| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.800 | CausalMutation | CLINVAR | Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA. | 16337195 | 2005 |
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|
C | 0.800 | CausalMutation | CLINVAR | Clinical and molecular findings in children with complex I deficiency. | 15576045 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. | 14595656 | 2003 |
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|
C | 0.800 | CausalMutation | CLINVAR | Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. | 14684687 | 2003 |
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|
C | 0.800 | CausalMutation | CLINVAR | Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. | 14595656 | 2003 |
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|
C | 0.700 | CausalMutation | CLINVAR | Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy. | 12205655 | 2002 |
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|
A | 0.700 | GeneticVariation | CLINVAR | An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. | 11781695 | 2001 |
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|
A | 0.700 | CausalMutation | CLINVAR | Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. | 10894222 | 2000 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. | 11047755 | 2000 |
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|
A | 0.700 | CausalMutation | CLINVAR | Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. | 8622678 | 1996 |
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|
A | 0.700 | CausalMutation | CLINVAR | A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. | 8016139 | 1994 |