| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | "Common genetic etiology between ""multiple sclerosis-like"" single-gene disorders and familial multiple sclerosis." | 28337550 | 2017 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. | 27987238 | 2017 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication. | 26095671 | 2015 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes. | 24508722 | 2014 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | POLG1-related levodopa-responsive parkinsonism. | 25203713 | 2014 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations. | 22357363 | 2012 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Alpers syndrome with mutations in POLG: clinical and investigative features. | 22000311 | 2011 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism. | 21301859 | 2011 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Antimutator alleles of yeast DNA polymerase gamma modulate the balance between DNA synthesis and excision. | 22114710 | 2011 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. | 18487244 | 2008 |
|||
|
0.010 | GeneticVariation | BEFREE | Homozygous R627W mutations in POLG cause mitochondrial DNA depletion leading to encephalopathy, seizures and stroke-like episodes. | 31425757 | 2019 |