| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. | 21364701 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Progressive encephalopathy and complex I deficiency associated with mutations in MTND1. | 18504678 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Progressive encephalopathy and complex I deficiency associated with mutations in MTND1. | 18504678 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Sequence variation in mitochondrial complex I genes: mutation or polymorphism? | 15972314 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I. | 16849371 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutations of the mitochondrial ND1 gene as a cause of MELAS. | 15466014 | 2004 |
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|
A | 0.700 | CausalMutation | CLINVAR | Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy. | 12205655 | 2002 |
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|
T | 0.700 | CausalMutation | CLINVAR | Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. | 11799391 | 2002 |
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|
G | 0.700 | CausalMutation | CLINVAR | Infantile encephalopathy associated with the MELAS A3243G mutation. | 10356136 | 1999 |
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|
T | 0.700 | CausalMutation | CLINVAR | A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome. | 9270602 | 1997 |
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|
C | 0.700 | CausalMutation | CLINVAR |