Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
0.110 GeneticVariation disease BEFREE Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy. 31116475 2019
Entrez Id: 4535
Gene Symbol: ND1
ND1
0.110 GeneticVariation disease BEFREE Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions. 24884847 2014
Entrez Id: 4535
Gene Symbol: ND1
ND1
0.110 CausalMutation disease CLINVAR
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
0.110 CausalMutation disease CLINVAR
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.100 Biomarker disease BEFREE The dysfunction of OPA1, a dynamin GTPase involved in mitochondrial fusion, is responsible for a large spectrum of neurological disorders, each of which includes optic neuropathy. 31500643 2019
Entrez Id: 4509
Gene Symbol: ATP8
ATP8
0.100 GeneticVariation disease CLINVAR In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes. 28027978 2017
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.100 GeneticVariation disease BEFREE This study expanded the OPA1 mutation spectrum, and our results showed that OPA1 mutation is another common cause of childhood-onset hereditary optic neuropathy in Chinese pediatric patients, especially those with disease onset during preschool age. 28081242 2017
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.100 GeneticVariation disease BEFREE Our results indicated that screening OPA1 mutation is needed for clinical diagnosis of patients with suspected optic neuropathy. 26867657 2017
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
0.100 CausalMutation disease CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474 2016
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.100 GeneticVariation disease BEFREE The association of CPEO and parkinsonism/dementia with subclinical optic neuropathy widens the phenotypic spectrum of OPA1 mutations, highlighting the association of defective mitochondrial dynamics, mtDNA multiple deletions, and altered mitophagy with parkinsonism. 25820230 2015
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.100 Biomarker disease BEFREE This study describes a clinical series of 40 patients from Saudi Arabia with a positive DOA phenotype (i.e., decreased visual acuity during the first 2 decades of life, temporal or global optic disc pallor, and absence of other neurological or ophthalmological diseases that could explain the optic neuropathy) who underwent molecular genetic testing for OPA1 (and, in some cases, for OPA3). 24051421 2013
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.100 GeneticVariation disease BEFREE Deletions in the OPA1 gene were found in 10 patients presenting with phenotypic autosomal dominant optic neuropathy. 21457585 2011
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.100 GeneticVariation disease BEFREE This review focuses on OPA1, one of the few known actors of inner membrane dynamics, whose mutations provoke an optic neuropathy. 20045077 2010
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.100 GeneticVariation disease BEFREE Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity. 19900585 2010
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.100 GeneticVariation disease BEFREE Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. 19319978 2009
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.100 GeneticVariation disease BEFREE Reversible optic neuropathy with OPA1 exon 5b mutation. 18360822 2008
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.100 Biomarker disease BEFREE /aims: In normal tension glaucoma (NTG) factors other than raised intraocular pressure have a role in the pathogenesis of the optic neuropathy. 15031162 2004
Entrez Id: 7275
Gene Symbol: TUB
TUB
0.100 CausalMutation disease CLINVAR
Entrez Id: 7874
Gene Symbol: USP7
USP7
0.100 GeneticVariation disease CLINVAR
Entrez Id: 2056
Gene Symbol: EPO
EPO
0.050 Biomarker disease BEFREE Intravitreal injection of EPO may be effective and safe in treatment of recent and old indirect traumatic optic neuropathy. 30647957 2018
Entrez Id: 2056
Gene Symbol: EPO
EPO
0.050 Biomarker disease BEFREE Erythropoietin (EPO) has recently been introduced as a good therapeutic option in methanol-induced optic neuropathy. 28849680 2018
Entrez Id: 2056
Gene Symbol: EPO
EPO
0.050 Biomarker disease BEFREE Intravenous EPO appears to improve VA in patients with methanol optic neuropathy and may represent a promising treatment for this disorder. 29300238 2018
Entrez Id: 2056
Gene Symbol: EPO
EPO
0.050 Biomarker disease BEFREE Intravitreal erythropoietin injection in late-stage optic neuropathy: a safety study on human. 28527030 2018
Entrez Id: 2056
Gene Symbol: EPO
EPO
0.050 Biomarker disease BEFREE New treatment strategies, such as erythropoietin for methanol optic neuropathy, are being proposed for TONs, a condition that was previously regarded as untreatable. 28120722 2017
Entrez Id: 4340
Gene Symbol: MOG
MOG
0.030 Biomarker disease BEFREE During the final follow-up, MOG-CRION patients had more bilateral involvement (p=0.008) and higher annualised relapse rates compared with the seronegative-CRION patients (p=0.019). 30514710 2019