DisGeNET - a database of gene-disease associations

Liver Failure, Acute, C0162557

Variant: rs113994095 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

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

20691285

2011

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

27987238

2017

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

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

22931735

2012

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

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

22616202

2011

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

We characterise a novel splice site mutation in POLG found in trans with the p.A467T mutation in a 3.5 years old boy with valproic acid induced acute liver failure (Alpers-Huttenlocher syndrome).

21235791

2011

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.

23430834

2011

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

18546343

2008

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

19766516

2010

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

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

26735972

2016

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.

24725338

2014

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

[Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].

20576279

2010

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

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

11431686

2001

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

MELAS/SANDO overlap syndrome associated with POLG1 mutations.

21647632

2012

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.

21515089

2011

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.

19813183

2010

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

21993618

2012

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

22189570

2012

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

15824347

2005

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

23448099

2013

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.

29588995

2018

dbSNP:

rs113994095

POLG ; MIR6766

0.710

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

0.710

CausalMutation

CLINVAR

Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

18783964

2009

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.

16368709

2006

dbSNP:

rs113994095

POLG ; MIR6766

0.710

CausalMutation

CLINVAR

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

23783014

2013

dbSNP: