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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation CLINVAR Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. 22616202

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation 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
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. 21993618

2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation 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
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation CLINVAR Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. 22189570

2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation 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
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation CLINVAR Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation. 18783964

2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation CLINVAR Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype. 21515089

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation CLINVAR Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 27987238

2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation 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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation CLINVAR POLG1 variations presenting as multiple sclerosis. 20837861

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation CLINVAR Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1). 21686371

2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338

2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation CLINVAR Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347

2005