Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		T 0.700 CausalMutation CLINVAR Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. 23783014

2013
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		T 0.700 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
rs113994095
POLG ; MIR6766
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		T 0.700 CausalMutation CLINVAR Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. 18500570

2008
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		T 0.700 CausalMutation CLINVAR Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype. 21515089

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		T 0.700 CausalMutation CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338

2014
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		T 0.700 CausalMutation CLINVAR Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. 24272679

2014
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		T 0.700 CausalMutation 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
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		T 0.700 CausalMutation CLINVAR Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1). 21686371

2009
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		T 0.700 CausalMutation CLINVAR Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 11431686

2001
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		T 0.700 CausalMutation CLINVAR Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 27987238

2017
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		T 0.700 CausalMutation CLINVAR Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. 23448099

2013
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		T 0.700 CausalMutation CLINVAR POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711

2004
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		T 0.700 CausalMutation CLINVAR [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia]. 20576279

2010
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		T 0.700 CausalMutation CLINVAR POLG mutation presenting with late-onset jerky torticollis. 23212759

2013
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		T 0.700 CausalMutation CLINVAR Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347

2005
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		T 0.700 CausalMutation CLINVAR POLG1 variations presenting as multiple sclerosis. 20837861

2010