|
rs267606959
|
|
Steatohepatitis
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
|
20883824 |
2011 |
|
rs267606959
|
|
Steatohepatitis
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
|
20142534 |
2010 |
|
rs267606959
|
|
Status Epilepticus
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
|
20142534 |
2010 |
|
rs267606959
|
|
Status Epilepticus
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
|
20883824 |
2011 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.
|
23783014 |
2013 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.
|
24725338 |
2014 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.
|
25286830 |
2014 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.
|
18546343 |
2008 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.
|
24272679 |
2014 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.
|
22342071 |
2012 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?
|
22931735 |
2012 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.
|
19813183 |
2010 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.
|
29588995 |
2018 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.
|
21515089 |
2011 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
POLG1 variations presenting as multiple sclerosis.
|
20837861 |
2010 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
|
15917273 |
2005 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
|
22616202 |
2011 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.
|
19501198 |
2009 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
|
15824347 |
2005 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.
|
20691285 |
2011 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.
|
22189570 |
2012 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Bowel obstruction in patients with Alpers-Huttenlocher syndrome.
|
22006280 |
2011 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.
|
16024923 |
2005 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.
|
16368709 |
2006 |
|
rs113994095
|
|
Static Tremor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
|
26735972 |
2016 |