinopathy in type 2 diabetes in Asians and Caucasians. 24751925

2014

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.400 GeneticVariation BEFREE Previous studies using a candidate gene approach have uncovered a number of genetic loci that may shape this risk, such as the VEGF gene for retinopathy, the ELMO1 gene for nephropathy, and the ADIPOQ gene for coronary artery disease. 20835900

2010

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.400 GeneticVariation BEFREE We examined the possible association of the VEGF gene polymorphisms with diabetic nephropathy and retinopathy in type 2 diabetes patients. 17121786

2007

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.400 GeneticVariation BEFREE However, until now only a handful number of genetic variants were reported to be associated with either nephropathy (ACE, ELMO1, FRMD3, and AKR1B1) or retinopathy (VEGF, AKR1B1, and EPO), and only a few studies were carried out for genetic susceptibility to cardiovascular diseases (ADIPOQ, GLUL) in patients with diabetes. 25169573

2014

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.400 GeneticVariation BEFREE Association between the -634C/G polymorphisms of the vascular endothelial growth factor and retinopathy in type 2 diabetes: a meta-analysis. 20591524

2010

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.400 GeneticVariation BEFREE To determine the potential genotype differences in the vascular endothelial growth factor (VEGF) gene in diabetic patients, which might explain the difference in terms of the development of clinical vascular complications: great vessels atherosclerosis vs. retinopathy. 22064697

2012

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.400 GeneticVariation BEFREE The VEGF -460 genotype was predictive of retinopathy, even after controlling for blood pressure, glycemic control, duration of diabetes, and obesity (P = 0.02). 14988276

2004

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.400 GeneticVariation BEFREE The use of VEGF inhibitors for treatment of macular edema (due to radiation retinopathy) after irradiation of UM should be considered carefully, because of the possible adverse effects on residual UM cells. 23077404

2012

Entrez Id: 7124
Gene Symbol: TNF
TNF
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.400 GeneticVariation BEFREE In this study, we correlated the length of the (GT)n microsatellite di-nucleotide repeat upstream to the promoter region of TNF gene with susceptibility for the development of retinopathy. 11640992

2001

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.400 GeneticVariation BEFREE Functional polymorphisms within vascular endothelial growth factor (VEGF) gene have shown association with various conditions including diabetic neuropathy and retinopathy. 21596454

2011

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.400 GeneticVariation BEFREE The vascular endothelial growth factor (VEGF) +405 (C/G) and -460 (T/C) polymorphisms are associated with retinopathy and possibly with nephropathy, however no information is available on their relationship with peripheral neuropathy. 28662688

2017

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.400 GeneticVariation BEFREE These data demonstrate that multiple VEGFA variants are associated with the development of severe retinopathy in type 1 diabetes. 17513698

2007

Entrez Id: 7124
Gene Symbol: TNF
TNF
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.400 GeneticVariation BEFREE An association in non-insulin-dependent diabetes mellitus subjects between susceptibility to retinopathy and tumor necrosis factor polymorphism. 9157089

1996

Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.370 GeneticVariation BEFREE The first human clinical trials of gene therapy for RPE65 associated retinal dystrophy have shown promising initial results and have helped prepare the way for further trials of gene therapy for inherited retinal disorders. 22080959

2012

Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.370 GeneticVariation BEFREE The clinical features of retinal disease due to a dominant mutation in RPE65. 27307694

2016

Entrez Id: 3383
Gene Symbol: ICAM1
ICAM1
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.340 GeneticVariation BEFREE These data suggest that the ICAM-1 469KK genotype could be a genetic risk factor for retinopathy in Type 2 diabetes mellitus. 12027924

2002

Entrez Id: 3383
Gene Symbol: ICAM1
ICAM1
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.340 GeneticVariation BEFREE Association of intercellular adhesion molecule 1 polymorphisms with retinopathy in Chinese patients with Type 2 diabetes. 16759306

2006

Entrez Id: 8322
Gene Symbol: FZD4
FZD4
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.330 GeneticVariation BEFREE This suggests that the FZD4 p.[P33S(;)P168S] variant may be a risk factor for retinopathy and restricted intrauterine growth. 26119001

2015

Entrez Id: 4843
Gene Symbol: NOS2
NOS2
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.310 GeneticVariation BEFREE In diabetes, allelic polymorphism of the inducible nitric oxide synthase (iNOS) gene is associated with retinopathy in the Northern Irish population. 12081717

2002

Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.260 GeneticVariation BEFREE Mutations in the peripherin/RDS gene have been identified in families with various retinopathies including those affecting primarily the macula and those restricted to the retinal periphery. 17148040

2006

Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.260 GeneticVariation BEFREE This study reveals genetic heterogeneity for BSMD by the identification of a BSMD family, which is not associated with a mutation in the peripherin/RDS gene nor with any other known non-syndromic retinal disease gene. 12724643

2003