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 POLG1 manifestations in childhood. 21357833 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Clinical reasoning: a 10-month-old boy with myoclonic status epilepticus. 21282586 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Gender variability in presentation with Alpers' syndrome: a report of eight patients from the UAE. 21305355 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 GeneticVariation disease CLINVAR Partial status epilepticus - rapid genetic diagnosis of Alpers' disease. 21704543 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 GeneticVariation disease CLINVAR Alpers syndrome with mutations in POLG: clinical and investigative features. 22000311 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. 22616202 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. 20883824 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Novel POLG splice site mutation and optic atrophy. 21670405 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 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 		1.000 GeneticVariation disease CLINVAR POLG1 manifestations in childhood. 21357833 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 GeneticVariation disease CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Antimutator alleles of yeast DNA polymerase gamma modulate the balance between DNA synthesis and excision. 22114710 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations. 21550804 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Bowel obstruction in patients with Alpers-Huttenlocher syndrome. 22006280 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. 20843780 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism. 21301859 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 GeneticVariation disease CLINVAR Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G. 20153822 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. 20513108 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations. 20837862 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 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 		1.000 GeneticVariation disease CLINVAR Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations. 20176107 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae. 20185557 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR The heterozygous presence of the novel p.P1073L mutation in trans with another recessive POLG mutation causes a hepatocerebral disorder identical or very similar to Alpers syndrome. 20142534 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 GeneticVariation disease CLINVAR mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae. 20185557 2010