Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. | 30140060 | 2018 |
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|
0.700 | GeneticVariation | UNIPROT | Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. | 22499348 | 2012 |
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|
0.700 | GeneticVariation | UNIPROT | Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. | 14729820 | 2004 |
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|
T | 0.800 | GeneticVariation | CLINVAR | A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. | 30140060 | 2018 |
|||
|
0.800 | GeneticVariation | UNIPROT | A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. | 30140060 | 2018 |
||||
|
0.800 | GeneticVariation | UNIPROT | A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. | 30140060 | 2018 |
||||
|
0.800 | GeneticVariation | UNIPROT | Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. | 22499348 | 2012 |
||||
|
T | 0.800 | GeneticVariation | CLINVAR | Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. | 22499348 | 2012 |
|||
|
0.800 | GeneticVariation | UNIPROT | Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. | 22499348 | 2012 |
||||
|
T | 0.800 | GeneticVariation | CLINVAR | Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. | 14729820 | 2004 |
|||
|
0.800 | GeneticVariation | UNIPROT | Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. | 14729820 | 2004 |
||||
|
0.800 | GeneticVariation | UNIPROT | Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. | 14729820 | 2004 |
||||
|
T | 0.800 | GeneticVariation | CLINVAR | Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. | 14729820 | 2004 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR |