Gene: POLG ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 26735972 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. 24272679 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR An informatics approach to analyzing the incidentalome. 22995991 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. 18546343 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347 2005
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Bowel obstruction in patients with Alpers-Huttenlocher syndrome. 22006280 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. 19766516 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease. 25286830 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. 19501198 2009
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO? 22931735 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 27987238 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. 15917273 2005
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease 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
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR MELAS/SANDO overlap syndrome associated with POLG1 mutations. 21647632 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia. 16368709 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease 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
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. 21993618 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. 21235791 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 11431686 2001
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. 18500570 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype. 21515089 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. 20138553 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome. 20691285 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR POLG mutation presenting with late-onset jerky torticollis. 23212759 2013