Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.810 | GeneticVariation | BEFREE | Five nonsynonymous changes, including primary LHON mutations (NADH dehydrogenase subunit 1 [ND1]:p.A52T, NADH dehydrogenase subunit 6 [ND6]:p.M64V, adenosine triphosphate [ATP] synthase subunit a (F-ATPase protein 6) [ATPase6]:p.M181T, NADH dehydrogenase subunit 4 [ND4]:p.R340H, and cytochrome B [CYB]:p.F181L), were found to be pathogenic. | 23170061 | 2012 |
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0.810 | GeneticVariation | UNIPROT | Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. | 1928099 | 1991 |
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0.810 | GeneticVariation | UNIPROT | An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. | 1417830 | 1992 |
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0.810 | GeneticVariation | UNIPROT | Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. | 2018041 | 1991 |
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A | 0.810 | CausalMutation | CLINVAR | Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. | 1928099 | 1991 |
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0.810 | GeneticVariation | UNIPROT | A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. | 1674640 | 1991 |
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0.810 | GeneticVariation | UNIPROT | Electron transfer properties of NADH:ubiquinone reductase in the ND13460 and the ND411778 mutations of the Leber hereditary optic neuroretinopathy (LHON). | 1959619 | 1991 |
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0.810 | GeneticVariation | UNIPROT | Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. | 1900003 | 1991 |