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 GeneticVariation disease CLINVAR Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 11431686 2001
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 11431686 2001
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. 12825077 2003
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). 12707443 2003
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 GeneticVariation disease CLINVAR POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. 14635118 2003
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. 14635118 2003
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711 2004
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. 15351195 2004
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 GeneticVariation disease CLINVAR POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 15477547 2004
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 GeneticVariation disease CLINVAR POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. 14745080 2004
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR POLG mutations in Alpers syndrome. 16177225 2005
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 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 		1.000 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 		1.000 CausalMutation disease CLINVAR Early-onset familial parkinsonism due to POLG mutations. 16634032 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 GeneticVariation disease CLINVAR Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. 17088268 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 GeneticVariation disease CLINVAR Molecular diagnosis of Alpers syndrome. 16545482 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 GeneticVariation disease CLINVAR Early-onset familial parkinsonism due to POLG mutations. 16634032 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR SANDO: two novel mutations in POLG1 gene. 16919951 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease CLINVAR SANDO: two novel mutations in POLG1 gene. 16919951 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. 17088268 2006