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 		1.000 CausalMutation disease CLINVAR De novo mtDNA point mutations are common and have a low recurrence risk. 27450679 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease 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 		1.000 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 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 		1.000 CausalMutation disease CLINVAR A national perspective on prenatal testing for mitochondrial disease. 24642831 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia. 25281868 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum. 22494076 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Dystonia in mitochondrial spinocerebellar ataxia and epilepsy syndrome associated with novel recessive POLG mutations. 21956653 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 22277967 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 GeneticVariation 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 		1.000 CausalMutation disease CLINVAR Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. 22189570 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Alpers syndrome with mutations in POLG: clinical and investigative features. 22000311 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 GeneticVariation disease CLINVAR Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations. 21550804 2011