Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR De novo mtDNA point mutations are common and have a low recurrence risk. 27450679

2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option? 29302508

2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 26735972

2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Alpers disease mutations in human DNA polymerase gamma cause catalytic defects in mitochondrial DNA replication by distinct mechanisms. 25914719

2015
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication. 26095671

2015
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort. 23921535

2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes. 24508722

2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation 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
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR A national perspective on prenatal testing for mitochondrial disease. 24642831

2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338

2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia. 25281868

2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. 23665194

2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 GeneticVariation CLINVAR Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. 23448099

2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. 23783014

2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Surgical management of the burn wound and use of skin substitutes: an expert panel white paper. 23446645

2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected]. 23446635

2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations. 22357363

2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum. 22494076

2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 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
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Dystonia in mitochondrial spinocerebellar ataxia and epilepsy syndrome associated with novel recessive POLG mutations. 21956653

2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 22277967

2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 GeneticVariation 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
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. 22189570

2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Alpers syndrome with mutations in POLG: clinical and investigative features. 22000311

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 GeneticVariation CLINVAR Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations. 21550804

2011