| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease. | 29440775 | 2018 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature. | 27839525 | 2017 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation. | 25705216 | 2015 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. | 25058219 | 2014 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. | 22277967 | 2012 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. | 21549344 | 2011 |
|||
|
0.800 | GeneticVariation | UNIPROT | Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. | 21549344 | 2011 |
||||
|
0.800 | GeneticVariation | UNIPROT | |||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
GC | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |