Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.760 GeneticVariation UNIPROT PRICKLE2 Mutations Might Not Be Involved in Epilepsy. 26942291

2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.760 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.760 Biomarker GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951

2015
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.760 Biomarker GENOMICS_ENGLAND Rhabdomyolysis: a genetic perspective. 25929793

2015
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.760 Biomarker CTD_human Alpers syndrome with prominent white matter changes. 17923349

2008
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.760 GeneticVariation UNIPROT ANT1, TWINKLE and POLG genes affect mtDNA stability and are involved in autosomal dominant PEO, while mutations in POLG are responsible for numerous clinical presentations, including autosomal recessive PEO, sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO), spino-cerebellar ataxia and epilepsy (SCAE) or Alpers syndrome. 16639411

2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.760 GermlineCausalMutation ORPHANET SANDO: two novel mutations in POLG1 gene. 16919951

2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.760 GeneticVariation UNIPROT SANDO: two novel mutations in POLG1 gene. 16919951

2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.760 GeneticVariation UNIPROT Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.760 GermlineCausalMutation ORPHANET Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347

2005
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.760 GeneticVariation UNIPROT Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. 16080118

2005
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.760 GeneticVariation 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
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.760 GeneticVariation UNIPROT Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347

2005
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.760 GeneticVariation UNIPROT POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. 14745080

2004
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.760 GeneticVariation UNIPROT POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 15477547

2004
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.760 GermlineCausalMutation ORPHANET Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 12565911

2003
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.760 GeneticVariation UNIPROT Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 12565911

2003
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.510 GeneticVariation ORPHANET Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. 15668446

2005
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.510 Biomarker CTD_human