Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.600 Biomarker disease GENOMICS_ENGLAND Rhabdomyolysis: a genetic perspective. 25929793 2015
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.600 CausalMutation 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 		0.600 CausalMutation disease CLINVAR POLG mutation presenting with late-onset jerky torticollis. 23212759 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.600 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 		0.600 CausalMutation disease CLINVAR Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. 22189570 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.600 CausalMutation disease CLINVAR MELAS/SANDO overlap syndrome associated with POLG1 mutations. 21647632 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.600 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 		0.600 CausalMutation disease CLINVAR Bowel obstruction in patients with Alpers-Huttenlocher syndrome. 22006280 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.600 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 		0.600 CausalMutation disease CLINVAR POLG1 variations presenting as multiple sclerosis. 20837861 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.600 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 		0.600 CausalMutation disease CLINVAR [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia]. 20576279 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.600 GeneticVariation disease UNIPROT Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. 16639411 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.600 GeneticVariation disease UNIPROT Early-onset familial parkinsonism due to POLG mutations. 16634032 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.600 GeneticVariation disease UNIPROT Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.600 GeneticVariation disease UNIPROT Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. 16401742 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.600 GeneticVariation disease UNIPROT 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 		0.600 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 		0.600 CausalMutation disease CLINVAR Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347 2005
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.600 CausalMutation disease CLINVAR Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. 15689359 2005
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.600 CausalMutation disease CLINVAR The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. 16024923 2005
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.600 CausalMutation disease CLINVAR POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 15477547 2004
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.600 GeneticVariation disease UNIPROT Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene. 15349879 2004
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.600 GeneticVariation disease UNIPROT Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. 15351195 2004