Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4541
Gene Symbol: ND6
ND6
0.150 GeneticVariation group BEFREE These findings provide evidence that several allelic ND6 gene mutations may be involved in Lebers hereditary optic neuropathy. 9177303 1997
Entrez Id: 4541
Gene Symbol: ND6
ND6
0.150 GeneticVariation group BEFREE This is the seventh mutation in the ND6 gene that causes optic neuropathy, indicating that this gene is a hot spot for LHON mutations. 11133798 2001
Entrez Id: 4535
Gene Symbol: ND1
ND1
0.120 GeneticVariation group BEFREE Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions. 24884847 2014
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
0.120 GeneticVariation group BEFREE Both wild-type and certain myocilin variants containing mutations in the olfactomedin (OLF) domain are linked to the optic neuropathy glaucoma. 23129764 2012
Entrez Id: 51079
Gene Symbol: NDUFA13
NDUFA13
0.110 GeneticVariation group BEFREE Here, we describe the first germinal pathogenic mutation in the NDUFA13/GRIM19 gene encoding a CI subunit, in two sisters with early onset hypotonia, dyskinesia and sensorial deficiencies, including a severe optic neuropathy. 25901006 2015
Entrez Id: 4538
Gene Symbol: ND4
ND4
0.110 GeneticVariation group BEFREE It is shown here, however, that neither this biochemical lesion nor the optic neuropathy are due to the mutation at nucleotide position 11,778 of the mitochondrial ND4 gene first identified by Wallace et al. in several LHON pedigrees. 2121024 1990
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.100 GeneticVariation group 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 group 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 group 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 group BEFREE Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies. 21036400 2011
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.100 GeneticVariation group BEFREE Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity. 19900585 2010
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.100 GeneticVariation group 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 GeneticVariation group BEFREE In summary, we provide genetic and functional evidence that deep intronic mutations in OPA1 can cause optic atrophy and explain disease in a substantial share of families with unsolved inherited optic neuropathies. 24970096 2014
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.100 GeneticVariation group BEFREE Our results indicated that screening OPA1 mutation is needed for clinical diagnosis of patients with suspected optic neuropathy. 26867657 2017
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.100 GeneticVariation group 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 group LHGDN These results suggest that the clinical spectrum of the OPA1-associated optic neuropathies may be larger than previously described, and that spontaneous recovery may occur in cases harboring an exon 5b mutation. 18360822 2008
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.100 GeneticVariation group BEFREE Reversible optic neuropathy with OPA1 exon 5b mutation. 18360822 2008
Entrez Id: 84816
Gene Symbol: RTN4IP1
RTN4IP1
0.040 GeneticVariation group BEFREE Recessive RTN4IP1 gene mutations have been shown to cause isolated and syndromic optic neuropathies. 29181510 2018
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
0.040 GeneticVariation group BEFREE The optic atrophy 3 (OPA3) gene, which has no known homolog or biological function, is mutated in patients with hereditary optic neuropathies. 20372962 2010
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
0.040 GeneticVariation group 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: 80207
Gene Symbol: OPA3
OPA3
0.040 GeneticVariation group BEFREE The present study was designed to survey the mutation spectrum of common pathogenic genes (OPA1, OPA3 and mtDNA genes) and to analyze the genotype-phenotype characteristics of Chinese patients with suspected childhood-onset hereditary optic neuropathy. 28081242 2017
Entrez Id: 84816
Gene Symbol: RTN4IP1
RTN4IP1
0.040 GeneticVariation group BEFREE Our results identify novel compound heterozygous mutations in RTN4IP1 which are associated with OPA10, highlighting the frequency of RTN4IP1 mutations in human autosomal recessive IONs. 31077085 2019
Entrez Id: 84816
Gene Symbol: RTN4IP1
RTN4IP1
0.040 GeneticVariation group BEFREE Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. 26593267 2015
Entrez Id: 84816
Gene Symbol: RTN4IP1
RTN4IP1
0.040 GeneticVariation group BEFREE Siblings with optic neuropathy and RTN4IP1 mutation. 28638143 2017
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
0.040 GeneticVariation group BEFREE Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies. 21036400 2011