POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: POLG mutation ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201477273
rs201477273
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3888962
Disease:
POLG mutation 		0.010 GeneticVariation BEFREE Whole-exome sequencing analysis identified the first homozygous POLG mutation (c.2890C > T; p.R964C) associated with ovarian dysfunction.Sanger sequencing was used to validate. 29992832 2018
dbSNP: rs113994095
rs113994095
Entrez Id: 5428;102466983
Gene Symbol: POLG;MIR6766
POLG;MIR6766
CUI: C3888962
Disease:
POLG mutation 		0.010 GeneticVariation BEFREE Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation. 19813183 2010
dbSNP: rs267606959
rs267606959
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3888962
Disease:
POLG mutation 		0.010 GeneticVariation BEFREE The heterozygous presence of the novel p.P1073L mutation in trans with another recessive POLG mutation causes a hepatocerebral disorder identical or very similar to Alpers syndrome. 20142534 2010
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3888962
Disease:
POLG mutation 		0.010 GeneticVariation BEFREE Do carriers of POLG mutation W748S have disease manifestations? 17894835 2007
dbSNP: rs113994099
rs113994099
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3888962
Disease:
POLG mutation 		0.010 GeneticVariation BEFREE Collectively, these results offer a biochemical link between the observed oxidative stress in model systems and parkinsonism in patients, suggesting that patients harboring the Y955C POLG mutation may undergo enhanced oxidative stress and DNA mutagenesis. 17725985 2007