POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Seizures ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations. 29474836 2019
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072 2017
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR The spectrum of epilepsy caused by POLG mutations. 26104464 2016
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation. 26755490 2016
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. 18294203 2008
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. 17426723 2007