Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease BEFREE Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. 26561570 2016
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease BEFREE Pathogenic OPA1 mutations cause autosomal dominant optic atrophy (DOA), a condition characterized by the preferential loss of retinal ganglion cells and progressive optic nerve degeneration. 20484224 2010
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease LHGDN These molecular analyses contributed to identifying a novel mutation of the OPA1 gene with a clinical phenotype of isolated optic atrophy. 17318099 2007
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease BEFREE Finally OPA1 missense mutations are involved in phenotypes presenting optic atrophy as a major feature.To define the relative contribution of POLG1, POLG2, ANT1 and PEO1 genes to the mtDNA multiple deletion syndromes, we analysed them in a cohort of 67 probands showing accumulation of multiple mtDNA deletions in muscle. 18575922 2008
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease BEFREE In this study, iPSCs were obtained from patients carrying an OPA1 mutation (OPA1 (+/-) -iPSC) that were diagnosed with optic atrophy. 26738566 2016
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease BEFREE Screening for OPA1 gene mutations in patients with childhood onset optic atrophy who have no affected relatives is useful in making the diagnosis. 19969356 2010
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease BEFREE OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. 16240368 2005
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease LHGDN This study describes a mutation in OPA1 causing a unique syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia. 15531309 2004
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease BEFREE Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder. 23387428 2013
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease BEFREE Hearing impairment is the second most prevalent clinical feature after optic atrophy in dominant optic atrophy associated with mutations in the OPA1 gene. 25564500 2015
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease LHGDN Optic atrophy and negative electroretinogram in a patient associated with a novel OPA1 mutation. 16021496 2006
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease BEFREE Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families. 22197506 2012
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease LHGDN Mutations of the OPA1 gene may contribute to the development of optic nerve atrophy in Japanese cases of optic atrophy. 12566046 2003
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease BEFREE Mutations of the OPA1 gene may contribute to the development of optic nerve atrophy in Japanese cases of optic atrophy. 12566046 2003
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease BEFREE Two genes for dominantly inherited optic atrophy have been mapped (OPA1 and OPA4), of which the gene has been identified in one (OPA1). 15534598 2004
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease BEFREE An OPA1 missense mutation, c.239A→G (p.Y80C), was identified in an 11-year-old black girl with optic atrophy and peripheral sensorimotor neuropathy in her lower limbs. 21036400 2011
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease BEFREE Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene. 14566653 2003
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease BEFREE Compound heterozygosity of pathogenic OPA1 mutations may cause severe neuromuscular phenotypes in addition to early-onset optic atrophy. 21636302 2011
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease LHGDN OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. 16240368 2005
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease BEFREE Forty patients with a molecular diagnosis of DOA due to OPA1 mutations were prospectively recruited from our neuro-ophthalmology clinic: 26 patients with isolated optic atrophy and 14 patients manifesting DOA+ features. 21378995 2011
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease BEFREE OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. 18158317 2008
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease BEFREE Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. 14961560 2003
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease LHGDN The mutations (Glu347Stop and Arg366Stop) of the OPA1 gene are involved in the pathogenesis of bilateral optic atrophy in Japanese patients. 12842213 2003
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.400 GeneticVariation disease BEFREE Dominant optic atrophy (DOA, gene OPA1) is the commonest form of inherited optic atrophy. 11306804 2001