| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae. | 20185557 | 2010 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | The unfolding clinical spectrum of POLG mutations. | 19578034 | 2009 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. | 18546365 | 2008 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. | 16957900 | 2007 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. | 16621917 | 2006 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. | 16401742 | 2006 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
TC | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
GCAAA | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR |