POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Parkinsonian Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994099
rs113994099
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0242422
Disease:
Parkinsonian Disorders 		0.020 GeneticVariation BEFREE The clinical features of parkinsonism related to the Y955C mutation in a total of 16 patients, including our two cases, are indistinguishable from iPD. 23673011 2013
dbSNP: rs113994099
rs113994099
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0242422
Disease:
Parkinsonian Disorders 		0.020 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
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0242422
Disease:
Parkinsonian Disorders 		0.010 GeneticVariation BEFREE Parkinsonism is one of the phenotypic features associated also with the W748S mutation. 18321754 2008
dbSNP: rs41549716
rs41549716
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0242422
Disease:
Parkinsonian Disorders 		0.010 GeneticVariation BEFREE These included a previously parkinsonism-associated POLG variant Y831C, found in one patient with PD, but also in five controls, suggesting that it is a neutral amino acid polymorphism. 17846414 2007