DisGeNET - a database of gene-disease associations

Source: CURATED

Gene: POLG ×

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:

rs267606959

POLG

CUI:	C0233514
Disease:	Abnormal behavior

Abnormal behavior

0.700

CausalMutation

CLINVAR

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.

20883824

2011

dbSNP:

rs267606959

POLG

CUI:	C0233514
Disease:	Abnormal behavior

Abnormal behavior

0.700

CausalMutation

CLINVAR

A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.

20142534

2010

dbSNP:

rs267606959

POLG

CUI:	C4025751
Disease:	Abnormality of the pancreas

Abnormality of the pancreas

0.700

CausalMutation

CLINVAR

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.

20883824

2011

dbSNP:

rs267606959

POLG

CUI:	C4025751
Disease:	Abnormality of the pancreas

Abnormality of the pancreas

0.700

CausalMutation

CLINVAR

A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.

20142534

2010

dbSNP:

rs2307449

POLG

CUI:	C1629609
Disease:	Age at menopause

Age at menopause

0.800

GeneticVariation

GWASCAT

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.

22267201

2012

dbSNP:

rs2307449

POLG

CUI:	C1629609
Disease:	Age at menopause

Age at menopause

0.800

GeneticVariation

GWASDB

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.

22267201

2012

dbSNP:

rs1054875

POLG

CUI:	C1629609
Disease:	Age at menopause

Age at menopause

0.700

GeneticVariation

GWASCAT

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

26414677

2015

dbSNP:

rs113994095

POLG ; MIR6766

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.840

CausalMutation

CLINVAR

Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

15917273

2005

dbSNP:

rs113994095

POLG ; MIR6766

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.840

GeneticVariation

UNIPROT

Mitochondrial DNA depletion syndrome causing liver failure.

25129007

2014

dbSNP:

rs113994095

POLG ; MIR6766

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.840

CausalMutation

CLINVAR

Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

25286830

2014

dbSNP:

rs113994095

POLG ; MIR6766

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.840

GeneticVariation

UNIPROT

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.

16639411

2006

dbSNP:

rs113994095

POLG ; MIR6766

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.840

CausalMutation

CLINVAR

POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

20691285

2011

dbSNP:

rs113994095

POLG ; MIR6766

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.840

GeneticVariation

UNIPROT

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

16621917

2006

dbSNP:

rs113994095

POLG ; MIR6766

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.840

GeneticVariation

UNIPROT

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

15689359

2005

dbSNP:

rs113994095

POLG ; MIR6766

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.840

CausalMutation

CLINVAR

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

15122711

2004

dbSNP:

rs113994095

POLG ; MIR6766

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.840

CausalMutation

CLINVAR

The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

16024923

2005

dbSNP:

rs113994095

POLG ; MIR6766

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.840

CausalMutation

CLINVAR

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

26735972

2016

dbSNP:

rs113994095

POLG ; MIR6766

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.840

CausalMutation

CLINVAR

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

11431686

2001

dbSNP:

rs113994095

POLG ; MIR6766

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.840

GeneticVariation

UNIPROT

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

15122711

2004

dbSNP:

rs113994095

POLG ; MIR6766

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.840

GeneticVariation

UNIPROT

POLG mutations and Alpers syndrome.

15929042

2005

dbSNP:

rs113994095

POLG ; MIR6766

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.840

GeneticVariation

UNIPROT

Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

18828154

2009

dbSNP:

rs113994097

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.830

GeneticVariation

CLINVAR

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

16638794

2006

dbSNP:

rs113994097

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.830

GeneticVariation

CLINVAR

Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.

17088268

2006

dbSNP:

rs113994097

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.830

GeneticVariation

UNIPROT

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.

16639411

2006

dbSNP:

rs113994097

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.830

GeneticVariation

CLINVAR

Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

22931735

2012