DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Alpers Syndrome (disorder) ×

Variant: rs113994094 ×

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:

rs113994094

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.800

GeneticVariation

UNIPROT

Mitochondrial DNA depletion syndrome causing liver failure.

25129007

2014

dbSNP:

rs113994094

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.800

CausalMutation

CLINVAR

The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders.

23665194

2013

dbSNP:

rs113994094

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.800

CausalMutation

CLINVAR

Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

23783014

2013

dbSNP:

rs113994094

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.800

CausalMutation

CLINVAR

Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.

22616202

2011

dbSNP:

rs113994094

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.800

CausalMutation

CLINVAR

Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.

20513108

2010

dbSNP:

rs113994094

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.800

GeneticVariation

UNIPROT

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

18828154

2009

dbSNP:

rs113994094

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.800

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:

rs113994094

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.800

GeneticVariation

UNIPROT

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

16621917

2006

dbSNP:

rs113994094

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.800

GeneticVariation

UNIPROT

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

15689359

2005

dbSNP:

rs113994094

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.800

GeneticVariation

UNIPROT

POLG mutations and Alpers syndrome.

15929042

2005

dbSNP:

rs113994094

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.800

GeneticVariation

UNIPROT

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

15122711

2004

dbSNP:

rs113994094

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.800

CausalMutation

CLINVAR

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

12210792

2002