|
rs312262717
|
|
Bipolar Disorder
|
C |
0.700 |
CausalMutation
|
CLINVAR |
SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.
|
19194956 |
2009 |
|
rs1555454508
|
|
Bipolar Disorder
|
ATC |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs113994095
|
|
Bipolar Disorder
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.
|
22189570 |
2012 |
|
rs113994095
|
|
Bipolar Disorder
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.
|
18783964 |
2009 |
|
rs113994095
|
|
Bipolar Disorder
|
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
|
|
Bipolar Disorder
|
T |
0.700 |
CausalMutation
|
CLINVAR |
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
|
15122711 |
2004 |
|
rs113994095
|
|
Bipolar Disorder
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.
|
18546343 |
2008 |
|
rs113994095
|
|
Bipolar Disorder
|
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
|
|
Bipolar Disorder
|
T |
0.700 |
CausalMutation
|
CLINVAR |
[Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].
|
20576279 |
2010 |
|
rs113994095
|
|
Bipolar Disorder
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
|
21993618 |
2012 |
|
rs113994095
|
|
Bipolar Disorder
|
T |
0.700 |
CausalMutation
|
CLINVAR |
POLG1 variations presenting as multiple sclerosis.
|
20837861 |
2010 |
|
rs113994095
|
|
Bipolar Disorder
|
T |
0.700 |
CausalMutation
|
CLINVAR |
An informatics approach to analyzing the incidentalome.
|
22995991 |
2013 |
|
rs113994095
|
|
Bipolar Disorder
|
T |
0.700 |
CausalMutation
|
CLINVAR |
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.
|
20138553 |
2010 |
|
rs113994095
|
|
Bipolar Disorder
|
T |
0.700 |
CausalMutation
|
CLINVAR |
MELAS/SANDO overlap syndrome associated with POLG1 mutations.
|
21647632 |
2012 |
|
rs113994095
|
|
Bipolar Disorder
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.
|
19538466 |
2011 |
|
rs113994095
|
|
Bipolar Disorder
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.
|
24725338 |
2014 |
|
rs113994095
|
|
Bipolar Disorder
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.
|
19766516 |
2010 |
|
rs113994095
|
|
Bipolar Disorder
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.
|
21235791 |
2011 |
|
rs113994095
|
|
Bipolar Disorder
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
|
22616202 |
2011 |
|
rs113994095
|
|
Bipolar Disorder
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.
|
18500570 |
2008 |
|
rs113994095
|
|
Bipolar Disorder
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.
|
27987238 |
2017 |
|
rs113994095
|
|
Bipolar Disorder
|
T |
0.700 |
CausalMutation
|
CLINVAR |
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
|
20818383 |
2010 |
|
rs113994095
|
|
Bipolar Disorder
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.
|
23430834 |
2011 |
|
rs113994095
|
|
Bipolar Disorder
|
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
|
|
Bipolar Disorder
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
|
28771251 |
2018 |