| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. | 23084291 | 2012 |
||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | Molecular diagnostic experience of whole-exome sequencing in adult patients. | 26633545 | 2016 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. | 27759031 | 2016 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. | 27759031 | 2016 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Molecular diagnostic experience of whole-exome sequencing in adult patients. | 26633545 | 2016 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. | 23084291 | 2012 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. | 23084291 | 2012 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR |