Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6742
Gene Symbol: SSBP1
SSBP1
0.010 GeneticVariation group BEFREE In this issue of the JCI, Del Dotto et al. and Piro-Mégy et al. identify heterozygous mutations in nuclear-encoded mitochondrial single-strand binding protein 1 (SSBP1) in patients with apparently dominant optic neuropathy with or without extraocular phenotypes. 31738184 2020
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
0.010 GeneticVariation group BEFREE Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy. 31116475 2019
Entrez Id: 23531
Gene Symbol: MMD
MMD
0.010 GeneticVariation group BEFREE This study sought to identify overt and subclinical optic neuropathy in a cohort with classical MMA. 31269850 2019
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.010 AlteredExpression group BEFREE Inclusion criteria were unilateral chronic optic neuropathy and a work-up including contrast-enhanced MRI brain and orbits, CBC, ESR, CRP, ANA, CMIA, and ACE. 30760894 2019
Entrez Id: 1401
Gene Symbol: CRP
CRP
0.010 AlteredExpression group BEFREE Inclusion criteria were unilateral chronic optic neuropathy and a work-up including contrast-enhanced MRI brain and orbits, CBC, ESR, CRP, ANA, CMIA, and ACE. 30760894 2019
Entrez Id: 6347
Gene Symbol: CCL2
CCL2
0.010 Biomarker group BEFREE These results indicate that intravitreal injection of 2D-MSCs is a promising therapeutic strategy for retinal pathological diseases characterized by the loss of RGCs and open the door for the application of SCGF-β, HGF, and MCP-1 in the treatment of optic nerve diseases. 31202832 2019
Entrez Id: 3082
Gene Symbol: HGF
HGF
0.010 Biomarker group BEFREE These results indicate that intravitreal injection of 2D-MSCs is a promising therapeutic strategy for retinal pathological diseases characterized by the loss of RGCs and open the door for the application of SCGF-β, HGF, and MCP-1 in the treatment of optic nerve diseases. 31202832 2019
Entrez Id: 9735
Gene Symbol: KNTC1
KNTC1
0.010 Biomarker group BEFREE The causes of optic neuropathy were analyzed, and the special sign in MRI to diagnose IgG4-ROD was also evaluated. 31215395 2019
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.010 AlteredExpression group BEFREE Inclusion criteria were unilateral chronic optic neuropathy and a work-up including contrast-enhanced MRI brain and orbits, CBC, ESR, CRP, ANA, CMIA, and ACE. 30760894 2019
Entrez Id: 7070
Gene Symbol: THY1
THY1
0.010 Biomarker group BEFREE In the IP sildenafil subgroup, optic neuropathy was observed in 6/120 optic nerves, including 3 cyan fluorescence protein (CFP)-Thy-1 mice. 31063183 2019
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
0.010 Biomarker group BEFREE This study expands our understanding of SIRT1 and NRF2-mediated neuroprotection in the context of MS pathogenesis and optic neuropathies. 29494741 2018
Entrez Id: 23411
Gene Symbol: SIRT1
SIRT1
0.010 Biomarker group BEFREE This study expands our understanding of SIRT1 and NRF2-mediated neuroprotection in the context of MS pathogenesis and optic neuropathies. 29494741 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.010 Biomarker group BEFREE Hsp70 and p53 that have been postulated to be involved in the pathogenesis of glaucoma, a chronic optic neuropathy leading to irreversible blindness. 29107807 2018
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.010 Biomarker group BEFREE Tumor Necrosis Factor Inhibition in the Acute Management of Traumatic Optic Neuropathy. 30025145 2018
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
0.010 Biomarker group BEFREE In this study, we tested the effects of LM22A-4, a small molecule TrkB receptor-specific partial agonist, on RGC survival in vitro and in experimental nonarteritic anterior ischemic optic neuropathy (AION), the most common acute optic neuropathy in those older than 50 years. 30273053 2018
Entrez Id: 2551
Gene Symbol: GABPA
GABPA
0.010 Biomarker group BEFREE This study expands our understanding of SIRT1 and NRF2-mediated neuroprotection in the context of MS pathogenesis and optic neuropathies. 29494741 2018
Entrez Id: 11169
Gene Symbol: WDHD1
WDHD1
0.010 Biomarker group BEFREE The study examined 16 eyes of 16 patients who had late-stage ON and ≥1/20 best-corrected visual acuity (BCVA) in their affected eye. 28527030 2018
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
0.010 Biomarker group BEFREE To define and characterize the extent of optic neuropathy in patients with CMT2A and CMT1A, two patients from both sub-classifications were evaluated. 29063243 2017
Entrez Id: 54106
Gene Symbol: TLR9
TLR9
0.010 Biomarker group BEFREE Blockage of HMGB1 and/or TLR9 may represent a novel approach to treating diabetic retinopathy and diabetic optic neuropathy. 28647749 2017
Entrez Id: 103164619
Gene Symbol: PCAT2
PCAT2
0.010 Biomarker group BEFREE Based on this observation, we recommend that the workup should include PCA-2 antibodies in patients who present with bilateral optic neuropathy and vitreous cells. 27759576 2017
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.010 Biomarker group BEFREE To define and characterize the extent of optic neuropathy in patients with CMT2A and CMT1A, two patients from both sub-classifications were evaluated. 29063243 2017
Entrez Id: 5031
Gene Symbol: P2RY6
P2RY6
0.010 Biomarker group BEFREE We report that the P2Y6 receptor is critical for lowering IOP and that ablation of the P2Y6 gene in mice (P2Y6KO) results in hypertensive glaucoma-like optic neuropathy. 28978804 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.010 Biomarker group BEFREE These results suggest that high efficiency AAV2-mediated PTEN knockdown represents a practicable therapeutic strategy for optic neuropathy. 28323869 2017
Entrez Id: 57556
Gene Symbol: SEMA6A
SEMA6A
0.010 Biomarker group BEFREE Melatonin regulates traumatic optic neuropathy via targeting autophagy. 29164563 2017
Entrez Id: 5241
Gene Symbol: PGR
PGR
0.010 Biomarker group BEFREE The authors describe herein a case of optic neuropathy in progesterone receptor positive sphenoid wing meningioma of the greater wing which demonstrated spontaneous recovery with conservative management. 28582368 2017