DisGeNET - a database of gene-disease associations

POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173

Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs113994099

Entrez Id:	5428
Gene Symbol:	POLG

POLG

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

18575922

2008

dbSNP:

rs121918051

Entrez Id:	5428
Gene Symbol:	POLG

POLG

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

18575922

2008

dbSNP:

rs121918055

Entrez Id:	5428;102466983
Gene Symbol:	POLG;MIR6766

POLG;MIR6766

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

18575922

2008

dbSNP:

rs113994099

Entrez Id:	5428
Gene Symbol:	POLG

POLG

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease.

17846414

2007

dbSNP:

rs113994099

Entrez Id:	5428
Gene Symbol:	POLG

POLG

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.

17420318

2007

dbSNP:

rs121918051

Entrez Id:	5428
Gene Symbol:	POLG

POLG

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.

17420318

2007

dbSNP:

rs121918051

Entrez Id:	5428
Gene Symbol:	POLG

POLG

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease.

17846414

2007

dbSNP:

rs121918055

Entrez Id:	5428;102466983
Gene Symbol:	POLG;MIR6766

POLG;MIR6766

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.

17420318

2007

dbSNP:

rs121918055

Entrez Id:	5428;102466983
Gene Symbol:	POLG;MIR6766

POLG;MIR6766

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease.

17846414

2007

dbSNP:

rs113994099

Entrez Id:	5428
Gene Symbol:	POLG

POLG

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

15351195

2004

dbSNP:

rs113994099

Entrez Id:	5428
Gene Symbol:	POLG

POLG

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.

15534189

2004

dbSNP:

rs121918051

Entrez Id:	5428
Gene Symbol:	POLG

POLG

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

15351195

2004

dbSNP:

rs121918051

Entrez Id:	5428
Gene Symbol:	POLG

POLG

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.

15534189

2004

dbSNP:

rs121918055

Entrez Id:	5428;102466983
Gene Symbol:	POLG;MIR6766

POLG;MIR6766

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

15351195

2004

dbSNP:

rs121918055

Entrez Id:	5428;102466983
Gene Symbol:	POLG;MIR6766

POLG;MIR6766

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.

15534189

2004

dbSNP:

rs113994099

Entrez Id:	5428
Gene Symbol:	POLG

POLG

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis.

11897778

2002

dbSNP:

rs113994099

Entrez Id:	5428
Gene Symbol:	POLG

POLG

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

12210792

2002

dbSNP:

rs121918051

Entrez Id:	5428
Gene Symbol:	POLG

POLG

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

12210792

2002

dbSNP:

rs121918051

Entrez Id:	5428
Gene Symbol:	POLG

POLG

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis.

11897778

2002

dbSNP:

rs121918055

Entrez Id:	5428;102466983
Gene Symbol:	POLG;MIR6766

POLG;MIR6766

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

12210792

2002

dbSNP:

rs121918055

Entrez Id:	5428;102466983
Gene Symbol:	POLG;MIR6766

POLG;MIR6766

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

GeneticVariation

UNIPROT

Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis.

11897778

2002

dbSNP:

rs113994099

Entrez Id:	5428
Gene Symbol:	POLG

POLG

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs121918051

Entrez Id:	5428
Gene Symbol:	POLG

POLG

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs121918055

Entrez Id:	5428;102466983
Gene Symbol:	POLG;MIR6766

POLG;MIR6766

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs1555453538

Entrez Id:	5428;102466983
Gene Symbol:	POLG;MIR6766

POLG;MIR6766

CUI:	C1834846
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.700

GeneticVariation

CLINVAR

Understanding the Epilepsy in POLG Related Disease.

28837072

2017