Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
G | 0.700 | CausalMutation | CLINVAR | Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. | 25356970 | 2015 |
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G | 0.700 | CausalMutation | CLINVAR | Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. | 24725338 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. | 21880868 | 2011 |
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G | 0.700 | CausalMutation | CLINVAR | POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts. | 21138766 | 2011 |
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|
G | 0.700 | CausalMutation | CLINVAR | Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. | 20513108 | 2010 |
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|
G | 0.700 | CausalMutation | CLINVAR | Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. | 18585914 | 2008 |
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|
G | 0.700 | CausalMutation | CLINVAR | POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease. | 18195151 | 2008 |
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|
G | 0.700 | CausalMutation | CLINVAR | Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. | 16621917 | 2006 |
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|
G | 0.700 | CausalMutation | CLINVAR | Early-onset familial parkinsonism due to POLG mutations. | 16634032 | 2006 |