Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 Biomarker group BEFREE Nevertheless, OPA1 is known to affect mitochondrial stability and has now been implicated in several spontaneous optic neuropathies. 21552501 2011
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 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 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 Biomarker group BEFREE OPA1 gene sequencing in patients with hereditary optic neuropathies indicates that the clinical spectrum of ADOA is larger than previously thought. 19389487 2009
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.100 Biomarker group LHGDN OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. 18222991 2008
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: 4976
Gene Symbol: OPA1
OPA1 		0.100 Biomarker group 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: 374291
Gene Symbol: NDUFS7
NDUFS7 		0.100 Biomarker group HPO
Entrez Id: 493856
Gene Symbol: CISD2
CISD2 		0.100 Biomarker group HPO
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.100 Biomarker group HPO
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		0.100 Biomarker group HPO
Entrez Id: 4715
Gene Symbol: NDUFB9
NDUFB9 		0.100 Biomarker group HPO
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		0.100 Biomarker group HPO
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3 		0.100 Biomarker group HPO
Entrez Id: 64240
Gene Symbol: ABCG5
ABCG5 		0.100 Biomarker group HPO
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8 		0.100 Biomarker group HPO
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2 		0.100 Biomarker group HPO
Entrez Id: 4514
Gene Symbol: COX3
COX3 		0.100 Biomarker group HPO
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2 		0.100 Biomarker group HPO
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10 		0.100 Biomarker group HPO
Entrez Id: 4539
Gene Symbol: ND4L
ND4L 		0.100 Biomarker group HPO