POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Liver Failure, Acute ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. 28771251 2018
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. 19766516 2010
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR An informatics approach to analyzing the incidentalome. 22995991 2013
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Bowel obstruction in patients with Alpers-Huttenlocher syndrome. 22006280 2011
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 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
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. 20138553 2010
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease. 25286830 2014
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR MELAS/SANDO overlap syndrome associated with POLG1 mutations. 21647632 2012
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation. 19813183 2010
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 27987238 2017
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia]. 20576279 2010
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. 19501198 2009
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy. 22342071 2012
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. 21235791 2011
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711 2004
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338 2014
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO? 22931735 2012
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 GeneticVariation disease LHGDN Two missense variants, c.248T > C (p.L83P), c.2662G > A (p.G888S) in POLG1 were detected in a 10-year-old Chinese girl with refractory seizures, acute liver failure after exposure to valproic acid, cortical blindness, and psychomotor regression. 17923349 2008