Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 12565911

2003

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR Bowel obstruction in patients with Alpers-Huttenlocher syndrome. 22006280

2011

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. 18546343

2008

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011

dbSNP: rs113994095
rs113994095
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

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. 21993618

2012

dbSNP: rs113994095
rs113994095
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

dbSNP: rs113994095
rs113994095
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

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR MELAS/SANDO overlap syndrome associated with POLG1 mutations. 21647632

2012

dbSNP: rs113994095
rs113994095
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

dbSNP: rs113994095
rs113994095
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

dbSNP: rs113994095
rs113994095
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

dbSNP: rs113994095
rs113994095
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

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711

2004

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. 21235791

2011

dbSNP: rs113994095
rs113994095
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

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR An informatics approach to analyzing the incidentalome. 22995991

2013

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. 23448099

2013

dbSNP: rs113994095
rs113994095
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

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 26735972

2016

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. 19501198

2009

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. 14635118

2003

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. 22189570

2012

dbSNP: rs113994095
rs113994095
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