| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. | 25058219 | 2014 |
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|
A | 0.800 | CausalMutation | CLINVAR | MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. | 23929671 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. | 22608499 | 2012 |
||||
|
A | 0.800 | CausalMutation | CLINVAR | Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. | 22608499 | 2012 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease. | 29440775 | 2018 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | The genotypic and phenotypic spectrum of MTO1 deficiency. | 29331171 | 2018 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. | 23929671 | 2013 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
CA | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR |