Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908376
rs121908376
OPA1 ; LOC102724808
0.800 GeneticVariation UNIPROT Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder. 23387428

2013
dbSNP: rs121908376
rs121908376
OPA1 ; LOC102724808
0.800 GeneticVariation UNIPROT Heterozygous OPA1 mutations in Behr syndrome. 21112924

2011
dbSNP: rs121908376
rs121908376
OPA1 ; LOC102724808
0.800 GeneticVariation UNIPROT OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation. 20185555

2010
dbSNP: rs121908376
rs121908376
OPA1 ; LOC102724808
0.800 GeneticVariation UNIPROT OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. 18158317

2008
dbSNP: rs121908376
rs121908376
OPA1 ; LOC102724808
0.800 GeneticVariation UNIPROT Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1. 18195150

2008
dbSNP: rs121908376
rs121908376
OPA1 ; LOC102724808
0.800 GeneticVariation UNIPROT Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. 18065439

2008
dbSNP: rs121908376
rs121908376
OPA1 ; LOC102724808
0.800 GeneticVariation UNIPROT OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. 16240368

2005
dbSNP: rs121908376
rs121908376
OPA1 ; LOC102724808
0.800 GeneticVariation UNIPROT Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. 15531309

2004
dbSNP: rs121908376
rs121908376
OPA1 ; LOC102724808
G 0.800 CausalMutation CLINVAR