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: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 GeneticVariation CLINVAR Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 11431686

2001
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 11431686

2001
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 12210792

2002
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). 12707443

2003
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. 12825077

2003
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. 12872260

2003
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 GeneticVariation CLINVAR POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. 14635118

2003
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. 14635118

2003
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 GeneticVariation CLINVAR POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. 14745080

2004
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711

2004
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR 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
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. 15351195

2004
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 GeneticVariation CLINVAR POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 15477547

2004
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation 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
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation 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
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR POLG mutations in Alpers syndrome. 16177225

2005
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia. 16368709

2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR 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
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 GeneticVariation CLINVAR Molecular diagnosis of Alpers syndrome. 16545482

2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Molecular diagnosis of Alpers syndrome. 16545482

2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 GeneticVariation CLINVAR Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 CausalMutation CLINVAR Early-onset familial parkinsonism due to POLG mutations. 16634032

2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 GeneticVariation CLINVAR Early-onset familial parkinsonism due to POLG mutations. 16634032

2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		1.000 GeneticVariation CLINVAR The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. 16638794

2006