Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.300 Biomarker group CTD_human Because PAX2 gene mutations were detected in papillorenal syndrome, alternation of PAX2 function by PAX6 mutations may affect phenotypic manifestations of optic-nerve malformations. 12721955 2003
Entrez Id: 4541
Gene Symbol: ND6
ND6
0.150 Biomarker group LHGDN T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family. 18440284 2008
Entrez Id: 4541
Gene Symbol: ND6
ND6
0.150 Biomarker group LHGDN A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family. 15922297 2005
Entrez Id: 4541
Gene Symbol: ND6
ND6
0.150 Biomarker group LHGDN Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy. 12112086 2002
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: 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 Biomarker group HPO
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: 4535
Gene Symbol: ND1
ND1
0.120 Biomarker group LHGDN The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. 15505787 2004
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
0.120 Biomarker group BEFREE Peak intraocular pressure (IOP) did not differ significantly between the two groups of families, while linkage to GLC1A conferred a highly increased risk of developing OAG and of having severe glaucomatous optic neuropathy. 9222961 1997
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
0.120 Biomarker group HPO
Entrez Id: 4535
Gene Symbol: ND1
ND1
0.120 Biomarker group HPO
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: 4694
Gene Symbol: NDUFA1
NDUFA1
0.110 Biomarker group BEFREE Using a ribozyme designed to degrade the mRNA encoding a critical nuclear-encoded subunit gene of complex I (NDUFA1), we tested whether oxidative phosphorylation deficiency can recapitulate the optic neuropathy of mitochondrial disease. 12557286 2003
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: 4694
Gene Symbol: NDUFA1
NDUFA1
0.110 Biomarker group HPO
Entrez Id: 51079
Gene Symbol: NDUFA13
NDUFA13
0.110 Biomarker group HPO
Entrez Id: 4538
Gene Symbol: ND4
ND4
0.110 Biomarker group HPO
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.100 Biomarker group 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: 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 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 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 Biomarker 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